OMNIWELL · THE GENOMICS REFERENCE

Genes, Conditions
& Medication Response.

Your genome contains more information than any one report can explain. Explore the genes, conditions, medications, and traits in our planned reporting scope, with the clinical context that helps make sense of them.

Whole-Genome SequencingReference Edition · October 2026Physician-Led Interpretation

How to use this reference. These entries describe the current planned reporting scope, not separate tests or a promise that every associated variant is detectable. The assay and report version confirmed before ordering determine coverage. The gene list, medication associations, and statistical models each answer different questions; their clinical usefulness is not interchangeable.

01 / HEREDITARY HEALTH RISKS

A Gene Is a Starting Point.
The Variant and Context Matter.

A hereditary finding concerns a particular DNA variant, its relationship to a condition, and the way that condition can be inherited. The same gene can be linked to several conditions. A gene name alone cannot establish a diagnosis or predict when a condition will develop.

Autosomal Dominant: One disease-associated copy can be enough to cause a condition or increase risk. The likelihood and severity of features vary.
Autosomal Recessive: A condition generally involves disease-associated variants in both copies of a gene. One variant may indicate carrier status.
X-Linked: The gene is on the X chromosome. Effects depend on the condition, variant, and chromosome context; some carriers can have symptoms.

Carrier findings can be relevant to relatives or family planning even when a person is healthy. Some carriers can have health effects. A negative screening result does not eliminate reproductive risk or replace a dedicated carrier assessment when one is indicated.

Reading the result: Pathogenic and likely pathogenic describe evidence for a variant’s disease-causing role in a specific context. A variant of uncertain significance (VUS) has insufficient or conflicting evidence and should not independently drive a medical decision. The planned healthy-screening report excludes VUS. These classifications do not apply in the same way to every wellness association or polygenic-model variant.

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Hereditary Genes & Associated Conditions2,056 entries
Gene	Category	Associated Condition(s)	Inheritance
AAAS	Syndromic Disorder	Achalasia-addisonianism-alacrimia syndrome	Autosomal recessive
AARS2	Metabolic Disorder	Combined oxidative phosphorylation deficiency 8	Autosomal recessive
AASS	Metabolic Disorder	Hyperlysinemia	Autosomal recessive
ABCA1	Metabolic Disorder	Tangier disease	Autosomal recessive
ABCA12	Skin Disorder	Ichthyosis, congenital, autosomal recessive 4A; Ichthyosis, congenital, autosomal recessive 4B (harlequin)	Autosomal recessive
ABCA3	Respiratory Disorder	Surfactant metabolism dysfunction, pulmonary, 3	Autosomal recessive
ABCA4	Vision Disorder	Cone-rod dystrophy 3; Stargardt disease 1	Autosomal recessive
ABCA7	Neurodegenerative Disorder	Alzheimer disease 9, susceptibility to	Autosomal dominant
ABCB11	Liver Disorder	Cholestasis, progressive familial intrahepatic 2	Autosomal recessive
ABCB4	Liver Disorder	Cholestasis, progressive familial intrahepatic 3	Autosomal recessive
ABCC2	Liver Disorder	Dubin-Johnson syndrome	Autosomal recessive
ABCC6	Syndromic Disorder	Arterial calcification, generalized, of infancy, 2; Pseudoxanthoma elasticum	Autosomal recessive
ABCC8	Endocrine Disorder	Diabetes mellitus, permanent neonatal	Autosomal dominant
ABCC8	Endocrine Disorder	Hyperinsulinemic hypoglycemia, familial, 1	Autosomal dominant
ABCC8	Endocrine Disorder	Hyperinsulinemic hypoglycemia, familial, 1	Autosomal recessive
ABCC9	Cardiovascular Disorder	Atrial fibrillation, familial, 12; Hypertrichotic osteochondrodysplasia	Autosomal dominant
ABCD1	Neurodegenerative Disorder	Adrenoleukodystrophy; Adrenomyeloneuropathy, adult	X-linked recessive
ABCG5	Metabolic Disorder	Sitosterolemia	Autosomal recessive
ABCG8	Metabolic Disorder	Sitosterolemia	Autosomal recessive
ABHD12	Syndromic Disorder	Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract	Autosomal recessive
ABHD5	Metabolic Disorder	Chanarin-Dorfman syndrome	Autosomal recessive
ABL1	Cardiovascular Disorder	Congenital heart defects and skeletal malformations syndrome	Autosomal dominant
ACAD8	Metabolic Disorder	Isobutyryl-CoA dehydrogenase deficiency	Autosomal recessive
ACAD9	Metabolic Disorder	Mitochondrial complex I deficiency due to ACAD9 deficiency	Autosomal recessive
ACADM	Metabolic Disorder	Acyl-CoA dehydrogenase, medium chain, deficiency of	Autosomal recessive
ACADS	Metabolic Disorder	Acyl-CoA dehydrogenase, short-chain, deficiency of	Autosomal recessive
ACADSB	Metabolic Disorder	2-methylbutyrylglycinuria	Autosomal recessive
ACADVL	Metabolic Disorder	VLCAD deficiency	Autosomal recessive
ACAN	Musculoskeletal Disorder	Familial osteochondritis dissecans	Autosomal dominant
ACAT1	Metabolic Disorder	Alpha-methylacetoacetic aciduria	Autosomal recessive
ACE	Kidney Disorder	Renal tubular dysgenesis	Autosomal recessive
ACO2	Neurodegenerative Disorder	Infantile cerebellar-retinal degeneration	Autosomal recessive
ACOX1	Metabolic Disorder	Peroxisomal acyl-CoA oxidase deficiency	Autosomal recessive
ACP5	Syndromic Disorder	Spondyloenchondrodysplasia with immune dysregulation	Autosomal recessive
ACSF3	Metabolic Disorder	Combined malonic and methylmalonic aciduria	Autosomal recessive
ACTA1	Musculoskeletal Disorder	Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Nemaline myopathy 3, autosomal dominant or recessive	Autosomal recessive
ACTA2	Cardiovascular Disorder	Aortic aneurysm, familial thoracic 6	Autosomal dominant
ACTB	Syndromic Disorder	Baraitser-Winter syndrome 1	Autosomal dominant
ACTC1	Cardiovascular Disorder	Cardiomyopathy, dilated, 1R; Cardiomyopathy, hypertrophic, 11	Autosomal dominant
ACTG1	Hearing Disorder	Deafness, autosomal dominant 20/26	Autosomal dominant
ACTG2	Gastrointestinal Disorder	Visceral myopathy	Autosomal dominant
ACTN2	Cardiovascular Disorder	Cardiomyopathy, dilated, 1AA, with or without LVNC; Cardiomyopathy, hypertrophic, 23, with or without LVNC	Autosomal dominant
ACVR1	Musculoskeletal Disorder	Fibrodysplasia ossificans progressiva	Autosomal dominant
ACVRL1	Neurologic Disorder	Telangiectasia, hereditary hemorrhagic, type 2	Autosomal dominant
ACY1	Metabolic Disorder	Aminoacylase 1 deficiency	Autosomal recessive
ADA	Immunological Disorder	Adenosine deaminase deficiency, partial; Severe combined immunodeficiency due to ADA deficiency	Autosomal recessive
ADAM9	Vision Disorder	Cone-rod dystrophy 9	Autosomal recessive
ADAMTS10	Syndromic Disorder	Weill-Marchesani syndrome 1, recessive	Autosomal recessive
ADAMTS13	Hematologic Disorder	Thrombotic thrombocytopenic purpura, familial	Autosomal recessive
ADAMTS17	Syndromic Disorder	Weill-Marchesani syndrome	Autosomal recessive
ADAMTS18	Syndromic Disorder	Microcornea, myopic chorioretinal atrophy, and telecanthus	Autosomal recessive
ADAMTS2	Syndromic Disorder	Ehlers-Danlos syndrome, type VIIC	Autosomal recessive
ADAMTSL4	Vision Disorder	Ectopia lentis et pupillae; Ectopia lentis, isolated, autosomal recessive	Autosomal recessive
ADAR	Neurologic Disorder	Aicardi-Goutieres syndrome 6	Autosomal recessive
ADCY5	Neurologic Disorder	Dyskinesia, familial, with facial myokymia	Autosomal dominant
ADGRG1	Neurologic Disorder	Polymicrogyria, bilateral frontoparietal	Autosomal recessive
ADGRV1	Syndromic Disorder	Usher syndrome, type 2C	Autosomal recessive
ADNP	Neurologic Disorder	Helsmoortel-van der Aa syndrome	Autosomal dominant
ADSL	Neurologic Disorder	Adenylosuccinase deficiency	Autosomal recessive
AFF4	Syndromic Disorder	CHOPS syndrome	Autosomal dominant
AFG3L2	Neurologic Disorder	Spinocerebellar ataxia 28	Autosomal dominant
AFP	Metabolic Disorder	Alpha-fetoprotein deficiency	Autosomal recessive
AGA	Metabolic Disorder	Aspartylglucosaminuria	Autosomal recessive
AGBL5	Vision Disorder	Retinitis pigmentosa 75	Autosomal recessive
AGK	Metabolic Disorder	Sengers syndrome	Autosomal recessive
AGL	Metabolic Disorder	Glycogen storage disease type III	Autosomal recessive
AGPAT2	Syndromic Disorder	Lipodystrophy, congenital generalized, type 1	Autosomal recessive
AGPS	Syndromic Disorder	Rhizomelic chondrodysplasia punctata, type 3	Autosomal recessive
AGRN	Musculoskeletal Disorder	Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects	Autosomal recessive
AGT	Kidney Disorder	Renal tubular dysgenesis	Autosomal recessive
AGTR1	Kidney Disorder	Renal tubular dysgenesis	Autosomal recessive
AGXT	Kidney Disorder	Hyperoxaluria, primary, type 1	Autosomal recessive
AHCY	Neurologic Disorder	Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase	Autosomal recessive
AHDC1	Neurologic Disorder	Xia-Gibbs syndrome	Autosomal dominant
AHI1	Syndromic Disorder	Joubert syndrome-3	Autosomal recessive
AICDA	Immunological Disorder	Immunodeficiency with hyper-IgM, type 2	Autosomal dominant
AICDA	Immunological Disorder	Immunodeficiency with hyper-IgM, type 2	Autosomal recessive
AIFM1	Syndromic Disorder	Combined oxidative phosphorylation deficiency 6; Cowchock syndrome	X-linked recessive
AIP	Endocrine Disorder	Pituitary adenoma, growth hormone-secreting	Autosomal dominant
AIPL1	Vision Disorder	Leber congenital amaurosis 4	Autosomal recessive
AIRE	Immunological Disorder	Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia	Autosomal recessive
AK1	Hematologic Disorder	Hemolytic anemia due to adenylate kinase deficiency	Autosomal recessive
AK2	Syndromic Disorder	Reticular dysgenesis	Autosomal recessive
AKAP9	Cardiovascular Disorder	Long QT syndrome-11	Autosomal dominant
AKT3	Syndromic Disorder	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Autosomal dominant
ALAD	Metabolic Disorder	Porphyria, acute hepatic	Autosomal recessive
ALAS2	Hematologic Disorder	Erythropoietic protoporphyria	X-linked dominant
ALAS2	Hematologic Disorder	Sideroblastic anemia	X-linked recessive
ALB	Metabolic Disorder	Analbuminemia	Autosomal recessive
ALDH18A1	Syndromic Disorder	Cutis laxa, autosomal dominant 3	Autosomal dominant
ALDH3A2	Neurologic Disorder	Sjogren-Larsson syndrome	Autosomal recessive
ALDH4A1	Neurologic Disorder	Hyperprolinemia, type II	Autosomal recessive
ALDH5A1	Neurologic Disorder	Succinic semialdehyde dehydrogenase deficiency	Autosomal recessive
ALDH6A1	Metabolic Disorder	Methylmalonate semialdehyde dehydrogenase deficiency	Autosomal recessive
ALDH7A1	Neurologic Disorder	Epilepsy, pyridoxine-dependent	Autosomal recessive
ALDOB	Metabolic Disorder	Fructose intolerance	Autosomal recessive
ALG1	Metabolic Disorder	Congenital disorder of glycosylation, type Ik	Autosomal recessive
ALG11	Metabolic Disorder	Congenital disorder of glycosylation, type Ip	Autosomal recessive
ALG12	Metabolic Disorder	Congenital disorder of glycosylation, type Ig	Autosomal recessive
ALG13	Neurologic Disorder	Epileptic encephalopathy, early infantile, 36	X-linked dominant
ALG2	Neurologic Disorder	Myasthenic syndrome, congenital, 14, with tubular aggregates	Autosomal recessive
ALG3	Metabolic Disorder	Congenital disorder of glycosylation, type Id	Autosomal recessive
ALG6	Metabolic Disorder	Congenital disorder of glycosylation, type Ic	Autosomal recessive
ALG8	Syndromic Disorder	Congenital disorder of glycosylation, type Ih	Autosomal recessive
ALG9	Syndromic Disorder	Congenital disorder of glycosylation, type Il; Gillessen- Kaesbach-Nishimura syndrome	Autosomal recessive
ALK	Hereditary Cancer	Neuroblastoma, susceptibility to, 3	Autosomal dominant
ALMS1	Syndromic Disorder	Alstrom syndrome	Autosomal recessive
ALOX12B	Skin Disorder	Congenital ichthyosis of skin	Autosomal recessive
ALOXE3	Skin Disorder	Congenital ichthyosis of skin	Autosomal recessive
ALPL	Musculoskeletal Disorder	Hypophosphatasia	Autosomal recessive
ALS2	Neurodegenerative Disorder	Amyotrophic lateral sclerosis 2, juvenile; Primary lateral sclerosis, juvenile	Autosomal recessive
ALX4	Syndromic Disorder	Parietal foramina 2	Autosomal dominant
AMACR	Metabolic Disorder	Bile acid synthesis defect, congenital, 4	Autosomal recessive
AMELX	Dental Disorder	Amelogenesis imperfecta, type 1E	X-linked dominant
AMER1	Musculoskeletal Disorder	Osteopathia striata with cranial sclerosis	X-linked dominant
AMH	Syndromic Disorder	Persistent Mullerian duct syndrome, type I	Autosomal recessive
AMHR2	Syndromic Disorder	Persistent Mullerian duct syndrome, type II	Autosomal recessive
AMPD2	Neurodegenerative Disorder	Pontocerebellar hypoplasia, type 9	Autosomal recessive
AMT	Neurologic Disorder	Glycine encephalopathy	Autosomal recessive
ANGPTL3	Cardiovascular Disorder	Hypobetalipoproteinemia, familial, 2	Autosomal recessive
ANK1	Hematologic Disorder	Spherocytosis, type 1	Autosomal dominant
ANK2	Cardiovascular Disorder	Cardiac arrhythmia, ankyrin-B-related	Autosomal dominant
ANKRD11	Syndromic Disorder	KBG syndrome	Autosomal dominant
ANKRD26	Hematologic Disorder	Thrombocytopenia 2	Autosomal dominant
ANKS6	Kidney Disorder	Nephronophthisis 16	Autosomal recessive
ANLN	Kidney Disorder	Focal segmental glomerulosclerosis 8	Autosomal dominant
ANO10	Neurodegenerative Disorder	Spinocerebellar ataxia type 10	Autosomal recessive
ANO5	Musculoskeletal Disorder	Gnathodiaphyseal dysplasia	Autosomal dominant
ANO5	Musculoskeletal Disorder	Miyoshi muscular dystrophy 3; Muscular dystrophy, limb- girdle, type 2L	Autosomal recessive
ANOS1	Endocrine Disorder	Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)	X-linked recessive
ANTXR1	Syndromic Disorder	GAPO syndrome	Autosomal recessive
ANTXR2	Musculoskeletal Disorder	Hyaline fibromatosis syndrome	Autosomal recessive
AP1S2	Neurologic Disorder	Intellectual functioning disability	X-linked recessive
AP2S1	Metabolic Disorder	Hypocalciuric hypercalcemia, type III	Autosomal dominant
AP3B1	Syndromic Disorder	Hermansky-Pudlak syndrome 2	Autosomal recessive
AP4B1	Neurodegenerative Disorder	Spastic paraplegia 47, autosomal recessive	Autosomal recessive
AP4E1	Neurologic Disorder	Spastic paraplegia 51, autosomal recessive	Autosomal recessive
AP4M1	Neurodegenerative Disorder	Spastic paraplegia 50, autosomal recessive	Autosomal recessive
AP4S1	Neurologic Disorder	Spastic paraplegia	Autosomal recessive
AP5Z1	Neurologic Disorder	Spastic paraplegia	Autosomal recessive
APC	Hereditary Cancer	Adenomatous polyposis coli	Autosomal dominant
APOA1	Syndromic Disorder	Amyloidosis	Autosomal dominant
APOA5	Metabolic Disorder	Hypertriglyceridemia, susceptibility to	Autosomal dominant
APOB	Metabolic Disorder	Familial hypobetalipoproteinemia	Autosomal dominant
APOB	Metabolic Disorder	Familial hypobetalipoproteinemia	Autosomal recessive
APOB	Metabolic Disorder	Familial hypobetalipoproteinemia; Hypercholesterolemia, due to ligand-defective apo B	Autosomal dominant
APOB	Metabolic Disorder	Hypercholesterolemia, due to ligand-defective apo B	Autosomal dominant
APOC2	Metabolic Disorder	Hyperlipoproteinemia, type Ib	Autosomal recessive
APOE	Neurodegenerative Disorder	Alzheimer's disease	Autosomal dominant
APP	Neurodegenerative Disorder	Alzheimer disease 1, familial	Autosomal dominant
APRT	Metabolic Disorder	Adenine phosphoribosyltransferase deficiency	Autosomal recessive
APTX	Neurologic Disorder	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	Autosomal recessive
AQP2	Kidney Disorder	Diabetes insipidus, nephrogenic	Autosomal dominant
AR	Endocrine Disorder	Androgen insensitivity; Androgen insensitivity, partial, with or without breast cancer	X-linked recessive
ARFGEF2	Neurologic Disorder	Periventricular heterotopia with microcephaly	Autosomal recessive
ARG1	Metabolic Disorder	Argininemia	Autosomal recessive
ARID1B	Syndromic Disorder	Coffin-Siris syndrome 1	Autosomal dominant
ARL13B	Neurologic Disorder	Joubert syndrome 8	Autosomal recessive
ARL2BP	Vision Disorder	Retinitis pigmentosa with or without situs inversus	Autosomal recessive
ARL6	Syndromic Disorder	Bardet-Biedl syndrome 3	Autosomal recessive
ARSA	Neurologic Disorder	Metachromatic leukodystrophy	Autosomal recessive
ARSB	Syndromic Disorder	Mucopolysaccharidosis type VI (Maroteaux-Lamy)	Autosomal recessive
ARSL	Musculoskeletal Disorder	Chondrodysplasia punctata	Autosomal recessive
ARX	Syndromic Disorder	Intellectual developmental disorder, X-linked 29; Lissencephaly, X-linked 2	X-linked
ASAH1	Metabolic Disorder	Farber lipogranulomatosis	Autosomal recessive
ASL	Metabolic Disorder	Argininosuccinic aciduria	Autosomal recessive
ASNS	Metabolic Disorder	Asparagine synthetase deficiency	Autosomal recessive
ASPA	Metabolic Disorder	Canavan disease	Autosomal recessive
ASPM	Neurologic Disorder	Microcephaly 5, primary, autosomal recessive	Autosomal recessive
ASS1	Metabolic Disorder	Citrullinemia	Autosomal recessive
ASXL3	Syndromic Disorder	Bainbridge-Ropers syndrome	Autosomal dominant
ATF6	Vision Disorder	Achromatopsia 7	Autosomal recessive
ATL1	Neurologic Disorder	Neuropathy, hereditary sensory, type ID; Spastic paraplegia	Autosomal dominant
ATM	Hereditary Cancer	Susceptibility to breast cancer; Ataxia-telangiectasia	Autosomal dominant; Autosomal recessive
ATOH7	Vision Disorder	Persistent hyperplastic primary vitreous, autosomal recessive	Autosomal recessive
ATP13A2	Neurodegenerative Disorder	Kufor-Rakeb syndrome	Autosomal recessive
ATP1A3	Neurologic Disorder	Alternating hemiplegia of childhood 2; CAPOS syndrome	Autosomal dominant
ATP2A1	Musculoskeletal Disorder	Brody myopathy	Autosomal recessive
ATP2A2	Skin Disorder	Acrokeratosis verruciformis; Darier disease	Autosomal dominant
ATP2C1	Skin Disorder	Hailey-Hailey disease	Autosomal dominant
ATP6V0A2	Skin Disorder	Cutis laxa, autosomal recessive, type IIA	Autosomal recessive
ATP6V0A4	Syndromic Disorder	Renal tubular acidosis, distal, autosomal recessive	Autosomal recessive
ATP6V1B1	Syndromic Disorder	Renal tubular acidosis with deafness	Autosomal recessive
ATP7A	Metabolic Disorder	Menkes disease	X-linked recessive
ATP7B	Metabolic Disorder	Wilson disease	Autosomal recessive
ATP8B1	Liver Disorder	Cholestasis, benign recurrent intrahepatic; Cholestasis, progressive familial intrahepatic 1	Autosomal recessive
ATR	Syndromic Disorder	Seckel syndrome 1	Autosomal recessive
ATRX	Syndromic Disorder	Alpha-thalassemia/intellectual deficit syndrome	X-linked dominant
AUH	Neurologic Disorder	3-methylglutaconic aciduria, type I	Autosomal recessive
AURKC	Syndromic Disorder	Spermatogenic failure 5	Autosomal recessive
AUTS2	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
AVPR2	Kidney Disorder	Diabetes insipidus, nephrogenic	X-linked recessive
AXIN2	Hereditary Cancer	Oligodontia-colorectal cancer syndrome	Autosomal dominant
B3GALNT2	Musculoskeletal Disorder	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11	Autosomal recessive
B3GALT6	Syndromic Disorder	Ehlers-Danlos syndrome, progeroid type, 2; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	Autosomal recessive
B3GLCT	Syndromic Disorder	Peters-plus syndrome	Autosomal recessive
B4GALNT1	Neurologic Disorder	Spastic paraplegia	Autosomal recessive
B4GALT7	Musculoskeletal Disorder	Ehlers-Danlos syndrome with short stature and limb anomalies	Autosomal recessive
B9D1	Syndromic Disorder	Joubert syndrome 27	Autosomal recessive
BAAT	Metabolic Disorder	Hypercholanemia, familial	Autosomal recessive
BAG3	Cardiovascular Disorder	Cardiomyopathy, dilated, 1HH; Myopathy, myofibrillar, 6	Autosomal dominant
BAP1	Hereditary Cancer	Tumor predisposition syndrome	Autosomal dominant
BARD1	Hereditary Cancer	Hereditary breast and ovarian cancer syndrome	Autosomal dominant
BBS1	Syndromic Disorder	Bardet-Biedl syndrome 1	Autosomal recessive
BBS10	Syndromic Disorder	Bardet-Biedl syndrome 10	Autosomal recessive
BBS12	Syndromic Disorder	Bardet-Biedl syndrome 12	Autosomal recessive
BBS2	Syndromic Disorder	Bardet-Biedl syndrome 2	Autosomal recessive
BBS4	Syndromic Disorder	Bardet-Biedl syndrome 4	Autosomal recessive
BBS5	Syndromic Disorder	Bardet-Biedl syndrome 5	Autosomal recessive
BBS7	Syndromic Disorder	Bardet-Biedl syndrome 7	Autosomal recessive
BBS9	Syndromic Disorder	Bardet-Biedl syndrome 9	Autosomal recessive
BCAP31	Syndromic Disorder	Deafness, dystonia, and cerebral hypomyelination	X-linked recessive
BCHE	Metabolic Disorder	Apnea, postanesthetic	Autosomal recessive
BCKDHA	Metabolic Disorder	Maple syrup urine disease, type Ia	Autosomal recessive
BCKDHB	Metabolic Disorder	Maple syrup urine disease, type Ib	Autosomal recessive
BCL11A	Syndromic Disorder	Dias-Logan syndrome	Autosomal dominant
BCOR	Syndromic Disorder	Microphthalmia, syndromic 2	X-linked dominant
BCS1L	Syndromic Disorder	Bjornstad syndrome; GRACILE syndrome; Leigh syndrome; Mitochondrial complex III deficiency, nuclear type 1	Autosomal recessive
BEST1	Vision Disorder	Bestrophinopathy, autosomal recessive; Retinitis pigmentosa-50	Autosomal recessive
BEST1	Vision Disorder	Macular dystrophy, vitelliform, 2; Vitreoretinochoroidopathy	Autosomal dominant
BFSP2	Vision Disorder	Cataract 12, multiple types	Autosomal dominant
BGN	Syndromic Disorder	Meester-Loeys syndrome; Spondyloepimetaphyseal dysplasia, X-linked	X-linked
BICD2	Syndromic Disorder	Spinal muscular atrophy, lower extremity-predominant, 2, AD	Autosomal dominant
BIN1	Musculoskeletal Disorder	Myopathy, centronuclear, autosomal recessive	Autosomal recessive
BLM	Syndromic Disorder	Bloom syndrome	Autosomal recessive
BMP15	Syndromic Disorder	Ovarian dysgenesis 2; Premature ovarian failure 4	X-linked
BMP4	Syndromic Disorder	Microphthalmia, syndromic 6	Autosomal dominant
BMPER	Syndromic Disorder	Diaphanospondylodysostosis	Autosomal recessive
BMPR1A	Hereditary Cancer	Polyposis, juvenile intestinal	Autosomal dominant
BMPR1B	Syndromic Disorder	Brachydactyly, type A1, D; Brachydactyly, type A2	Autosomal dominant
BMPR2	Cardiovascular Disorder	Pulmonary hypertension, familial primary, 1, with or without HHT; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated; Pulmonary venoocclusive disease 1	Autosomal dominant
BOLA3	Metabolic Disorder	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	Autosomal recessive
BRAF	Syndromic Disorder	Cardiofaciocutaneous syndrome; Noonan syndrome 7	Autosomal dominant
BRAT1	Neurologic Disorder	Rigidity and multifocal seizure syndrome, lethal neonatal	Autosomal recessive
BRCA1	Hereditary Cancer	Hereditary breast and ovarian cancer syndrome	Autosomal dominant
BRCA2	Hereditary Cancer	Hereditary breast and ovarian cancer syndrome	Autosomal dominant
BRIP1	Hereditary Cancer	Genetic susceptibility to cancer	Autosomal dominant
BRWD3	Neurologic Disorder	Intellectual functioning disability	X-linked recessive
BSCL2	Neurologic Disorder	Lipodystrophy, congenital generalized, type 2	Autosomal recessive
BSND	Kidney Disorder	Bartter syndrome, type 4a	Autosomal recessive
BTD	Metabolic Disorder	Biotinidase deficiency	Autosomal recessive
BTK	Immunological Disorder	Agammaglobulinemia, X-linked 1	X-linked recessive
BUB1B	Syndromic Disorder	Mosaic variegated aneuploidy syndrome 1	Autosomal recessive
C19ORF12	Neurodegenerative Disorder	Neurodegeneration with brain iron accumulation 4	Autosomal recessive
C1QA	Immunological Disorder	C1q deficiency	Autosomal recessive
C1QB	Metabolic Disorder	C1q deficiency	Autosomal recessive
C1QC	Immunological Disorder	C1q deficiency	Autosomal recessive
C1QTNF5	Vision Disorder	Retinal degeneration, late-onset, autosomal dominant	Autosomal dominant
C1S	Syndromic Disorder	Ehlers-Danlos syndrome, periodontal type, 2	Autosomal dominant
C3	Immunological Disorder	C3 deficiency	Autosomal recessive
C5	Immunological Disorder	C5 deficiency	Autosomal dominant
C7	Immunological Disorder	C7 deficiency	Autosomal recessive
C8B	Immunological Disorder	C8 deficiency, type II	Autosomal recessive
C9	Immunological Disorder	C9 deficiency	Autosomal recessive
CA2	Kidney Disorder	Osteopetrosis, autosomal recessive 3, with renal tubular acidosis	Autosomal recessive
CA5A	Metabolic Disorder	Hyperammonemia due to carbonic anhydrase VA deficiency	Autosomal recessive
CABP2	Hearing Disorder	Deafness, autosomal recessive 93	Autosomal recessive
CABP4	Vision Disorder	Cone-rod synaptic disorder, congenital nonprogressive	Autosomal recessive
CACNA1A	Neurologic Disorder	Episodic ataxia, type 2	Autosomal dominant
CACNA1C	Cardiovascular Disorder	Brugada syndrome 3	Autosomal dominant
CACNA1F	Vision Disorder	Congenital stationary night blindness	X-linked
CACNA1S	Musculoskeletal Disorder	Hypokalemic periodic paralysis, type 1; Malignant hyperthermia susceptibility 5	Autosomal dominant
CACNA2D4	Vision Disorder	Retinal cone dystrophy 4	Autosomal recessive
CACNB2	Cardiovascular Disorder	Brugada syndrome 4	Autosomal dominant
CAD	Neurologic Disorder	Epileptic encephalopathy, early infantile, 50	Autosomal recessive
CALM1	Cardiovascular Disorder	Long QT syndrome 14; Ventricular tachycardia, catecholaminergic polymorphic, 4	Autosomal dominant
CALM2	Cardiovascular Disorder	Long QT syndrome 15	Autosomal dominant
CALM3	Cardiovascular Disorder	Long QT syndrome	Autosomal dominant
CAMTA1	Neurologic Disorder	Non-progressive cerebellar ataxia with intellectual disability	Autosomal dominant
CANT1	Syndromic Disorder	Desbuquois dysplasia 1	Autosomal recessive
CAPN3	Musculoskeletal Disorder	Muscular dystrophy, limb-girdle, type 2A	Autosomal recessive
CAPN5	Vision Disorder	Vitreoretinopathy, neovascular inflammatory	Autosomal dominant
CARD11	Immunological Disorder	Immunodeficiency 11	Autosomal recessive
CARD9	Immunological Disorder	Familial chronic mucocutaneous candidiasis	Autosomal recessive
CASK	Syndromic Disorder	Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia	X-linked dominant
CASQ2	Cardiovascular Disorder	Catecholaminergic polymorphic ventricular tachycardia	Autosomal recessive
CASR	Endocrine Disorder	Hypercalciuric hypercalcemia; Hypocalciuric hypercalcemia, type I; Neonatal hyperparathyroidism	Autosomal dominant
CASR	Endocrine Disorder	Hypocalcemia	Autosomal dominant
CAST	Skin Disorder	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	Autosomal recessive
CAV1	Cardiovascular Disorder	Pulmonary hypertension, primary, 3	Autosomal dominant
CAV3	Musculoskeletal Disorder	Muscular dystrophy, limb-girdle, type IC	Autosomal dominant
CBL	Syndromic Disorder	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Autosomal dominant
CC2D1A	Neurologic Disorder	Intellectual functioning disability	Autosomal recessive
CC2D2A	Syndromic Disorder	COACH syndrome; Joubert syndrome 9; Meckel syndrome 6	Autosomal recessive
CCBE1	Syndromic Disorder	Hennekam lymphangiectasia-lymphedema syndrome 1	Autosomal recessive
CCDC103	Respiratory Disorder	Ciliary dyskinesia, primary, 17	Autosomal recessive
CCDC39	Respiratory Disorder	Ciliary dyskinesia, primary, 14	Autosomal recessive
CCDC40	Respiratory Disorder	Ciliary dyskinesia, primary, 15	Autosomal recessive
CCDC65	Respiratory Disorder	Ciliary dyskinesia, primary, 27	Autosomal recessive
CCM2	Neurologic Disorder	Cerebral cavernous malformations-2	Autosomal dominant
CCN6	Musculoskeletal Disorder	Spondyloepiphyseal dysplasia tarda with progressive arthropathy	Autosomal recessive
CCNO	Respiratory Disorder	Ciliary dyskinesia, primary, 29	Autosomal recessive
CD36	Hematologic Disorder	Platelet glycoprotein IV deficiency	Autosomal recessive
CD3D	Immunological Disorder	Immunodeficiency 19	Autosomal recessive
CD3E	Immunological Disorder	Immunodeficiency 18; Immunodeficiency 18, SCID variant	Autosomal recessive
CD3G	Immunological Disorder	Immunodeficiency 17, CD3 gamma deficient	Autosomal recessive
CD40	Immunological Disorder	Immunodeficiency with hyper-IgM, type 3	Autosomal recessive
CD40LG	Immunological Disorder	Immunodeficiency, X-linked, with hyper-IgM	X-linked recessive
CD79A	Immunological Disorder	Agammaglobulinemia 3	Autosomal recessive
CD81	Syndromic Disorder	Immunodeficiency, common variable, 6	Autosomal recessive
CDAN1	Hematologic Disorder	Dyserythropoietic anemia, congenital, type Ia	Autosomal recessive
CDC14A	Hearing Disorder	Deafness, autosomal recessive 105	Autosomal recessive
CDC45	Syndromic Disorder	Meier-Gorlin syndrome 7	Autosomal recessive
CDC73	Hereditary Cancer	Hyperparathyroidism-jaw tumor syndrome	Autosomal dominant
CDCA7	Immunological Disorder	Immunodeficiency-centromeric instability-facial anomalies syndrome 3	Autosomal recessive
CDH1	Hereditary Cancer	Hereditary diffuse carcinoma of stomach	Autosomal dominant
CDH2	Cardiovascular Disorder	Arrhythmogenic right ventricular dysplasia	Autosomal dominant
CDH23	Hearing Disorder	Hearing loss; Usher syndrome type 1	Autosomal recessive
CDH3	Syndromic Disorder	Ectodermal dysplasia, ectrodactyly, and macular dystrophy; Hypotrichosis, congenital, with juvenile macular dystrophy	Autosomal recessive
CDHR1	Vision Disorder	Cone-rod dystrophy 15; Retinitis pigmentosa 65	Autosomal recessive
CDK13	Syndromic Disorder	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	Autosomal dominant
CDK4	Hereditary Cancer	Melanoma, cutaneous malignant, 3	Autosomal dominant
CDK5RAP2	Syndromic Disorder	Microcephaly 3, primary, autosomal recessive	Autosomal recessive
CDKL5	Neurologic Disorder	Epileptic encephalopathy, early infantile, 2	X-linked dominant
CDKN1B	Hereditary Cancer	Multiple endocrine neoplasia, type IV	Autosomal dominant
CDKN1C	Syndromic Disorder	Beckwith-Wiedemann syndrome	Autosomal dominant
CDKN2A	Hereditary Cancer	Melanoma, cutaneous malignant, 2	Autosomal dominant
CDON	Syndromic Disorder	Holoprosencephaly 11	Autosomal dominant
CDSN	Skin Disorder	Hypotrichosis 2	Autosomal dominant
CEBPA	Hereditary Cancer	Leukemia, acute myeloid, susceptibility to	Autosomal dominant
CEL	Endocrine Disorder	Maturity-onset diabetes of the young, type VIII	Autosomal dominant
CENPF	Syndromic Disorder	Stromme syndrome	Autosomal recessive
CENPJ	Neurologic Disorder	Microcephaly 6, primary, autosomal recessive	Autosomal recessive
CEP104	Neurologic Disorder	Joubert syndrome 25	Autosomal recessive
CEP152	Syndromic Disorder	Seckel syndrome 5	Autosomal recessive
CEP164	Syndromic Disorder	Nephronophthisis 15	Autosomal recessive
CEP290	Vision Disorder	Leber congenital amaurosis 10	Autosomal recessive
CEP41	Syndromic Disorder	Joubert syndrome 15	Autosomal recessive
CEP78	Syndromic Disorder	Cone-rod dystrophy and hearing loss	Autosomal recessive
CEP83	Kidney Disorder	Nephronophthisis 18	Autosomal recessive
CERKL	Vision Disorder	Retinitis pigmentosa 26	Autosomal recessive
CFAP298	Respiratory Disorder	Ciliary dyskinesia, primary, 26	Autosomal recessive
CFAP418	Vision Disorder	Bardet-Biedl syndrome 21; Cone-rod dystrophy 16	Autosomal recessive
CFH	Vision Disorder	Basal laminar drusen; Macular degeneration, age-related, 4	Autosomal dominant
CFHR5	Kidney Disorder	Nephropathy due to CFHR5 deficiency	Autosomal dominant
CFI	Immunological Disorder	Hemolytic uremic syndrome, atypical, susceptibility to, 3	Autosomal dominant
CFL2	Musculoskeletal Disorder	Nemaline myopathy 7, autosomal recessive	Autosomal recessive
CFP	Immunological Disorder	Properdin deficiency, X-linked	X-linked recessive
CFTR	Respiratory Disorder	Cystic fibrosis	Autosomal recessive
CHAMP1	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
CHCHD10	Neurodegenerative Disorder	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2	Autosomal dominant
CHD2	Neurologic Disorder	Epileptic encephalopathy, childhood-onset	Autosomal dominant
CHD7	Syndromic Disorder	CHARGE syndrome; Hypogonadotropic hypogonadism 5 with or without anosmia	Autosomal dominant
CHEK2	Hereditary Cancer	Breast cancer, susceptibility to	Autosomal dominant
CHKB	Musculoskeletal Disorder	Muscular dystrophy, congenital, megaconial type	Autosomal recessive
CHM	Vision Disorder	Choroideremia	X-linked recessive
CHMP1A	Syndromic Disorder	Pontocerebellar hypoplasia, type 8	Autosomal recessive
CHRDL1	Vision Disorder	Megalocornea 1, X-linked	X-linked recessive
CHRNA1	Syndromic Disorder	Myasthenic syndrome, congenital, 1A, slow-channel	Autosomal dominant
CHRNA1	Syndromic Disorder	Myasthenic syndrome, congenital, 1B, fast-channel	Autosomal dominant
CHRNB1	Syndromic Disorder	Myasthenic syndrome, congenital, 2A, slow-channel	Autosomal dominant
CHRND	Syndromic Disorder	Multiple pterygium syndrome, lethal type	Autosomal recessive
CHRNE	Neurologic Disorder	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	Autosomal recessive
CHRNG	Syndromic Disorder	Escobar syndrome; Multiple pterygium syndrome, lethal type	Autosomal recessive
CHST14	Musculoskeletal Disorder	Ehlers-Danlos syndrome, musculocontractural type 1	Autosomal recessive
CHST6	Vision Disorder	Macular corneal dystrophy	Autosomal recessive
CIB2	Hearing Disorder	Deafness, autosomal recessive 48; Usher syndrome, type IJ	Autosomal recessive
CIITA	Immunological Disorder	Bare lymphocyte syndrome, type II, complementation group A	Autosomal recessive
CLCN1	Musculoskeletal Disorder	Myotonia congenita	Autosomal dominant; Autosomal recessive
CLCN2	Neurologic Disorder	Leukoencephalopathy with ataxia	Autosomal recessive
CLCN4	Neurologic Disorder	Intellectual functioning disability	X-linked recessive
CLCN5	Kidney Disorder	Dent disease	X-linked recessive
CLCNKB	Kidney Disorder	Bartter syndrome, type 3	Autosomal recessive
CLDN14	Hearing Disorder	Sensorineural hearing loss	Autosomal recessive
CLDN16	Kidney Disorder	Hypomagnesemia 3, renal	Autosomal recessive
CLN3	Neurologic Disorder	Ceroid lipofuscinosis, neuronal, 3	Autosomal recessive
CLN5	Neurologic Disorder	Ceroid lipofuscinosis, neuronal, 5	Autosomal recessive
CLN6	Neurologic Disorder	Ceroid lipofuscinosis, neuronal, 6	Autosomal recessive
CLN8	Neurologic Disorder	Ceroid lipofuscinosis, neuronal, 8; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant	Autosomal recessive
CLPB	Metabolic Disorder	3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia	Autosomal recessive
CLPP	Syndromic Disorder	Perrault syndrome 3	Autosomal recessive
CLRN1	Syndromic Disorder	Retinitis pigmentosa 61; Usher syndrome, type 3A	Autosomal recessive
CNGA1	Vision Disorder	Retinitis pigmentosa 49	Autosomal recessive
CNGA3	Vision Disorder	Achromatopsia 2	Autosomal recessive
CNGB1	Vision Disorder	Retinitis pigmentosa 45	Autosomal recessive
CNGB3	Vision Disorder	Achromatopsia 3	Autosomal recessive
CNNM4	Syndromic Disorder	Jalili syndrome	Autosomal recessive
COA6	Metabolic Disorder	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	Autosomal recessive
COCH	Hearing Disorder	Deafness, autosomal dominant 9	Autosomal dominant
COG1	Metabolic Disorder	Congenital disorder of glycosylation, type IIg	Autosomal recessive
COG4	Metabolic Disorder	Congenital disorder of glycosylation, type IIj	Autosomal recessive
COG5	Neurologic Disorder	Congenital disorder of glycosylation, type IIi	Autosomal recessive
COG6	Syndromic Disorder	Congenital disorder of glycosylation, type IIl; Shaheen syndrome	Autosomal recessive
COG7	Metabolic Disorder	Congenital disorder of glycosylation, type IIe	Autosomal recessive
COL10A1	Musculoskeletal Disorder	Metaphyseal chondrodysplasia, Schmid type	Autosomal dominant
COL11A1	Musculoskeletal Disorder	Marshall syndrome; Stickler syndrome, type II	Autosomal dominant
COL11A2	Syndromic Disorder	Fibrochondrogenesis 2; Otospondylomegaepiphyseal dysplasia	Autosomal recessive
COL17A1	Syndromic Disorder	Epidermolysis bullosa, junctional, localisata variant; Epidermolysis bullosa, junctional, non-Herlitz type	Autosomal recessive
COL18A1	Vision Disorder	Knobloch syndrome, type 1	Autosomal recessive
COL1A1	Musculoskeletal Disorder	Caffey disease; Ehlers-Danlos syndrome; Osteogenesis imperfecta	Autosomal dominant
COL1A2	Musculoskeletal Disorder	Ehlers-Danlos syndrome, type VIIB; Osteogenesis imperfecta	Autosomal dominant
COL27A1	Musculoskeletal Disorder	Steel syndrome	Autosomal recessive
COL2A1	Musculoskeletal Disorder	Achondrogenesis, type II or hypochondrogenesis; Kniest dysplasia; Stickler syndrome, type I	Autosomal dominant
COL3A1	Syndromic Disorder	Ehlers-Danlos syndrome, type IV	Autosomal dominant
COL4A1	Neurologic Disorder	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps; Brain small vessel disease with or without ocular anomalies; Porencephaly 1	Autosomal dominant
COL4A3	Syndromic Disorder	Alport syndrome	Autosomal dominant; Autosomal recessive
COL4A4	Syndromic Disorder	Alport syndrome	Autosomal dominant; Autosomal recessive
COL4A5	Syndromic Disorder	Alport syndrome	X-linked dominant
COL5A1	Syndromic Disorder	Ehlers-Danlos syndrome, classic type	Autosomal dominant
COL5A2	Skin Disorder	Ehlers-Danlos syndrome, classic type	Autosomal dominant
COL6A1	Musculoskeletal Disorder	Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1	Autosomal dominant; Autosomal recessive
COL6A2	Musculoskeletal Disorder	Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1	Autosomal dominant; Autosomal recessive
COL6A3	Musculoskeletal Disorder	Bethlem myopathy 1; Ullrich congenital muscular dystrophy 1	Autosomal dominant; Autosomal recessive
COL7A1	Skin Disorder	Dystrophic epidermolysis bullosa	Autosomal dominant; Autosomal recessive
COL9A1	Syndromic Disorder	Stickler syndrome, type IV	Autosomal recessive
COL9A2	Musculoskeletal Disorder	Epiphyseal dysplasia, multiple, 2	Autosomal dominant
COL9A3	Musculoskeletal Disorder	Epiphyseal dysplasia, multiple, 3, with or without myopathy	Autosomal dominant
COLQ	Neurologic Disorder	Myasthenic syndrome, congenital, 5	Autosomal recessive
COQ2	Syndromic Disorder	Coenzyme Q10 deficiency, primary, 1	Autosomal recessive
COQ4	Metabolic Disorder	Coenzyme Q10 deficiency, primary, 7	Autosomal recessive
COQ6	Metabolic Disorder	Coenzyme Q10 deficiency, primary, 6	Autosomal recessive
COQ8A	Neurologic Disorder	Coenzyme Q10 deficiency, primary, 4	Autosomal recessive
CORO1A	Immunological Disorder	Immunodeficiency 8	Autosomal recessive
COX15	Syndromic Disorder	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; Leigh syndrome due to cytochrome c oxidase deficiency	Autosomal recessive
COX20	Metabolic Disorder	Mitochondrial complex IV deficiency	Autosomal recessive
CP	Metabolic Disorder	Hemosiderosis, systemic, due to aceruloplasminemia	Autosomal recessive
CPA6	Neurologic Disorder	Febrile seizures, familial, 11	Autosomal recessive
CPLANE1	Syndromic Disorder	Joubert syndrome 17; Orofaciodigital syndrome VI	Autosomal recessive
CPOX	Metabolic Disorder	Coproporphyria	Autosomal dominant
CPS1	Metabolic Disorder	Carbamoylphosphate synthetase I deficiency	Autosomal recessive
CPT1A	Metabolic Disorder	CPT deficiency, hepatic, type IA	Autosomal recessive
CPT2	Metabolic Disorder	CPT II deficiency, infantile; CPT II deficiency, lethal neonatal; CPT II deficiency, myopathic, stress-induced	Autosomal recessive
CR2	Immunological Disorder	Immunodeficiency, common variable, 7	Autosomal recessive
CRB1	Vision Disorder	Leber congenital amaurosis 8; Retinitis pigmentosa	Autosomal recessive
CRBN	Neurologic Disorder	Intellectual functioning disability	Autosomal recessive
CREBBP	Syndromic Disorder	Rubinstein-Taybi syndrome 1	Autosomal dominant
CRLF1	Neurologic Disorder	Cold-induced sweating syndrome 1	Autosomal recessive
CRPPA	Musculoskeletal Disorder	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	Autosomal recessive
CRTAP	Musculoskeletal Disorder	Osteogenesis imperfecta, type VII	Autosomal recessive
CRX	Vision Disorder	Cone-rod retinal dystrophy-2; Leber congenital amaurosis 7	Autosomal dominant
CRYAB	Cardiovascular Disorder	Cardiomyopathy, dilated, 1II; Myopathy, myofibrillar, 2	Autosomal dominant
CRYBB3	Immunological Disorder	Cataract 22	Autosomal recessive
CRYGC	Vision Disorder	Cataract 2, multiple types	Autosomal dominant
CSF1R	Neurodegenerative Disorder	Leukoencephalopathy, diffuse hereditary, with spheroids	Autosomal dominant
CSF3R	Immunological Disorder	Congenital neutropenia	Autosomal recessive
CSNK2A1	Neurologic Disorder	Okur-Chung neurodevelopmental syndrome	Autosomal dominant
CSPP1	Syndromic Disorder	Joubert syndrome 21	Autosomal recessive
CSRP3	Cardiovascular Disorder	Cardiomyopathy, hypertrophic, 12	Autosomal dominant
CSTB	Neurologic Disorder	Unverricht-Lundborg syndrome	Autosomal recessive
CTC1	Syndromic Disorder	Cerebroretinal microangiopathy with calcifications and cysts	Autosomal recessive
CTCF	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
CTH	Metabolic Disorder	Cystathioninuria	Autosomal recessive
CTLA4	Immunological Disorder	Autoimmune lymphoproliferative syndrome, type V; Systemic lupus erythematosus, susceptibility to	Autosomal dominant
CTNNB1	Syndromic Disorder	Intellectual functioning disability	Autosomal dominant
CTNS	Syndromic Disorder	Cystinosis, nephropathic	Autosomal recessive
CTPS1	Immunological Disorder	Immunodeficiency 24	Autosomal recessive
CTRC	Endocrine Disorder	Pancreatitis, chronic, susceptibility to	Autosomal dominant
CTSA	Metabolic Disorder	Galactosialidosis	Autosomal recessive
CTSC	Syndromic Disorder	Haim-Munk syndrome; Papillon-Lefevre syndrome	Autosomal recessive
CTSD	Neurologic Disorder	Ceroid lipofuscinosis, neuronal, 10	Autosomal recessive
CTSK	Musculoskeletal Disorder	Pycnodysostosis	Autosomal recessive
CUBN	Metabolic Disorder	Familial megaloblastic anemia	Autosomal recessive
CUL3	Endocrine Disorder	Pseudohypoaldosteronism, type IIE	Autosomal dominant
CUL4B	Neurologic Disorder	Intellectual functioning disability	X-linked recessive
CUL7	Musculoskeletal Disorder	3-M syndrome 1	Autosomal recessive
CWF19L1	Neurologic Disorder	Spinocerebellar ataxia	Autosomal recessive
CXCR4	Immunological Disorder	WHIM syndrome	Autosomal dominant
CYB5R3	Metabolic Disorder	Methemoglobinemia, type I; Methemoglobinemia, type II	Autosomal recessive
CYBA	Immunological Disorder	Chronic granulomatous disease	Autosomal recessive
CYBB	Immunological Disorder	Chronic granulomatous disease, X-linked; Immunodeficiency 34, mycobacteriosis, X-linked	X-linked recessive
CYLD	Hereditary Cancer	Brooke-Spiegler syndrome	Autosomal dominant
CYP11A1	Metabolic Disorder	Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete	Autosomal recessive
CYP11B1	Endocrine Disorder	Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency	Autosomal recessive
CYP11B2	Endocrine Disorder	Hypoaldosteronism, congenital, due to CMO I deficiency; Hypoaldosteronism, congenital, due to CMO II deficiency	Autosomal recessive
CYP17A1	Endocrine Disorder	Congenital adrenal hyperplasia	Autosomal recessive
CYP19A1	Endocrine Disorder	Aromatase excess syndrome	Autosomal dominant
CYP1B1	Vision Disorder	Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset	Autosomal recessive
CYP21A2	Endocrine Disorder	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency	Autosomal recessive
CYP24A1	Endocrine Disorder	Hypercalcemia, infantile, 1	Autosomal recessive
CYP27A1	Syndromic Disorder	Cerebrotendinous xanthomatosis	Autosomal recessive
CYP27B1	Metabolic Disorder	Vitamin D-dependent rickets, type I	Autosomal recessive
CYP2U1	Neurodegenerative Disorder	Spastic paraplegia	Autosomal recessive
CYP4F22	Skin Disorder	Congenital ichthyosis of skin	Autosomal recessive
CYP4V2	Vision Disorder	Bietti crystalline corneoretinal dystrophy	Autosomal recessive
CYP7B1	Neurologic Disorder	Spastic paraplegia	Autosomal recessive
D2HGDH	Neurologic Disorder	D-2-hydroxyglutaric aciduria	Autosomal recessive
DARS2	Neurologic Disorder	Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation	Autosomal recessive
DBH	Metabolic Disorder	Dopamine beta-hydroxylase deficiency	Autosomal recessive
DBT	Metabolic Disorder	Maple syrup urine disease, type II	Autosomal recessive
DCAF17	Syndromic Disorder	Woodhouse-Sakati syndrome	Autosomal recessive
DCC	Neurologic Disorder	Mirror movements 1	Autosomal dominant
DCDC2	Kidney Disorder	Nephronophthisis 19	Autosomal recessive
DCLRE1C	Immunological Disorder	Omenn syndrome; Severe combined immunodeficiency, Athabascan type	Autosomal recessive
DCN	Vision Disorder	Corneal dystrophy, congenital stromal	Autosomal dominant
DCTN1	Neurodegenerative Disorder	Amyotrophic lateral sclerosis, susceptibility to; Perry syndrome	Autosomal dominant
DCX	Neurologic Disorder	Lissencephaly, X-linked; Subcortical laminal heteropia, X-linked	X-linked
DCXR	Metabolic Disorder	Pentosuria	Autosomal recessive
DDB2	Skin Disorder	Xeroderma pigmentosum, group E, DDB-negative subtype	Autosomal recessive
DDC	Neurologic Disorder	Aromatic L-amino acid decarboxylase deficiency	Autosomal recessive
DDHD2	Neurologic Disorder	Spastic paraplegia	Autosomal recessive
DDR2	Syndromic Disorder	Spondylometaepiphyseal dysplasia, short limb-hand type	Autosomal recessive
DDX11	Syndromic Disorder	Warsaw breakage syndrome	Autosomal recessive
DDX3X	Neurologic Disorder	Intellectual functioning disability	X-linked dominant
DDX41	Hereditary Cancer	Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to	Autosomal dominant
DEPDC5	Neurologic Disorder	Epilepsy, familial focal, with variable foci 1	Autosomal dominant
DES	Cardiovascular Disorder	Cardiomyopathy, dilated, 1I; Myopathy, myofibrillar, 1	Autosomal dominant
DGUOK	Liver Disorder	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	Autosomal recessive
DHCR7	Syndromic Disorder	Smith-Lemli-Opitz syndrome	Autosomal recessive
DHDDS	Vision Disorder	Retinitis pigmentosa 59	Autosomal recessive
DHODH	Syndromic Disorder	Miller syndrome	Autosomal recessive
DHTKD1	Metabolic Disorder	2-aminoadipic 2-oxoadipic aciduria	Autosomal recessive
DIAPH1	Hearing Disorder	Deafness, autosomal dominant 1	Autosomal dominant
DICER1	Hereditary Cancer	Pleuropulmonary blastoma	Autosomal dominant
DIS3L2	Syndromic Disorder	Perlman syndrome	Autosomal recessive
DKC1	Syndromic Disorder	Dyskeratosis congenita	X-linked recessive
DLAT	Neurologic Disorder	Pyruvate dehydrogenase E2 deficiency	Autosomal recessive
DLD	Metabolic Disorder	Dihydrolipoamide dehydrogenase deficiency	Autosomal recessive
DLG3	Neurologic Disorder	Intellectual functioning disability	X-linked recessive
DLG4	Syndromic Disorder	Intellectual developmental disorder, autosomal dominant 62	Autosomal dominant
DLL3	Musculoskeletal Disorder	Spondylocostal dysostosis 1, autosomal recessive	Autosomal recessive
DLX3	Dental Disorder	Amelogenesis imperfecta, type IV; Trichodontoosseous syndrome	Autosomal dominant
DMD	Musculoskeletal Disorder	Becker muscular dystrophy; Duchenne muscular dystrophy	X-linked recessive
DMGDH	Metabolic Disorder	Dimethylglycine dehydrogenase deficiency	Autosomal recessive
DMP1	Endocrine Disorder	Hypophosphatemic rickets, AR	Autosomal recessive
DNA2	Syndromic Disorder	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6	Autosomal dominant
DNAAF1	Respiratory Disorder	Ciliary dyskinesia, primary, 13	Autosomal recessive
DNAAF11	Respiratory Disorder	Ciliary dyskinesia, primary, 19	Autosomal recessive
DNAAF2	Respiratory Disorder	Ciliary dyskinesia, primary, 10	Autosomal recessive
DNAAF3	Respiratory Disorder	Ciliary dyskinesia, primary, 2	Autosomal recessive
DNAAF4	Respiratory Disorder	Ciliary dyskinesia, primary, 25	Autosomal recessive
DNAAF5	Respiratory Disorder	Ciliary dyskinesia, primary, 18	Autosomal recessive
DNAH11	Respiratory Disorder	Ciliary dyskinesia, primary, 7, with or without situs inversus	Autosomal recessive
DNAH5	Respiratory Disorder	Ciliary dyskinesia, primary, 3, with or without situs inversus	Autosomal recessive
DNAI1	Syndromic Disorder	Ciliary dyskinesia, primary, 1, with or without situs inversus	Autosomal recessive
DNAI2	Respiratory Disorder	Ciliary dyskinesia, primary, 9, with or without situs inversus	Autosomal recessive
DNAJB2	Neurologic Disorder	Spinal muscular atrophy, distal, autosomal recessive, 5	Autosomal recessive
DNAJB6	Musculoskeletal Disorder	Muscular dystrophy, limb-girdle, type 1E	Autosomal dominant
DNAJC19	Cardiovascular Disorder	3-methylglutaconic aciduria, type V	Autosomal recessive
DNAJC6	Neurologic Disorder	Parkinson disease 19a, juvenile-onset; Parkinson disease 19b, early-onset	Autosomal recessive
DNAL1	Respiratory Disorder	Ciliary dyskinesia, primary, 16	Autosomal recessive
DNM1	Neurologic Disorder	Epileptic encephalopathy, early infantile, 31	Autosomal dominant
DNM2	Musculoskeletal Disorder	Myopathy, centronuclear	Autosomal dominant
DNMT1	Neurologic Disorder	Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; Neuropathy, hereditary sensory, type IE	Autosomal dominant
DNMT3A	Syndromic Disorder	Tatton-Brown-Rahman syndrome	Autosomal dominant
DNMT3B	Immunological Disorder	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	Autosomal recessive
DOCK2	Immunological Disorder	Immunodeficiency 40	Autosomal recessive
DOCK6	Syndromic Disorder	Adams-Oliver syndrome 2	Autosomal recessive
DOCK7	Neurologic Disorder	Epileptic encephalopathy, early infantile, 23	Autosomal recessive
DOCK8	Immunological Disorder	Severe combined immunodeficiency disease	Autosomal recessive
DOK7	Musculoskeletal Disorder	Myasthenic syndrome, congenital, 10	Autosomal recessive
DOLK	Syndromic Disorder	Congenital disorder of glycosylation, type Im	Autosomal recessive
DPAGT1	Syndromic Disorder	Congenital disorder of glycosylation, type Ij; Myasthenic syndrome, congenital, 13, with tubular aggregates	Autosomal recessive
DPYD	Metabolic Disorder	5-fluorouracil toxicity; Dihydropyrimidine dehydrogenase deficiency	Autosomal recessive
DPYS	Metabolic Disorder	Dihydropyrimidinuria	Autosomal recessive
DRAM2	Vision Disorder	Cone-rod dystrophy 21	Autosomal recessive
DRC1	Respiratory Disorder	Ciliary dyskinesia, primary, 21	Autosomal recessive
DSC2	Cardiovascular Disorder	Arrhythmogenic right ventricular dysplasia 11; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair	Autosomal dominant
DSG2	Cardiovascular Disorder	Arrhythmogenic right ventricular dysplasia 10	Autosomal dominant
DSG4	Skin Disorder	Hypotrichosis 6	Autosomal recessive
DSP	Cardiovascular Disorder	Arrhythmogenic right ventricular dysplasia 8	Autosomal dominant
DSPP	Dental Disorder	Dentin dysplasia, type II; Dentinogenesis imperfecta, Shields type II	Autosomal dominant
DST	Skin Disorder	Epidermolysis bullosa simplex	Autosomal recessive
DTNBP1	Syndromic Disorder	Hermansky-Pudlak syndrome 7	Autosomal recessive
DUOX2	Endocrine Disorder	Thyroid dyshormonogenesis 6	Autosomal recessive
DUOXA2	Endocrine Disorder	Thyroid dyshormonogenesis 5	Autosomal recessive
DVL1	Syndromic Disorder	Robinow syndrome	Autosomal dominant
DVL3	Syndromic Disorder	Robinow syndrome	Autosomal dominant
DYM	Musculoskeletal Disorder	Dyggve-Melchior-Clausen disease; Smith-McCort dysplasia	Autosomal recessive
DYNC1H1	Neurologic Disorder	Charcot-Marie-Tooth disease, axonal, type 20; Intellectual functioning disability; Spinal muscular atrophy, lower extremity-predominant 1, AD	Autosomal dominant
DYNC2H1	Syndromic Disorder	Short-rib thoracic dysplasia 3 with or without polydactyly	Autosomal recessive
DYRK1A	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
DYSF	Musculoskeletal Disorder	Miyoshi muscular dystrophy 1; Muscular dystrophy, limb- girdle, type 2B	Autosomal recessive
EARS2	Metabolic Disorder	Combined oxidative phosphorylation deficiency 12	Autosomal recessive
EBP	Musculoskeletal Disorder	Chondrodysplasia punctata, X-linked dominant; MEND syndrome	X-linked
ECM1	Syndromic Disorder	Urbach-Wiethe disease	Autosomal recessive
EDA	Skin Disorder	Ectodermal dysplasia 1, hypohidrotic, X-linked	X-linked recessive
EDAR	Syndromic Disorder	Ectodermal dysplasia	Autosomal recessive
EDARADD	Syndromic Disorder	Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant	Autosomal dominant
EDN3	Syndromic Disorder	Waardenburg syndrome, type 4B	Autosomal dominant
EDNRB	Syndromic Disorder	Hirschsprung disease, susceptibility to, 2; Waardenburg syndrome, type 4A	Autosomal dominant
EFEMP1	Vision Disorder	Doyne honeycomb degeneration of retina	Autosomal dominant
EFEMP2	Skin Disorder	Cutis laxa	Autosomal recessive
EFHC1	Neurologic Disorder	Epilepsy, juvenile absence, susceptibility to, 1; Myoclonic epilepsy, juvenile, susceptibility to, 1	Autosomal dominant
EFTUD2	Musculoskeletal Disorder	Mandibulofacial dysostosis, Guion-Almeida type	Autosomal dominant
EGFR	Hereditary Cancer	Nonsmall cell lung cancer, susceptibility to	Autosomal dominant
EGLN1	Hematologic Disorder	Erythrocytosis, familial, 3	Autosomal dominant
EGR2	Neurologic Disorder	Charcot-Marie-Tooth disease, type 1D; Dejerine-Sottas disease; Neuropathy, congenital hypomyelinating, 1	Autosomal dominant
EHMT1	Syndromic Disorder	Kleefstra syndrome	Autosomal dominant
EIF2AK3	Endocrine Disorder	Wolcott-Rallison syndrome	Autosomal recessive
EIF2AK4	Respiratory Disorder	Pulmonary venoocclusive disease 2	Autosomal recessive
EIF2B1	Neurodegenerative Disorder	Leukoencephalopathy with vanishing white matter	Autosomal recessive
EIF2B2	Neurodegenerative Disorder	Leukoencephalopathy with vanishing white matter	Autosomal recessive
EIF2B3	Neurodegenerative Disorder	Leukoencephalopathy with vanishing white matter	Autosomal recessive
EIF2B5	Neurologic Disorder	Leukoencephalopathy with vanishing white matter	Autosomal recessive
ELAC2	Metabolic Disorder	Combined oxidative phosphorylation deficiency 17	Autosomal recessive
ELANE	Immunological Disorder	Congenital neutropenia; Neutropenia, cyclic	Autosomal dominant
ELN	Cardiovascular Disorder	Supravalvar aortic stenosis	Autosomal dominant
ELOVL4	Vision Disorder	Stargardt disease 3	Autosomal dominant
ELP1	Neurologic Disorder	Dysautonomia, familial	Autosomal recessive
ELP2	Neurologic Disorder	Intellectual functioning disability	Autosomal recessive
EMC1	Syndromic Disorder	Cerebellar atrophy, visual impairment, and psychomotor retardation	Autosomal recessive
EMD	Musculoskeletal Disorder	Emery-Dreifuss muscular dystrophy	X-linked recessive
ENAM	Syndromic Disorder	Amelogenesis imperfecta	Autosomal dominant
ENG	Neurologic Disorder	Telangiectasia, hereditary hemorrhagic, type 1	Autosomal dominant
ENPP1	Cardiovascular Disorder	Arterial calcification, generalized, of infancy, 1	Autosomal recessive
EP300	Syndromic Disorder	Rubinstein-Taybi syndrome 2	Autosomal dominant
EPAS1	Hematologic Disorder	Erythrocytosis, familial, 4	Autosomal dominant
EPCAM	Hereditary Cancer	Colorectal cancer, hereditary nonpolyposis, type 8	Autosomal dominant
EPG5	Syndromic Disorder	Vici syndrome	Autosomal recessive
EPHA2	Vision Disorder	Cataract 6, multiple types	Autosomal dominant
EPHB4	Cardiovascular Disorder	Hydrops fetalis, nonimmune, and/or atrial septal defect	Autosomal dominant
EPM2A	Neurologic Disorder	Epilepsy, progressive myoclonic 2A (Lafora)	Autosomal recessive
ERCC2	Skin Disorder	Trichothiodystrophy 1, photosensitive; Xeroderma pigmentosum, group D	Autosomal recessive
ERCC3	Skin Disorder	Xeroderma pigmentosum, group B	Autosomal recessive
ERCC4	Skin Disorder	Xeroderma pigmentosum, group F	Autosomal recessive
ERCC5	Skin Disorder	Xeroderma pigmentosum, group G; Xeroderma pigmentosum, group G/Cockayne syndrome	Autosomal recessive
ERCC6	Syndromic Disorder	Cerebrooculofacioskeletal syndrome 1; Cockayne syndrome, type B; De Sanctis-Cacchione syndrome	Autosomal recessive
ERCC8	Syndromic Disorder	Cockayne syndrome, type A	Autosomal recessive
ERF	Musculoskeletal Disorder	Chitayat syndrome; Craniosynostosis 4	Autosomal dominant
ERLIN1	Neurologic Disorder	Spastic paraplegia 62	Autosomal recessive
ERLIN2	Neurologic Disorder	Spastic paraplegia	Autosomal recessive
ESCO2	Syndromic Disorder	Roberts syndrome	Autosomal recessive
ESRRB	Hearing Disorder	Deafness, autosomal recessive 35	Autosomal recessive
ETFA	Metabolic Disorder	Glutaric acidemia IIA	Autosomal recessive
ETFB	Metabolic Disorder	Glutaric acidemia IIB	Autosomal recessive
ETFDH	Metabolic Disorder	Glutaric acidemia IIC	Autosomal recessive
ETHE1	Metabolic Disorder	Ethylmalonic encephalopathy	Autosomal recessive
ETV6	Hereditary Cancer	Thrombocytopenia 5	Autosomal dominant
EVC	Musculoskeletal Disorder	Ellis-van Creveld syndrome	Autosomal recessive
EVC2	Musculoskeletal Disorder	Ellis-van Creveld syndrome	Autosomal recessive
EXOSC3	Neurologic Disorder	Pontocerebellar hypoplasia, type 1B	Autosomal recessive
EXPH5	Skin Disorder	Epidermolysis bullosa	Autosomal recessive
EXT1	Musculoskeletal Disorder	Exostoses, multiple, type 1	Autosomal dominant
EXT2	Musculoskeletal Disorder	Exostoses, multiple, type 2	Autosomal dominant
EYA1	Syndromic Disorder	Branchiootic syndrome 1; Branchiootorenal syndrome 1, with or without cataracts	Autosomal dominant
EYA4	Hearing Disorder	Hearing loss	Autosomal dominant
EYS	Vision Disorder	Retinitis pigmentosa 25	Autosomal recessive
EZH2	Syndromic Disorder	Weaver syndrome	Autosomal dominant
F10	Hematologic Disorder	Factor X deficiency	Autosomal recessive
F11	Hematologic Disorder	Hereditary factor XI deficiency disease	Autosomal dominant; Autosomal recessive
F12	Hematologic Disorder	Angioedema, hereditary, type III	Autosomal dominant
F12	Hematologic Disorder	Factor XII deficiency	Autosomal recessive
F13A1	Hematologic Disorder	Factor XIIIA deficiency	Autosomal recessive
F13B	Hematologic Disorder	Factor XIIIB deficiency	Autosomal recessive
F2	Hematologic Disorder	Factor II deficiency	Autosomal recessive
F2	Hematologic Disorder	Thrombophilia due to thrombin defect	Autosomal dominant
F5	Hematologic Disorder	Factor V deficiency	Autosomal recessive
F5	Hematologic Disorder	Thrombophilia, susceptibility to, due to factor V Leiden	Autosomal dominant
F7	Hematologic Disorder	Factor VII deficiency	Autosomal recessive
F8	Hematologic Disorder	Hemophilia A	X-linked recessive
F9	Hematologic Disorder	Hemophilia B	X-linked recessive
FA2H	Neurodegenerative Disorder	Fatty acid hydroxylase associated neurodegeneration	Autosomal recessive
FAH	Metabolic Disorder	Tyrosinemia, type I	Autosomal recessive
FAM111A	Syndromic Disorder	Gracile bone dysplasia; Kenny-Caffey syndrome, type 2	Autosomal dominant
FAM161A	Vision Disorder	Retinitis pigmentosa 28	Autosomal recessive
FAM20A	Dental Disorder	Amelogenesis imperfecta, type IG (enamel-renal syndrome)	Autosomal recessive
FAM20C	Musculoskeletal Disorder	Raine syndrome	Autosomal recessive
FAM83H	Dental Disorder	Amelogenesis imperfecta, type III	Autosomal dominant
FAN1	Kidney Disorder	Interstitial nephritis, karyomegalic	Autosomal recessive
FANCA	Hereditary Cancer	Fanconi anemia, complementation group A	Autosomal recessive
FANCB	Hereditary Cancer	Fanconi anemia, complementation group B	X-linked
FANCC	Hereditary Cancer	Fanconi anemia, complementation group C	Autosomal recessive
FANCD2	Hereditary Cancer	Fanconi anemia, complementation group D2	Autosomal recessive
FANCE	Hereditary Cancer	Fanconi anemia, complementation group E	Autosomal recessive
FANCF	Hereditary Cancer	Fanconi anemia, complementation group F	Autosomal recessive
FANCG	Hereditary Cancer	Fanconi anemia, complementation group G	Autosomal recessive
FANCI	Hereditary Cancer	Fanconi anemia, complementation group I	Autosomal recessive
FANCL	Hereditary Cancer	Fanconi anemia, complementation group L	Autosomal recessive
FANCM	Hereditary Cancer	Breast cancer susceptibility	Autosomal dominant
FARS2	Metabolic Disorder	Combined oxidative phosphorylation deficiency 14	Autosomal recessive
FAS	Immunological Disorder	Autoimmune lymphoproliferative syndrome, type IA	Autosomal dominant
FAT4	Syndromic Disorder	Hennekam lymphangiectasia-lymphedema syndrome 2; Van Maldergem syndrome 2	Autosomal recessive
FBLN5	Skin Disorder	Cutis laxa	Autosomal recessive
FBN1	Syndromic Disorder	Marfan syndrome	Autosomal dominant
FBN2	Syndromic Disorder	Contractural arachnodactyly, congenital	Autosomal dominant
FBP1	Metabolic Disorder	Fructose-1,6-bisphosphatase deficiency	Autosomal recessive
FBXL4	Syndromic Disorder	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	Autosomal recessive
FBXO7	Neurodegenerative Disorder	Parkinson disease 15, autosomal recessive	Autosomal recessive
FCGR3A	Immunological Disorder	Immunodeficiency 20	Autosomal recessive
FECH	Syndromic Disorder	Erythropoietic protoporphyria	Autosomal recessive
FERMT1	Skin Disorder	Kindler syndrome	Autosomal recessive
FERMT3	Immunological Disorder	Leukocyte adhesion deficiency, type III	Autosomal recessive
FGA	Hematologic Disorder	Afibrinogenemia, congenital	Autosomal recessive
FGB	Hematologic Disorder	Afibrinogenemia, congenital	Autosomal recessive
FGD1	Syndromic Disorder	Intellectual developmental disorder, X-linked syndromic 16	X-linked recessive
FGD4	Neurologic Disorder	Charcot-Marie-Tooth disease, type 4H	Autosomal recessive
FGF10	Syndromic Disorder	Aplasia of lacrimal and salivary glands; LADD syndrome	Autosomal dominant
FGF12	Syndromic Disorder	Epileptic encephalopathy, early infantile, 47	Autosomal dominant
FGF14	Neurologic Disorder	Spinocerebellar ataxia 27	Autosomal dominant
FGF23	Metabolic Disorder	Hypophosphatemic rickets, autosomal dominant	Autosomal dominant
FGF23	Metabolic Disorder	Tumoral calcinosis, hyperphosphatemic, familial	Autosomal recessive
FGF3	Syndromic Disorder	Deafness, congenital with inner ear agenesis, microtia, and microdontia	Autosomal recessive
FGFR1	Syndromic Disorder	Hartsfield syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia; Pfeiffer syndrome	Autosomal dominant
FGFR2	Syndromic Disorder	Craniosynostosis syndrome; Crouzon syndrome; Pfeiffer syndrome	Autosomal dominant
FGFR3	Musculoskeletal Disorder	Craniosynostosis syndrome	Autosomal dominant
FGG	Hematologic Disorder	Afibrinogenemia, congenital; Hypofibrinogenemia, congenital	Autosomal recessive
FH	Metabolic Disorder	Fumarase deficiency	Autosomal recessive
FH	Hereditary Cancer	Leiomyomatosis and renal cell cancer	Autosomal dominant
FHL1	Syndromic Disorder	Emery-Dreifuss muscular dystrophy 6, X-linked; Myopathy, X-linked, with postural muscle atrophy	X-linked recessive
FIG4	Neurologic Disorder	Charcot-Marie-Tooth disease, type 4J	Autosomal recessive
FKBP10	Musculoskeletal Disorder	Bruck syndrome 1; Osteogenesis imperfecta, type XI	Autosomal recessive
FKBP14	Syndromic Disorder	Ehlers-Danlos syndrome kyphoscoliotic type	Autosomal recessive
FKRP	Musculoskeletal Disorder	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5; Muscular dystrophy- dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5; Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 5	Autosomal recessive
FKTN	Syndromic Disorder	Cardiomyopathy, dilated, 1X; Muscular dystrophy- dystroglycanopathy (congenital with brain and eye anomalies), type A, 4	Autosomal recessive
FLAD1	Metabolic Disorder	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	Autosomal recessive
FLCN	Hereditary Cancer	Birt-Hogg-Dube syndrome	Autosomal dominant
FLG	Skin Disorder	Ichthyosis vulgaris	Autosomal recessive
FLNA	Neurologic Disorder	Intestinal pseudoobstruction, neuronal	X-linked recessive
FLNB	Syndromic Disorder	Boomerang dysplasia; Larsen syndrome	Autosomal dominant
FLNC	Cardiovascular Disorder	Cardiomyopathy, familial hypertrophic, 26; Cardiomyopathy, familial restrictive 5; Myopathy, distal, 4; Myopathy, myofibrillar, 5	Autosomal dominant
FLT4	Syndromic Disorder	Congenital heart defects, multiple types, 3; Lymphedema, hereditary, IA	Autosomal dominant
FLVCR1	Neurologic Disorder	Ataxia, posterior column, with retinitis pigmentosa	Autosomal recessive
FLVCR2	Neurologic Disorder	Proliferative vasculopathy and hydraencephaly- hydrocephaly syndrome	Autosomal recessive
FMN2	Neurologic Disorder	Intellectual functioning disability	Autosomal recessive
FMO3	Metabolic Disorder	Trimethylaminuria	Autosomal recessive
FOLR1	Metabolic Disorder	Neurodegeneration due to cerebral folate transport deficiency	Autosomal recessive
FOXC1	Vision Disorder	Anterior segment dysgenesis 3, multiple subtypes; Axenfeld- Rieger syndrome, type 3	Autosomal dominant
FOXE3	Cardiovascular Disorder	Anterior segment dysgenesis 2, multiple subtypes; Aortic aneurysm, familial thoracic 11, susceptibility to	Autosomal dominant
FOXF1	Respiratory Disorder	Alveolar capillary dysplasia with misalignment of pulmonary veins	Autosomal dominant
FOXG1	Syndromic Disorder	Rett syndrome, congenital variant	Autosomal dominant
FOXN1	Immunological Disorder	T-cell immunodeficiency, congenital alopecia, and nail dystrophy	Autosomal recessive
FOXP1	Neurologic Disorder	Intellectual developmental disorder with language impairment with or without autistic features	Autosomal dominant
FOXP3	Immunological Disorder	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked	X-linked recessive
FOXRED1	Syndromic Disorder	Leigh syndrome due to mitochondrial complex I deficiency; Mitochondrial complex I deficiency	Autosomal recessive
FRAS1	Syndromic Disorder	Fraser syndrome	Autosomal recessive
FREM1	Syndromic Disorder	Bifid nose with or without anorectal and renal anomalies; Manitoba oculotrichoanal syndrome	Autosomal recessive
FREM2	Syndromic Disorder	Fraser syndrome	Autosomal recessive
FRMD7	Vision Disorder	Nystagmus 1, congenital, X-linked	X-linked
FSHB	Endocrine Disorder	Hypogonadotropic hypogonadism 24 without anosmia	Autosomal recessive
FTCD	Metabolic Disorder	Glutamate formiminotransferase deficiency	Autosomal recessive
FTL	Neurodegenerative Disorder	Neurodegeneration with brain iron accumulation 3	Autosomal dominant
FTSJ1	Neurologic Disorder	Intellectual functioning disability	X-linked recessive
FUCA1	Metabolic Disorder	Fucosidosis	Autosomal recessive
FUS	Neurologic Disorder	Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia; Tremor, hereditary essential, 4	Autosomal dominant
FXN	Syndromic Disorder	Friedreich ataxia; Friedreich ataxia with retained reflexes	Autosomal recessive
FYCO1	Vision Disorder	Cataract	Autosomal recessive
FZD4	Vision Disorder	Exudative vitreoretinopathy 1	Autosomal dominant
G6PC1	Metabolic Disorder	Glycogen storage disease Ia	Autosomal recessive
G6PC3	Immunological Disorder	Congenital neutropenia; Dursun syndrome	Autosomal recessive
G6PD	Hematologic Disorder	Hemolytic anemia due to G6PD deficiency	X-linked dominant
GAA	Metabolic Disorder	Glycogen storage disease II	Autosomal recessive
GABRA1	Neurologic Disorder	Epileptic encephalopathy, early infantile, 19	Autosomal dominant
GABRB3	Neurologic Disorder	Epilepsy, childhood absence, susceptibility to, 5; Epileptic encephalopathy, early infantile, 43	Autosomal dominant
GABRG2	Neurologic Disorder	Epilepsy, childhood absence, susceptibility to, 2; Epilepsy, generalized, with febrile seizures plus, type 3; Febrile seizures, familial, 8	Autosomal dominant
GALC	Neurologic Disorder	Krabbe disease	Autosomal recessive
GALE	Metabolic Disorder	Galactose epimerase deficiency	Autosomal recessive
GALK1	Metabolic Disorder	Galactokinase deficiency with cataracts	Autosomal recessive
GALNS	Metabolic Disorder	Mucopolysaccharidosis IVA	Autosomal recessive
GALNT3	Metabolic Disorder	Tumoral calcinosis, hyperphosphatemic, familial	Autosomal recessive
GALT	Metabolic Disorder	Galactosemia	Autosomal recessive
GAMT	Neurologic Disorder	Cerebral creatine deficiency syndrome 2	Autosomal recessive
GAN	Neurodegenerative Disorder	Giant axonal neuropathy-1	Autosomal recessive
GANAB	Kidney Disorder	Polycyctic kidney disease 3	Autosomal dominant
GARS1	Neurologic Disorder	Charcot-Marie-Tooth disease, type 2D; Neuropathy, distal hereditary motor, type VA	Autosomal dominant
GAS8	Respiratory Disorder	Ciliary dyskinesia, primary, 33	Autosomal recessive
GATA1	Hematologic Disorder	Anemia, X-linked, with/without neutropenia and/or platelet abnormalities; Thrombocytopenia with beta-thalassemia, X-linked; Thrombocytopenia, X-linked, with or without dyserythropoietic anemia	X-linked recessive
GATA2	Hereditary Cancer	Emberger syndrome	Autosomal dominant
GATA3	Syndromic Disorder	Hypoparathyroidism, sensorineural deafness, and renal dysplasia	Autosomal dominant
GATA4	Cardiovascular Disorder	Atrial septal defect 2; Congenital heart disease; Ventricular septal defect 1	Autosomal dominant
GATA5	Cardiovascular Disorder	Bicuspid aortic valve; Familial atrial fibrillation; Tetralogy of Fallot	Autosomal dominant
GATA6	Syndromic Disorder	Atrial septal defect 9; Atrioventricular septal defect 5; Pancreatic agenesis and congenital heart defects; Tetralogy of Fallot	Autosomal dominant
GATAD2B	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
GATM	Neurologic Disorder	Cerebral creatine deficiency syndrome 3	Autosomal recessive
GBA1	Metabolic Disorder	Gaucher's disease	Autosomal recessive
GBA2	Neurologic Disorder	Spastic paraplegia	Autosomal recessive
GBE1	Metabolic Disorder	Glycogen storage disease IV	Autosomal recessive
GCDH	Metabolic Disorder	Glutaricaciduria, type I	Autosomal recessive
GCH1	Neurologic Disorder	Dystonia, DOPA-responsive, with or without hyperphenylalaninemia	Autosomal dominant
GCK	Endocrine Disorder	Maturity onset diabetes of the young, type 2	Autosomal dominant
GCM2	Endocrine Disorder	Familial isolated hypoparathyroidism	Autosomal dominant
GDAP1	Neurologic Disorder	Charcot-Marie-Tooth disease, axonal, type 2K; Charcot- Marie-Tooth disease, recessive intermediate, A; Charcot- Marie-Tooth disease, type 4A	Autosomal recessive
GDF1	Cardiovascular Disorder	Congenital heart defects, multiple types, 6; Ivemark syndrome	Autosomal dominant; Autosomal recessive
GDF2	Syndromic Disorder	Telangiectasia, hereditary hemorrhagic, type 5	Autosomal dominant
GDI1	Neurologic Disorder	Intellectual functioning disability	X-linked
GFAP	Neurologic Disorder	Alexander disease	Autosomal dominant
GFM1	Metabolic Disorder	Combined oxidative phosphorylation deficiency 1	Autosomal recessive
GFPT1	Musculoskeletal Disorder	Myasthenia, congenital, 12, with tubular aggregates	Autosomal recessive
GGCX	Hematologic Disorder	Vitamin K-dependent clotting factors, combined deficiency of, 1	Autosomal recessive
GH1	Endocrine Disorder	Growth hormone deficiency, isolated, type IA; Growth hormone deficiency, isolated, type IB; Kowarski syndrome	Autosomal recessive
GHR	Endocrine Disorder	Growth hormone insensitivity, partial	Autosomal dominant
GHR	Endocrine Disorder	Laron dwarfism	Autosomal recessive
GHRHR	Endocrine Disorder	Growth hormone deficiency, isolated, type IB	Autosomal recessive
GIPC3	Hearing Disorder	Hearing loss	Autosomal recessive
GJA1	Syndromic Disorder	Atrioventricular septal defect 3; Oculodentodigital dysplasia	Autosomal dominant
GJA3	Vision Disorder	Cataract 14, multiple types	Autosomal dominant
GJB1	Neurologic Disorder	Charcot-Marie-Tooth neuropathy, X-linked dominant, 1	X-linked dominant
GJB2	Hearing Disorder	Sensorineural hearing loss	Autosomal dominant
GJB2	Hearing Disorder	Sensorineural hearing loss	Autosomal recessive
GJB3	Hearing Disorder	Deafness, autosomal dominant, with peripheral neuropathy	Autosomal dominant
GJB6	Skin Disorder	Ectodermal dysplasia 2, Clouston type	Autosomal dominant
GJC2	Neurologic Disorder	Leukodystrophy, hypomyelinating, 2; Spastic paraplegia	Autosomal recessive
GK	Metabolic Disorder	Glycerol kinase deficiency	X-linked recessive
GLA	Syndromic Disorder	Fabry disease	X-linked
GLB1	Metabolic Disorder	GM1-gangliosidosis, type I; GM1-gangliosidosis, type II	Autosomal recessive
GLDC	Neurologic Disorder	Glycine encephalopathy	Autosomal recessive
GLE1	Syndromic Disorder	Lethal congenital contracture syndrome 1	Autosomal recessive
GLI3	Syndromic Disorder	Greig cephalopolysyndactyly syndrome; Pallister-Hall syndrome	Autosomal dominant
GLMN	Cardiovascular Disorder	Glomuvenous malformations	Autosomal dominant
GLRA1	Neurologic Disorder	Hereditary hyperekplexia	Autosomal dominant
GLRB	Neurologic Disorder	Hyperekplexia 2, autosomal recessive	Autosomal recessive
GLUD1	Endocrine Disorder	Hyperinsulinism-hyperammonemia syndrome	Autosomal dominant
GLUL	Syndromic Disorder	Glutamine deficiency, congenital	Autosomal recessive
GM2A	Neurologic Disorder	GM2-gangliosidosis, AB variant	Autosomal recessive
GMPPB	Musculoskeletal Disorder	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 14	Autosomal recessive
GNA11	Metabolic Disorder	Hypocalcemia, autosomal dominant 2; Hypocalciuric hypercalcemia, type II	Autosomal dominant
GNAO1	Neurologic Disorder	Epileptic encephalopathy, early infantile, 17	Autosomal dominant
GNAS	Endocrine Disorder	Pseudohypoparathyroidism; Pseudopseudohypoparathyroidism	Autosomal dominant
GNAT1	Vision Disorder	Night blindness, congenital stationary, autosomal dominant 3	Autosomal dominant
GNAT2	Vision Disorder	Achromatopsia 4	Autosomal recessive
GNB1	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
GNE	Musculoskeletal Disorder	Nonaka myopathy	Autosomal recessive
GNPAT	Syndromic Disorder	Rhizomelic chondrodysplasia punctata, type 2	Autosomal recessive
GNPTAB	Syndromic Disorder	Mucolipidosis II alpha/beta; Mucolipidosis III alpha/beta	Autosomal recessive
GNPTG	Musculoskeletal Disorder	Mucolipidosis III gamma	Autosomal recessive
GNRHR	Endocrine Disorder	Hypogonadotropic hypogonadism 7 without anosmia	Autosomal recessive
GNS	Syndromic Disorder	Mucopolysaccharidosis type IIID	Autosomal recessive
GORAB	Musculoskeletal Disorder	Geroderma osteodysplasticum	Autosomal recessive
GOSR2	Neurologic Disorder	Epilepsy, progressive myoclonic 6	Autosomal recessive
GP1BA	Hematologic Disorder	Bernard-Soulier syndrome, type A1 (recessive)	Autosomal recessive
GP9	Hematologic Disorder	Bernard-Soulier syndrome, type C	Autosomal recessive
GPC3	Hereditary Cancer	Simpson-Golabi-Behmel syndrome, type 1	X-linked recessive
GPC6	Syndromic Disorder	Omodysplasia 1	Autosomal recessive
GPD1	Syndromic Disorder	Hypertriglyceridemia, transient infantile	Autosomal recessive
GPD1L	Cardiovascular Disorder	Brugada syndrome 2	Autosomal dominant
GPIHBP1	Cardiovascular Disorder	Hyperlipoproteinemia, type 1D	Autosomal recessive
GPR143	Vision Disorder	Ocular albinism, type I, Nettleship-Falls type	X-linked recessive
GPR179	Vision Disorder	Congenital stationary night blindness	Autosomal recessive
GPSM2	Syndromic Disorder	Chudley-McCullough syndrome	Autosomal recessive
GRHL2	Hearing Disorder	Deafness, autosomal dominant 28	Autosomal dominant
GRHL3	Syndromic Disorder	Van der Woude syndrome 2	Autosomal dominant
GRHPR	Kidney Disorder	Hyperoxaluria, primary, type II	Autosomal recessive
GRIA3	Neurologic Disorder	Intellectual functioning disability	X-linked recessive
GRIK2	Neurologic Disorder	Intellectual functioning disability	Autosomal recessive
GRIN2B	Neurologic Disorder	Epileptic encephalopathy, early infantile, 27; Intellectual functioning disability	Autosomal dominant
GRIP1	Syndromic Disorder	Fraser syndrome	Autosomal recessive
GRM6	Vision Disorder	Congenital stationary night blindness	Autosomal recessive
GRN	Neurodegenerative Disorder	Aphasia, primary progressive; Frontotemporal lobar degeneration with ubiquitin-positive inclusions	Autosomal dominant
GRXCR1	Hearing Disorder	Deafness, autosomal recessive 25	Autosomal recessive
GSDME	Hearing Disorder	Deafness, autosomal dominant 5	Autosomal dominant
GSN	Syndromic Disorder	Amyloidosis, Finnish type	Autosomal dominant
GSS	Hematologic Disorder	Glutathione synthetase deficiency	Autosomal recessive
GTF2H5	Syndromic Disorder	Trichothiodystrophy 3, photosensitive	Autosomal recessive
GUCA1A	Vision Disorder	Cone dystrophy-3; Cone-rod dystrophy 14	Autosomal dominant
GUCY1A1	Neurologic Disorder	Moyamoya 6 with achalasia	Autosomal recessive
GUCY2D	Vision Disorder	Leber congenital amaurosis 1	Autosomal recessive
GUSB	Syndromic Disorder	Mucopolysaccharidosis VII	Autosomal recessive
GYG1	Metabolic Disorder	Glycogen storage disease XV; Polyglucosan body myopathy 2	Autosomal recessive
GYS1	Metabolic Disorder	Glycogen storage disease 0, muscle	Autosomal recessive
GYS2	Metabolic Disorder	Glycogen storage disease 0, liver	Autosomal recessive
HACE1	Syndromic Disorder	Spastic paraplegia and psychomotor retardation with or without seizures	Autosomal recessive
HADH	Metabolic Disorder	3-hydroxyacyl-CoA dehydrogenase deficiency; Hyperinsulinemic hypoglycemia, familial, 4	Autosomal recessive
HADHA	Metabolic Disorder	LCHAD deficiency; Trifunctional protein deficiency	Autosomal recessive
HADHB	Metabolic Disorder	Trifunctional protein deficiency	Autosomal recessive
HAL	Metabolic Disorder	Histidinemia	Autosomal recessive
HAMP	Metabolic Disorder	Hemochromatosis, type 2B	Autosomal recessive
HAX1	Immunological Disorder	Congenital neutropenia	Autosomal recessive
HBA1	Hematologic Disorder	Thalassemias, alpha-	Autosomal recessive
HBA2	Hematologic Disorder	Thalassemia, alpha-	Autosomal recessive
HBB	Hematologic Disorder	Sickle cell anemia; beta Thalassemia	Autosomal recessive
HBD	Hematologic Disorder	Thalassemia, delta-	Autosomal recessive
HCN4	Cardiovascular Disorder	Sick sinus syndrome 2	Autosomal dominant
HDAC8	Syndromic Disorder	Cornelia de Lange syndrome 5	X-linked dominant
HELLS	Syndromic Disorder	Immunodeficiency-centromeric instability-facial anomalies syndrome 4	Autosomal recessive
HERC1	Neurologic Disorder	Macrocephaly, dysmorphic facies, and psychomotor retardation	Autosomal recessive
HESX1	Endocrine Disorder	Pituitary hormone deficiency, combined, 5; Septooptic dysplasia	Autosomal dominant
HEXA	Metabolic Disorder	Tay-Sachs disease	Autosomal recessive
HEXB	Neurologic Disorder	Sandhoff disease, infantile, juvenile, and adult forms	Autosomal recessive
HFE	Metabolic Disorder	Hemochromatosis	Autosomal recessive
HFM1	Endocrine Disorder	Premature ovarian failure 9	Autosomal recessive
HGD	Metabolic Disorder	Alkaptonuria	Autosomal recessive
HGSNAT	Syndromic Disorder	Mucopolysaccharidosis type IIIC (Sanfilippo C)	Autosomal recessive
HIBCH	Neurologic Disorder	3-hydroxyisobutryl-CoA hydrolase deficiency	Autosomal recessive
HINT1	Neurologic Disorder	Neuromyotonia and axonal neuropathy, autosomal recessive	Autosomal recessive
HIVEP2	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
HJV	Metabolic Disorder	Hemochromatosis, type 2A	Autosomal recessive
HK1	Hematologic Disorder	Hemolytic anemia due to hexokinase deficiency	Autosomal recessive
HLCS	Metabolic Disorder	Holocarboxylase synthetase deficiency	Autosomal recessive
HMBS	Hematologic Disorder	Porphyria, acute intermittent	Autosomal dominant
HMGCL	Metabolic Disorder	HMG-CoA lyase deficiency	Autosomal recessive
HMGCS2	Metabolic Disorder	HMG-CoA synthase-2 deficiency	Autosomal recessive
HNF1A	Endocrine Disorder	MODY, type III	Autosomal dominant
HNF1B	Endocrine Disorder	Diabetes mellitus, noninsulin-dependent; Renal cysts and diabetes syndrome	Autosomal dominant
HNF4A	Endocrine Disorder	Type 1 diabetes mellitus maturity onset	Autosomal dominant
HNRNPH2	Syndromic Disorder	Intellectual developmental disorder, X-linked syndromic, Bain type	X-linked dominant
HNRNPK	Neurologic Disorder	Au-Kline syndrome	Autosomal dominant
HNRNPU	Neurologic Disorder	Epileptic encephalopathy, early infantile, 54	Autosomal dominant
HOGA1	Metabolic Disorder	Hyperoxaluria, primary, type III	Autosomal recessive
HOXA1	Syndromic Disorder	Athabaskan brainstem dysgenesis syndrome; Bosley-Salih- Alorainy syndrome	Autosomal recessive
HOXB13	Hereditary Cancer	Prostate cancer	Autosomal dominant
HOXC13	Skin Disorder	Ectodermal dysplasia 9, hair/nail type	Autosomal recessive
HPD	Metabolic Disorder	Tyrosinemia, type III	Autosomal recessive
HPGD	Musculoskeletal Disorder	Cranioosteoarthropathy; Digital clubbing, isolated congenital; Pachydermoperiostosis syndrome	Autosomal recessive
HPRT1	Syndromic Disorder	Lesch-Nyhan syndrome	X-linked recessive
HPS1	Syndromic Disorder	Hermansky-Pudlak syndrome 1	Autosomal recessive
HPS3	Syndromic Disorder	Hermansky-Pudlak syndrome 3	Autosomal recessive
HPS4	Syndromic Disorder	Hermansky-Pudlak syndrome 4	Autosomal recessive
HPS5	Syndromic Disorder	Hermansky-Pudlak syndrome 5	Autosomal recessive
HPS6	Syndromic Disorder	Hermansky-Pudlak syndrome 6	Autosomal recessive
HPSE2	Syndromic Disorder	Urofacial syndrome 1	Autosomal recessive
HR	Skin Disorder	Atrichia with papular lesions	Autosomal recessive
HRAS	Syndromic Disorder	Congenital myopathy with excess of muscle spindles; Costello syndrome	Autosomal dominant
HSD17B3	Endocrine Disorder	Pseudohermaphroditism, male, with gynecomastia	Autosomal recessive
HSD17B4	Metabolic Disorder	D-bifunctional protein deficiency	Autosomal recessive
HSD3B2	Metabolic Disorder	Adrenal hyperplasia, congenital, due to 3-beta- hydroxysteroid dehydrogenase 2 deficiency	Autosomal recessive
HSD3B7	Liver Disorder	Bile acid synthesis defect, congenital, 1	Autosomal recessive
HSPB1	Neurologic Disorder	Charcot-Marie-Tooth disease, axonal, type 2F; Neuropathy, distal hereditary motor, type IIB	Autosomal dominant
HSPB8	Neurologic Disorder	Charcot-Marie-Tooth disease, axonal, type 2L; Neuropathy, distal hereditary motor, type IIA	Autosomal dominant
HSPG2	Syndromic Disorder	Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome, type 1	Autosomal recessive
HTRA2	Metabolic Disorder	3-methylglutaconic aciduria, type VIII	Autosomal recessive
HUWE1	Syndromic Disorder	Intellectual developmental disorder, X-linked syndromic, Turner type	X-linked
HYAL1	Metabolic Disorder	Mucopolysaccharidosis type IX	Autosomal recessive
HYCC1	Neurologic Disorder	Leukodystrophy, hypomyelinating, 5	Autosomal recessive
HYLS1	Syndromic Disorder	Hydrolethalus syndrome	Autosomal recessive
ICOS	Immunological Disorder	Immunodeficiency, common variable, 1	Autosomal recessive
IDH2	Neurologic Disorder	D-2-hydroxyglutaric aciduria 2	Autosomal dominant
IDS	Syndromic Disorder	Mucopolysaccharidosis II	X-linked recessive
IDUA	Syndromic Disorder	Mucopolysaccharidosis Ih	Autosomal recessive
IER3IP1	Syndromic Disorder	Microcephaly, epilepsy, and diabetes syndrome	Autosomal recessive
IFIH1	Immunological Disorder	Aicardi-Goutieres syndrome 7; Singleton-Merten syndrome 1	Autosomal dominant
IFNGR1	Immunological Disorder	Immunodeficiency disorder	Autosomal dominant
IFNGR2	Immunological Disorder	Immunodeficiency 28, mycobacteriosis	Autosomal recessive
IFT140	Syndromic Disorder	Retinitis pigmentosa; Short-rib thoracic dysplasia 9 with or without polydactyly	Autosomal recessive
IFT43	Syndromic Disorder	Short-rib thoracic dysplasia 18 with polydactyly	Autosomal recessive
IFT80	Syndromic Disorder	Short-rib thoracic dysplasia 2 with or without polydactyly	Autosomal recessive
IGHMBP2	Neurologic Disorder	Charcot-Marie-Tooth disease, axonal, type 2S; Neuronopathy, distal hereditary motor, type VI	Autosomal recessive
IGSF1	Endocrine Disorder	Hypothyroidism, central, and testicular enlargement	X-linked recessive
IKBKB	Immunological Disorder	Immunodeficiency 15	Autosomal recessive
IKBKG	Skin Disorder	Incontinentia pigmenti	X-linked dominant
IKZF1	Immunological Disorder	Immunodeficiency, common variable, 13	Autosomal dominant
IL10RA	Gastrointestinal Disorder	Inflammatory bowel disease	Autosomal recessive
IL12B	Immunological Disorder	Immunodeficiency 29, mycobacteriosis	Autosomal recessive
IL12RB1	Immunological Disorder	Immunodeficiency 30	Autosomal recessive
IL17RA	Immunological Disorder	Immunodeficiency 51	Autosomal recessive
IL17RC	Immunological Disorder	Candidiasis, familial, 9	Autosomal recessive
IL1RAPL1	Neurologic Disorder	Intellectual functioning disability	X-linked recessive
IL1RN	Immunological Disorder	Interleukin 1 receptor antagonist deficiency	Autosomal recessive
IL21R	Immunological Disorder	Immunodeficiency, primary, autosomal recessive, IL21R- related	Autosomal recessive
IL2RA	Immunological Disorder	Immunodeficiency 41 with lymphoproliferation and autoimmunity	Autosomal recessive
IL2RG	Immunological Disorder	Combined immunodeficiency disease; Severe combined immunodeficiency disease	X-linked recessive
IL36RN	Skin Disorder	Psoriasis 14, pustular	Autosomal recessive
IL7R	Immunological Disorder	Severe combined immunodeficiency disease	Autosomal recessive
ILDR1	Hearing Disorder	Sensorineural hearing loss	Autosomal recessive
IMPDH1	Vision Disorder	Leber congenital amaurosis 11; Retinitis pigmentosa 10	Autosomal dominant
IMPG1	Vision Disorder	Macular dystrophy, vitelliform, 4	Autosomal dominant
IMPG2	Vision Disorder	Retinitis pigmentosa 56	Autosomal recessive
INF2	Kidney Disorder	Charcot-Marie-Tooth disease, dominant intermediate E; Glomerulosclerosis, focal segmental, 5	Autosomal dominant
INPP5E	Syndromic Disorder	Intellectual deficit, truncal obesity, retinal dystrophy, and micropenis; Joubert syndrome 1	Autosomal recessive
INPPL1	Musculoskeletal Disorder	Opsismodysplasia	Autosomal recessive
INS	Endocrine Disorder	Diabetes mellitus, permanent neonatal; Maturity-onset diabetes of the young, type 10	Autosomal dominant
INSR	Syndromic Disorder	Leprechaunism syndrome; Rabson-Mendenhall syndrome	Autosomal recessive
INVS	Kidney Disorder	Nephronophthisis 2, infantile	Autosomal recessive
IQCB1	Syndromic Disorder	Senior-Loken syndrome 5	Autosomal recessive
IQSEC2	Neurologic Disorder	Intellectual functioning disability	X-linked dominant
IRAK4	Immunological Disorder	IRAK4 deficiency; Invasive pneumococcal disease, recurrent isolated, 1	Autosomal recessive
IRF2BPL	Neurodegenerative Disorder	Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures	Autosomal dominant
IRF6	Musculoskeletal Disorder	Popliteal pterygium syndrome 1; van der Woude syndrome	Autosomal dominant
IRF8	Immunological Disorder	Immunodeficiency 32A, mycobacteriosis, autosomal dominant	Autosomal dominant
ISCA2	Metabolic Disorder	Multiple mitochondrial dysfunctions syndrome 4	Autosomal recessive
ISG15	Immunological Disorder	Immunodeficiency 38	Autosomal recessive
ITCH	Syndromic Disorder	Autoimmune disease, multisystem, with facial dysmorphism	Autosomal recessive
ITGA2B	Hematologic Disorder	Glanzmann thrombasthenia	Autosomal recessive
ITGA6	Syndromic Disorder	Epidermolysis bullosa, junctional, with pyloric stenosis	Autosomal recessive
ITGA7	Syndromic Disorder	Muscular dystrophy, congenital, due to ITGA7 deficiency	Autosomal recessive
ITGB2	Immunological Disorder	Leukocyte adhesion deficiency	Autosomal recessive
ITGB3	Hematologic Disorder	Glanzmann thrombasthenia	Autosomal recessive
ITGB4	Syndromic Disorder	Epidermolysis bullosa, junctional, non-Herlitz type; Epidermolysis bullosa, junctional, with pyloric atresia	Autosomal recessive
ITPR1	Neurologic Disorder	Gillespie syndrome; Spinocerebellar ataxia 15; Spinocerebellar ataxia 29, congenital nonprogressive	Autosomal dominant
IVD	Metabolic Disorder	Isovaleric acidemia	Autosomal recessive
IYD	Endocrine Disorder	Thyroid dyshormonogenesis 4	Autosomal recessive
JAG1	Syndromic Disorder	Alagille syndrome 1	Autosomal dominant
JAK3	Immunological Disorder	SCID, autosomal recessive, T-negative/B-positive type	Autosomal recessive
JPH2	Cardiovascular Disorder	Cardiomyopathy, hypertrophic, 17	Autosomal dominant
JUP	Syndromic Disorder	Naxos disease	Autosomal recessive
KANSL1	Syndromic Disorder	Koolen-De Vries syndrome	Autosomal dominant
KARS1	Hearing Disorder	Deafness, autosomal recessive 89	Autosomal recessive
KAT6A	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
KAT6B	Musculoskeletal Disorder	Genitopatellar syndrome	Autosomal dominant
KCNA1	Neurologic Disorder	Episodic ataxia/myokymia syndrome	Autosomal dominant
KCNB1	Neurologic Disorder	Epileptic encephalopathy, early infantile, 26	Autosomal dominant
KCNC3	Syndromic Disorder	Spinocerebellar ataxia 13	Autosomal dominant
KCND3	Syndromic Disorder	Brugada syndrome 9; Spinocerebellar ataxia 19	Autosomal dominant
KCNE1	Cardiovascular Disorder	Long QT syndrome 5	Autosomal dominant
KCNH2	Cardiovascular Disorder	Long QT syndrome 2	Autosomal dominant
KCNJ1	Kidney Disorder	Bartter syndrome, type 2	Autosomal recessive
KCNJ10	Syndromic Disorder	SESAME syndrome	Autosomal recessive
KCNJ11	Endocrine Disorder	Diabetes, permanent neonatal, with or without neurologic features	Autosomal dominant
KCNJ11	Endocrine Disorder	Hyperinsulinemic hypoglycemia, familial, 2	Autosomal recessive
KCNJ13	Vision Disorder	Leber congenital amaurosis 16	Autosomal recessive
KCNJ2	Cardiovascular Disorder	Atrial fibrillation, familial, 9; Short QT syndrome 3	Autosomal dominant
KCNJ5	Syndromic Disorder	Hyperaldosteronism, familial, type III; Long QT syndrome 13	Autosomal dominant
KCNK3	Cardiovascular Disorder	Pulmonary hypertension, primary, 4	Autosomal dominant
KCNQ1	Cardiovascular Disorder	Long QT syndrome 1	Autosomal dominant
KCNQ3	Neurologic Disorder	Seizures, benign neonatal, type 2	Autosomal dominant
KCNQ4	Hearing Disorder	Hearing loss	Autosomal dominant
KCNT1	Neurologic Disorder	Epilepsy, nocturnal frontal lobe, 5; Epileptic encephalopathy, early infantile, 14	Autosomal dominant
KCNV2	Vision Disorder	Retinal cone dystrophy 3B	Autosomal recessive
KCTD7	Neurologic Disorder	Epilepsy, progressive myoclonic 3, with or without intracellular inclusions	Autosomal recessive
KDM5C	Neurologic Disorder	Intellectual functioning disability	X-linked
KDM6A	Syndromic Disorder	Kabuki syndrome 2	X-linked dominant
KERA	Vision Disorder	Cornea plana	Autosomal recessive
KIAA0586	Syndromic Disorder	Joubert syndrome 23; Short-rib thoracic dysplasia 14 with polydactyly	Autosomal recessive
KIDINS220	Syndromic Disorder	Spastic paraplegia, intellectual disability, nystagmus, and obesity	Autosomal dominant
KIF11	Syndromic Disorder	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual deficit	Autosomal dominant
KIF1A	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
KIF1B	Syndromic Disorder	Pheochromocytoma	Autosomal dominant
KIF5A	Neurologic Disorder	Myoclonus, intractable, neonatal; Spastic paraplegia	Autosomal dominant
KIF5C	Syndromic Disorder	Cortical dysplasia, complex, with other brain malformations 2	Autosomal dominant
KIF7	Neurologic Disorder	Acrocallosal syndrome	Autosomal recessive
KIT	Hereditary Cancer	Gastrointestinal stromal tumor, familial	Autosomal dominant
KIT	Skin Disorder	Piebaldism	Autosomal dominant
KIZ	Vision Disorder	Retinitis pigmentosa	Autosomal recessive
KLHL3	Cardiovascular Disorder	Pseudohypoaldosteronism, type IID	Autosomal dominant
KLHL40	Neurologic Disorder	Nemaline myopathy	Autosomal recessive
KLHL7	Vision Disorder	Retinitis pigmentosa 42	Autosomal dominant
KLK4	Dental Disorder	Amelogenesis imperfecta, type IIA1	Autosomal recessive
KLKB1	Hematologic Disorder	Fletcher factor (prekallikrein) deficiency	Autosomal recessive
KMT2A	Syndromic Disorder	Wiedemann-Steiner syndrome	Autosomal dominant
KMT2B	Neurologic Disorder	Dystonia 28, childhood-onset	Autosomal dominant
KMT2D	Syndromic Disorder	Kabuki syndrome 1	Autosomal dominant
KRAS	Syndromic Disorder	Cardiofaciocutaneous syndrome 2; Noonan syndrome 3	Autosomal dominant
KRIT1	Syndromic Disorder	Cerebral cavernous malformations-1	Autosomal dominant
KRT1	Skin Disorder	Epidermolytic hyperkeratosis; Palmoplantar keratoderma	Autosomal dominant
KRT10	Skin Disorder	Epidermolytic hyperkeratosis; Ichthyosis with confetti	Autosomal dominant
KRT14	Skin Disorder	Dermatopathia pigmentosa reticularis; Epidermolysis bullosa simplex, Dowling-Meara type; Epidermolysis bullosa simplex, Koebner type; Epidermolysis bullosa simplex, Weber- Cockayne type; Naegeli-Franceschetti-Jadassohn syndrome	Autosomal dominant
KRT5	Skin Disorder	Dowling-Degos disease 1; Epidermolysis bullosa simplex	Autosomal dominant
KRT9	Skin Disorder	Palmoplantar keratoderma, epidermolytic	Autosomal dominant
L1CAM	Neurologic Disorder	Hydrocephalus; MASA syndrome	X-linked recessive
L2HGDH	Neurologic Disorder	L-2-hydroxyglutaric aciduria	Autosomal recessive
LAMA1	Syndromic Disorder	Poretti-Boltshauser syndrome	Autosomal recessive
LAMA2	Neurologic Disorder	Muscular dystrophy, congenital merosin-deficient	Autosomal recessive
LAMA3	Syndromic Disorder	Epidermolysis bullosa, junctional, Herlitz type; Epidermolysis bullosa, junctional, non-Herlitz type; Laryngoonychocutaneous syndrome	Autosomal recessive
LAMB1	Syndromic Disorder	Lissencephaly 5	Autosomal recessive
LAMB2	Kidney Disorder	Pierson syndrome	Autosomal recessive
LAMB3	Syndromic Disorder	Epidermolysis bullosa, junctional, non-Herlitz type	Autosomal recessive
LAMC2	Syndromic Disorder	Epidermolysis bullosa, junctional, Herlitz type; Epidermolysis bullosa, junctional, non-Herlitz type	Autosomal recessive
LAMP2	Metabolic Disorder	Danon disease	X-linked dominant
LARGE1	Neurologic Disorder	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6; Muscular dystrophy- dystroglycanopathy (congenital with impaired intellectual development), type B, 6	Autosomal recessive
LARP7	Syndromic Disorder	Alazami syndrome	Autosomal recessive
LARS2	Syndromic Disorder	Perrault syndrome 4	Autosomal recessive
LBR	Hematologic Disorder	Pelger-Huet anomaly	Autosomal dominant
LCA5	Vision Disorder	Leber congenital amaurosis 5	Autosomal recessive
LCAT	Metabolic Disorder	Fish-eye disease; Norum disease	Autosomal recessive
LDB3	Cardiovascular Disorder	Cardiomyopathy, dilated, 1C, with or without LVNC; Cardiomyopathy, hypertrophic, 24; Myopathy, myofibrillar, 4	Autosomal dominant
LDHA	Metabolic Disorder	Glycogen storage disease XI	Autosomal recessive
LDLR	Cardiovascular Disorder	Familial hypercholesterolemia	Autosomal dominant
LDLRAP1	Cardiovascular Disorder	Familial hypercholesterolemia	Autosomal recessive
LEMD3	Syndromic Disorder	Buschke-Ollendorff syndrome; Osteopoikilosis	Autosomal dominant
LEP	Endocrine Disorder	Obesity, morbid, due to leptin deficiency	Autosomal recessive
LEPR	Endocrine Disorder	Obesity, morbid, due to leptin receptor deficiency	Autosomal recessive
LHCGR	Endocrine Disorder	Leydig cell hypoplasia with hypergonadotropic hypogonadism; Leydig cell hypoplasia with pseudohermaphroditism	Autosomal recessive
LHX3	Endocrine Disorder	Pituitary hormone deficiency, combined, 3	Autosomal recessive
LHX4	Endocrine Disorder	Pituitary hormone deficiency, combined, 4	Autosomal dominant
LIAS	Metabolic Disorder	Hyperglycinemia, lactic acidosis, and seizures	Autosomal recessive
LIFR	Musculoskeletal Disorder	Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome	Autosomal recessive
LIG4	Syndromic Disorder	LIG4 syndrome	Autosomal recessive
LIM2	Vision Disorder	Cataract 19, multiple types	Autosomal recessive
LINS1	Syndromic Disorder	Intellectual functioning disability	Autosomal recessive
LIPA	Metabolic Disorder	Cholesteryl ester storage disease; Wolman disease	Autosomal recessive
LIPC	Metabolic Disorder	Hepatic lipase deficiency	Autosomal recessive
LIPT1	Metabolic Disorder	Lipoyltransferase 1 deficiency	Autosomal recessive
LITAF	Neurologic Disorder	Charcot-Marie-Tooth disease, type 1C	Autosomal dominant
LMAN1	Hematologic Disorder	Combined factor V and VIII deficiency	Autosomal recessive
LMBRD1	Metabolic Disorder	Methylmalonic aciduria and homocystinuria, cblF type	Autosomal recessive
LMF1	Metabolic Disorder	Lipase deficiency, combined	Autosomal recessive
LMNA	Cardiovascular Disorder	Cardiomyopathy, dilated, 1A	Autosomal dominant
LMNB1	Neurodegenerative Disorder	Leukodystrophy, adult-onset, autosomal dominant	Autosomal dominant
LMOD3	Musculoskeletal Disorder	Nemaline myopathy 10	Autosomal recessive
LMX1B	Syndromic Disorder	Nail-patella syndrome	Autosomal dominant
LORICRIN	Skin Disorder	Vohwinkel syndrome with ichthyosis	Autosomal dominant
LOX	Cardiovascular Disorder	Aortic aneurysm, familial thoracic 10	Autosomal dominant
LOXHD1	Hearing Disorder	Hearing loss	Autosomal recessive
LPIN1	Kidney Disorder	Myoglobinuria, acute recurrent, autosomal recessive	Autosomal recessive
LPL	Metabolic Disorder	Lipoprotein lipase deficiency	Autosomal recessive
LRAT	Vision Disorder	Leber congenital amaurosis 14	Autosomal recessive
LRBA	Immunological Disorder	Immunodeficiency, common variable, 8, with autoimmunity	Autosomal recessive
LRIG2	Syndromic Disorder	Urofacial syndrome 2	Autosomal recessive
LRIT3	Vision Disorder	Congenital stationary night blindness	Autosomal recessive
LRMDA	Skin Disorder	Albinism, oculocutaneous, type VII	Autosomal recessive
LRP2	Syndromic Disorder	Donnai-Barrow syndrome	Autosomal recessive
LRP5	Syndromic Disorder	Exudative vitreoretinopathy 4	Autosomal dominant
LRP5	Syndromic Disorder	Osteoporosis-pseudoglioma syndrome	Autosomal recessive
LRP5	Syndromic Disorder	Osteosclerosis	Autosomal dominant
LRP6	Syndromic Disorder	Tooth agenesis, selective, 7	Autosomal dominant
LRPAP1	Vision Disorder	Myopia	Autosomal recessive
LRPPRC	Syndromic Disorder	Leigh syndrome, French-Canadian type	Autosomal recessive
LRRK2	Neurodegenerative Disorder	Parkinson disease 8	Autosomal dominant
LRSAM1	Neurologic Disorder	Charcot-Marie-Toothe disease, axonal, type 2P	Autosomal dominant
LTBP2	Vision Disorder	Glaucoma 3, primary congenital, D; Microspherophakia and/ or megalocornea, with ectopia lentis and with or without secondary glaucoma; Weill-Marchesani syndrome	Autosomal recessive
LTBP3	Syndromic Disorder	Dental anomalies and short stature	Autosomal recessive
LTBP4	Syndromic Disorder	Inherited cutis laxa	Autosomal recessive
LYST	Syndromic Disorder	Chediak-Higashi syndrome	Autosomal recessive
LZTFL1	Syndromic Disorder	Bardet-Biedl syndrome 17	Autosomal recessive
LZTR1	Syndromic Disorder	Schwannomatosis-2, susceptibility to	Autosomal dominant
MAFB	Syndromic Disorder	Duane retraction syndrome 3; Multicentric carpotarsal osteolysis syndrome	Autosomal dominant
MAGEL2	Syndromic Disorder	Schaaf-Yang syndrome	Autosomal dominant
MAGT1	Immunological Disorder	Immunodeficiency, X-linked, with magnesium defect, Epstein- Barr virus infection and neoplasia	X-linked recessive
MAK	Vision Disorder	Retinitis pigmentosa 62	Autosomal recessive
MALT1	Immunological Disorder	Immunodeficiency 12	Autosomal recessive
MAN2B1	Syndromic Disorder	Mannosidosis, alpha-, types I and II	Autosomal recessive
MAP2K1	Syndromic Disorder	Cardiofaciocutaneous syndrome 3	Autosomal dominant
MAP2K2	Syndromic Disorder	Cardiofaciocutaneous syndrome 4	Autosomal dominant
MAP3K7	Syndromic Disorder	Cardiospondylocarpofacial syndrome; Frontometaphyseal dysplasia 2	Autosomal dominant
MAPT	Neurodegenerative Disorder	Dementia, frontotemporal, with or without parkinsonism; Supranuclear palsy, progressive	Autosomal dominant
MARVELD2	Hearing Disorder	Deafness, autosomal recessive 49	Autosomal recessive
MATN3	Musculoskeletal Disorder	Epiphyseal dysplasia, multiple, 5	Autosomal dominant
MAX	Hereditary Cancer	Pheochromocytoma, susceptibility to	Autosomal dominant
MBD5	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
MBTPS2	Skin Disorder	IFAP syndrome with or without BRESHECK syndrome; Keratosis follicularis spinulosa decalvans, X-linked	X-linked recessive
MCCC1	Metabolic Disorder	3-Methylcrotonyl-CoA carboxylase 1 deficiency	Autosomal recessive
MCCC2	Metabolic Disorder	3-Methylcrotonyl-CoA carboxylase 2 deficiency	Autosomal recessive
MCEE	Metabolic Disorder	Methylmalonyl-CoA epimerase deficiency	Autosomal recessive
MCM4	Immunological Disorder	Natural killer cell and glucocorticoid deficiency with DNA repair defect	Autosomal recessive
MCOLN1	Syndromic Disorder	Mucolipidosis IV	Autosomal recessive
MCPH1	Syndromic Disorder	Microcephaly 1, primary, autosomal recessive	Autosomal recessive
MECP2	Neurologic Disorder	Rett syndrome; Rett syndrome, atypical	X-linked dominant
MED12	Syndromic Disorder	Lujan-Fryns syndrome; Opitz-Kaveggia syndrome	X-linked recessive
MED13L	Syndromic Disorder	Impaired intellectual development and distinctive facial features with or without cardiac defects; Transposition of the great arteries, dextro-looped 1	Autosomal dominant
MED17	Syndromic Disorder	Microcephaly, postnatal progressive, with seizures and brain atrophy	Autosomal recessive
MED25	Syndromic Disorder	Basel-Vanagait-Smirin-Yosef syndrome	Autosomal recessive
MEF2C	Syndromic Disorder	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Autosomal dominant
MEFV	Syndromic Disorder	Familial Mediterranean fever	Autosomal recessive
MEGF10	Musculoskeletal Disorder	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, mild variant	Autosomal recessive
MEGF8	Syndromic Disorder	Carpenter syndrome 2	Autosomal recessive
MEIS2	Syndromic Disorder	Cleft palate, cardiac defects, and intellectual deficit	Autosomal dominant
MEN1	Hereditary Cancer	Multiple endocrine neoplasia 1	Autosomal dominant
MERTK	Vision Disorder	Retinitis pigmentosa 38	Autosomal recessive
MESP2	Musculoskeletal Disorder	Spondylocostal dysostosis 2, autosomal recessive	Autosomal recessive
MET	Hereditary Cancer	Renal cell carcinoma, papillary	Autosomal dominant
METTL23	Neurologic Disorder	Intellectual functioning disability	Autosomal recessive
MFAP5	Cardiovascular Disorder	Aortic aneurysm, familial thoracic 9	Autosomal dominant
MFF	Neurologic Disorder	Encephalopathy due to defective mitochondrial and peroxisomal fission 2	Autosomal recessive
MFN2	Neurologic Disorder	Charcot-Marie-Tooth disease, axonal, type 2A2A; Hereditary motor and sensory neuropathy VIA	Autosomal dominant
MFN2	Neurologic Disorder	Charcot-Marie-Tooth disease, axonal, type 2A2B	Autosomal recessive
MFRP	Vision Disorder	Microphthalmia, isolated 5; Nanophthalmos 2	Autosomal recessive
MFSD8	Neurologic Disorder	Ceroid lipofuscinosis, neuronal, 7	Autosomal recessive
MGP	Syndromic Disorder	Keutel syndrome	Autosomal recessive
MIB1	Cardiovascular Disorder	Left ventricular noncompaction 7	Autosomal dominant
MICU1	Neurologic Disorder	Myopathy with extrapyramidal signs	Autosomal recessive
MIP	Vision Disorder	Cataract 15, multiple types	Autosomal dominant
MITF	Hereditary Cancer	Melanoma, cutaneous malignant, susceptibility to, 8	Autosomal dominant
MKKS	Syndromic Disorder	Bardet-Biedl syndrome 6; McKusick-Kaufman syndrome	Autosomal recessive
MKRN3	Endocrine Disorder	Precocious puberty, central, 2	Autosomal dominant
MKS1	Syndromic Disorder	Bardet-Biedl syndrome 13; Meckel syndrome 1	Autosomal recessive
MLC1	Neurologic Disorder	Megalencephalic leukoencephalopathy with subcortical cysts	Autosomal recessive
MLH1	Hereditary Cancer	Lynch syndrome	Autosomal dominant
MLH3	Hereditary Cancer	Lynch syndrome	Autosomal recessive
MLYCD	Metabolic Disorder	Malonyl-CoA decarboxylase deficiency	Autosomal recessive
MMAA	Syndromic Disorder	Methylmalonic aciduria, vitamin B12-responsive	Autosomal recessive
MMAB	Syndromic Disorder	Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type	Autosomal recessive
MMACHC	Syndromic Disorder	Methylmalonic aciduria and homocystinuria, cblC type	Autosomal recessive
MMADHC	Metabolic Disorder	Methylmalonic aciduria and homocystinuria, cblD type	Autosomal recessive
MME	Neurologic Disorder	Charcot-Marie-Tooth disease, axonal, type 2T	Autosomal recessive
MMP13	Musculoskeletal Disorder	Metaphyseal anadysplasia 1	Autosomal dominant
MMP2	Musculoskeletal Disorder	Multicentric osteolysis, nodulosis, and arthropathy	Autosomal recessive
MMP20	Dental Disorder	Amelogenesis imperfecta, type IIA2	Autosomal recessive
MMP21	Syndromic Disorder	Heterotaxy, visceral, 7, autosomal	Autosomal recessive
MMUT	Metabolic Disorder	Methylmalonic aciduria, mut(0) type	Autosomal recessive
MNX1	Syndromic Disorder	Currarino syndrome	Autosomal dominant
MOCS1	Metabolic Disorder	Molybdenum cofactor deficiency A	Autosomal recessive
MOCS2	Metabolic Disorder	Molybdenum cofactor deficiency B	Autosomal recessive
MOGS	Syndromic Disorder	Congenital disorder of glycosylation, type IIb	Autosomal recessive
MPDU1	Metabolic Disorder	Congenital disorder of glycosylation, type If	Autosomal recessive
MPDZ	Neurologic Disorder	Hydrocephalus	Autosomal recessive
MPI	Metabolic Disorder	Congenital disorder of glycosylation, type Ib	Autosomal recessive
MPL	Hematologic Disorder	Thrombocythemia 2	Autosomal dominant
MPL	Hematologic Disorder	Thrombocytopenia, congenital amegakaryocytic	Autosomal recessive
MPLKIP	Syndromic Disorder	Trichothiodystrophy 4, nonphotosensitive	Autosomal recessive
MPO	Metabolic Disorder	Myeloperoxidase deficiency	Autosomal recessive
MPV17	Liver Disorder	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)	Autosomal recessive
MPZ	Neurologic Disorder	Charcot-Marie-Tooth disease, type 1B; Charcot-Marie-Tooth disease, type 2I; Charcot-Marie-Tooth disease, type 2J; Dejerine-Sottas disease	Autosomal dominant
MRAP	Endocrine Disorder	Glucocorticoid deficiency 2	Autosomal recessive
MRE11	Neurologic Disorder	Ataxia-telangiectasia-like disorder	Autosomal recessive
MRPS16	Metabolic Disorder	Combined oxidative phosphorylation deficiency 2	Autosomal recessive
MRPS22	Metabolic Disorder	Combined oxidative phosphorylation deficiency 5	Autosomal recessive
MSH2	Hereditary Cancer	Lynch syndrome	Autosomal dominant
MSH3	Hereditary Cancer	Familial adenomatous polyposis 4	Autosomal recessive
MSH6	Hereditary Cancer	Lynch syndrome	Autosomal dominant
MSN	Immunological Disorder	Immunodeficiency 50	X-linked recessive
MSX1	Syndromic Disorder	Ectodermal dysplasia 3, Witkop type; Tooth agenesis, selective, 1, with or without orofacial cleft	Autosomal dominant
MSX2	Syndromic Disorder	Craniosynostosis 2; Parietal foramina 1	Autosomal dominant
MTAP	Hereditary Cancer	Diaphyseal medullary stenosis with malignant fibrous histiocytoma	Autosomal dominant
MTFMT	Metabolic Disorder	Combined oxidative phosphorylation deficiency 15	Autosomal recessive
MTHFR	Neurologic Disorder	Homocystinuria due to MTHFR deficiency	Autosomal recessive
MTM1	Neurologic Disorder	Myotubular myopathy	X-linked recessive
MTMR2	Neurologic Disorder	Charcot-Marie-Tooth disease, type 4B1	Autosomal recessive
MTO1	Metabolic Disorder	Combined oxidative phosphorylation deficiency 10	Autosomal recessive
MTOR	Syndromic Disorder	Smith-Kingsmore syndrome	Autosomal dominant
MTR	Metabolic Disorder	Homocystinuria-megaloblastic anemia, cblG complementation type	Autosomal recessive
MTRFR	Metabolic Disorder	Combined oxidative phosphorylation deficiency 7; Spastic paraplegia 55, autosomal recessive	Autosomal recessive
MTRR	Metabolic Disorder	Homocystinuria-megaloblastic anemia, cbl E type	Autosomal recessive
MTTP	Metabolic Disorder	Abetalipoproteinemia	Autosomal recessive
MUSK	Musculoskeletal Disorder	Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency	Autosomal recessive
MUTYH	Hereditary Cancer	MYH-associated polyposis	Autosomal recessive
MVK	Syndromic Disorder	Hyper-IgD syndrome; Mevalonic aciduria	Autosomal recessive
MYBPC1	Syndromic Disorder	Arthrogryposis, distal, type 1B	Autosomal dominant
MYBPC3	Cardiovascular Disorder	Dilated cardiomyopathy; Hypertrophic cardiomyopathy	Autosomal dominant
MYCN	Syndromic Disorder	Feingold syndrome 1	Autosomal dominant
MYH11	Cardiovascular Disorder	Aortic aneurysm, familial thoracic 4	Autosomal dominant
MYH14	Neurologic Disorder	Sensorineural hearing loss	Autosomal dominant
MYH2	Musculoskeletal Disorder	Proximal myopathy and ophthalmoplegia	Autosomal recessive
MYH3	Syndromic Disorder	Distal arthrogryposis syndrome	Autosomal dominant
MYH6	Cardiovascular Disorder	Cardiomyopathy, dilated, 1EE; Cardiomyopathy, hypertrophic, 14; Sick sinus syndrome 3	Autosomal dominant
MYH7	Cardiovascular Disorder	Dilated cardiomyopathy; Hypertrophic cardiomyopathy	Autosomal dominant
MYH8	Neurologic Disorder	Trismus-pseudocamptodactyly syndrome	Autosomal dominant
MYH9	Syndromic Disorder	MYH9 related disease	Autosomal dominant
MYL2	Cardiovascular Disorder	Cardiomyopathy, hypertrophic, 10	Autosomal dominant
MYL2	Cardiovascular Disorder	Cardiomyopathy, hypertrophic, 10	Autosomal recessive
MYL3	Cardiovascular Disorder	Hypertrophic cardiomyopathy	Autosomal dominant
MYO15A	Hearing Disorder	Hearing loss	Autosomal recessive
MYO3A	Hearing Disorder	Hearing loss	Autosomal recessive
MYO6	Hearing Disorder	Sensorineural hearing loss	Autosomal dominant
MYO6	Hearing Disorder	Sensorineural hearing loss	Autosomal recessive
MYO7A	Hearing Disorder	Hearing loss; Usher syndrome, type 1B	Autosomal recessive
MYOC	Vision Disorder	Glaucoma 1A, primary open angle	Autosomal dominant
MYOT	Musculoskeletal Disorder	Muscular dystrophy, limb-girdle, type 1A	Autosomal dominant
MYPN	Cardiovascular Disorder	Cardiomyopathy, dilated, 1KK; Cardiomyopathy, familial restrictive, 4; Cardiomyopathy, hypertrophic, 22	Autosomal dominant
MYT1L	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
NAGA	Neurologic Disorder	Schindler disease, type I	Autosomal recessive
NAGLU	Metabolic Disorder	Mucopolysaccharidosis type IIIB (Sanfilippo B)	Autosomal recessive
NAGS	Metabolic Disorder	N-acetylglutamate synthase deficiency	Autosomal recessive
NBAS	Syndromic Disorder	Infantile liver failure syndrome 2; Short stature, optic nerve atrophy, and Pelger-Huet anomaly	Autosomal recessive
NBEAL2	Hematologic Disorder	Gray platelet syndrome	Autosomal recessive
NBN	Hereditary Cancer	Breast cancer susceptibility; Nijmegen breakage syndrome	Autosomal dominant; Autosomal recessive
NCF1	Immunological Disorder	Chronic granulomatous disease due to deficiency of NCF-1	Autosomal recessive
NCF2	Immunological Disorder	Chronic granulomatous disease due to deficiency of NCF-2	Autosomal recessive
NDP	Syndromic Disorder	Norrie disease	X-linked recessive
NDRG1	Neurologic Disorder	Charcot-Marie-Tooth disease, type 4D	Autosomal recessive
NDUFA12	Metabolic Disorder	Leigh syndrome due to mitochondrial complex 1 deficiency	Autosomal recessive
NDUFAF2	Syndromic Disorder	Mitochondrial complex I deficiency	Autosomal recessive
NDUFAF5	Syndromic Disorder	Mitochondrial complex 1 deficiency	Autosomal recessive
NDUFAF6	Syndromic Disorder	Leigh syndrome due to mitochondrial complex I deficiency	Autosomal recessive
NDUFB3	Syndromic Disorder	Mitochondrial complex I deficiency	Autosomal recessive
NDUFS1	Syndromic Disorder	Mitochondrial complex I deficiency	Autosomal recessive
NDUFS2	Syndromic Disorder	Mitochondrial complex I deficiency	Autosomal recessive
NDUFS4	Syndromic Disorder	Leigh syndrome; Mitochondrial complex I deficiency	Autosomal recessive
NDUFS6	Syndromic Disorder	Mitochondrial complex I deficiency	Autosomal recessive
NDUFV1	Syndromic Disorder	Mitochondrial complex I deficiency	Autosomal recessive
NDUFV2	Immunological Disorder	Mitochondrial complex I deficiency	Autosomal recessive
NEB	Neurologic Disorder	Nemaline myopathy	Autosomal recessive
NEFL	Neurologic Disorder	Charcot-Marie-Tooth disease, type 1F; Charcot-Marie-Tooth disease, type 2E	Autosomal dominant
NEK1	Musculoskeletal Disorder	Short-rib thoracic dysplasia 6 with or without polydactyly	Autosomal recessive
NEU1	Syndromic Disorder	Sialidosis, type I; Sialidosis, type II	Autosomal recessive
NEXMIF	Neurologic Disorder	Intellectual functioning disability	X-linked dominant
NEXN	Cardiovascular Disorder	Cardiomyopathy, dilated, 1CC; Cardiomyopathy, hypertrophic, 20	Autosomal dominant
NF1	Hereditary Cancer	Neurofibromatosis, type 1	Autosomal dominant
NF2	Hereditary Cancer	Neurofibromatosis, type 2	Autosomal dominant
NFIX	Syndromic Disorder	Marshall-Smith syndrome; Sotos syndrome 2	Autosomal dominant
NFKB1	Immunological Disorder	Immunodeficiency, common variable, 12	Autosomal dominant
NFKB2	Immunological Disorder	Immunodeficiency, common variable, 10	Autosomal dominant
NFKBIA	Syndromic Disorder	Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency	Autosomal dominant
NFU1	Syndromic Disorder	Multiple mitochondrial dysfunctions syndrome 1	Autosomal recessive
NGF	Neurologic Disorder	Neuropathy, hereditary sensory and autonomic, type V	Autosomal recessive
NGLY1	Metabolic Disorder	Congenital disorder of deglycosylation	Autosomal recessive
NHLRC1	Neurologic Disorder	Epilepsy, progressive myoclonic 2B (Lafora)	Autosomal recessive
NHS	Syndromic Disorder	Nance-Horan syndrome	X-linked dominant
NIPA1	Neurologic Disorder	Spastic paraplegia 6, autosomal dominant	Autosomal dominant
NIPAL4	Skin Disorder	Ichthyosis, congenital, autosomal recessive 6	Autosomal recessive
NIPBL	Syndromic Disorder	Cornelia de Lange syndrome 1	Autosomal dominant
NKX2-1	Neurologic Disorder	Chorea, hereditary benign	Autosomal dominant
NKX2-5	Cardiovascular Disorder	Atrial septal defect 7, with or without AV conduction defects	Autosomal dominant
NLRP12	Immunological Disorder	Familial cold autoinflammatory syndrome 2	Autosomal dominant
NLRP7	Syndromic Disorder	Hydatidiform mole, recurrent, 1	Autosomal recessive
NMNAT1	Vision Disorder	Leber congenital amaurosis 9	Autosomal recessive
NNT	Endocrine Disorder	Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency	Autosomal recessive
NOBOX	Syndromic Disorder	Premature ovarian failure 5	Autosomal dominant
NOBOX	Syndromic Disorder	Premature ovarian failure 5	Autosomal recessive
NOD2	Syndromic Disorder	Blau syndrome	Autosomal dominant
NODAL	Syndromic Disorder	Heterotaxy, visceral, 5	Autosomal dominant
NOG	Syndromic Disorder	Multiple synostoses syndrome 1; Symphalangism, proximal, 1A	Autosomal dominant
NONO	Neurologic Disorder	Intellectual functioning disability	X-linked
NOS1AP	Kidney Disorder	Nephrotic syndrome	Autosomal recessive
NOTCH1	Syndromic Disorder	Adams-Oliver syndrome 5; Aortic valve disease 1	Autosomal dominant
NOTCH2	Syndromic Disorder	Alagille syndrome 2; Hajdu-Cheney syndrome	Autosomal dominant
NOTCH3	Neurodegenerative Disorder	Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1; Lateral meningocele syndrome	Autosomal dominant
NPC1	Neurologic Disorder	Niemann-Pick disease, type C1	Autosomal recessive
NPC2	Metabolic Disorder	Niemann-pick disease, type C2	Autosomal recessive
NPHP1	Syndromic Disorder	Joubert syndrome 4; Nephronophthisis 1, juvenile; Senior- Loken syndrome-1	Autosomal recessive
NPHP3	Syndromic Disorder	Renal-hepatic-pancreatic dysplasia 1	Autosomal recessive
NPHP4	Kidney Disorder	Nephronophthisis 4	Autosomal recessive
NPHS1	Kidney Disorder	Nephrotic syndrome, type 1	Autosomal recessive
NPHS2	Kidney Disorder	Nephrotic syndrome, type 2	Autosomal recessive
NPR2	Neurologic Disorder	Acromesomelic dysplasia, Maroteaux type	Autosomal recessive
NPRL2	Neurologic Disorder	Epilepsy, familial focal, with variable foci 2	Autosomal dominant
NPRL3	Neurologic Disorder	Epilepsy, familial focal, with variable foci 3	Autosomal dominant
NR0B1	Endocrine Disorder	46XY sex reversal 2, dosage-sensitive; Adrenal hypoplasia, congenital	X-linked
NR2E3	Vision Disorder	Enhanced S-cone syndrome; Retinitis pigmentosa 37	Autosomal recessive
NR2F1	Vision Disorder	Bosch-Boonstra-Schaaf optic atrophy syndrome	Autosomal dominant
NR2F2	Cardiovascular Disorder	Congenital heart defects, multiple types, 4	Autosomal dominant
NR3C1	Endocrine Disorder	Glucocorticoid resistance	Autosomal dominant
NR3C2	Kidney Disorder	Pseudohypoaldosteronism, type 1	Autosomal dominant
NRAS	Syndromic Disorder	Noonan syndrome 6	Autosomal dominant
NRL	Vision Disorder	Retinitis pigmentosa 27	Autosomal dominant
NSD1	Syndromic Disorder	Sotos syndrome 1	Autosomal dominant
NSDHL	Syndromic Disorder	CHILD syndrome	X-linked dominant
NSMCE3	Immunological Disorder	Lung disease, immunodeficiency, and chromosome breakage syndrome	Autosomal recessive
NSUN2	Neurologic Disorder	Intellectual functioning disability	Autosomal recessive
NT5C2	Neurologic Disorder	Spastic paraplegia	Autosomal recessive
NT5C3A	Hematologic Disorder	Anemia, hemolytic, due to UMPH1 deficiency	Autosomal recessive
NTHL1	Hereditary Cancer	Familial adenomatous polyposis 3	Autosomal recessive
NTRK1	Neurologic Disorder	Hereditary insensitivity to pain with anhidrosis	Autosomal recessive
NTRK2	Syndromic Disorder	Epileptic encephalopathy	Autosomal dominant
NUBPL	Syndromic Disorder	Mitochondrial complex I deficiency	Autosomal recessive
NUP62	Neurologic Disorder	Striatonigral degeneration, infantile	Autosomal recessive
NYX	Vision Disorder	Night blindness, congenital stationary (complete), 1A, X-linked	X-linked recessive
OCA2	Syndromic Disorder	Albinism, brown oculocutaneous; Albinism, oculocutaneous, type II	Autosomal recessive
OCLN	Neurologic Disorder	Pseudo-TORCH syndrome 1	Autosomal recessive
OCRL	Kidney Disorder	Dent disease 2; Lowe syndrome	X-linked recessive
ODAD1	Respiratory Disorder	Ciliary dyskinesia, primary, 20	Autosomal recessive
ODAD2	Respiratory Disorder	Ciliary dyskinesia, primary, 23	Autosomal recessive
ODAD3	Respiratory Disorder	Ciliary dyskinesia, primary, 30	Autosomal recessive
OFD1	Musculoskeletal Disorder	Orofaciodigital syndrome I	X-linked dominant
OPA1	Vision Disorder	Optic atrophy 1	Autosomal dominant
OPA3	Vision Disorder	Optic atrophy 3 with cataract	Autosomal dominant
OPHN1	Neurologic Disorder	Intellectual functioning disability	X-linked recessive
OPLAH	Metabolic Disorder	5-oxoprolinase deficiency	Autosomal dominant
OPN1LW	Vision Disorder	Colorblindness, protan	X-linked
OPTN	Neurodegenerative Disorder	Amyotrophic lateral sclerosis 12; Glaucoma 1, open angle, E	Autosomal dominant
ORAI1	Immunological Disorder	Immunodeficiency 9	Autosomal recessive
ORC1	Syndromic Disorder	Meier-Gorlin syndrome 1	Autosomal recessive
OSBPL2	Hearing Disorder	Deafness, autosomal dominant 67	Autosomal dominant
OTC	Metabolic Disorder	Ornithine transcarbamylase deficiency	X-linked recessive
OTOA	Hearing Disorder	Hearing loss	Autosomal recessive
OTOF	Hearing Disorder	Auditory neuropathy, autosomal recessive, 1; Sensorineural hearing loss	Autosomal recessive
OTOG	Hearing Disorder	Deafness, autosomal recessive 18B	Autosomal recessive
OTOGL	Hearing Disorder	Sensorineural hearing loss	Autosomal recessive
OTX2	Syndromic Disorder	Microphthalmia, syndromic 5; Pituitary hormone deficiency, combined, 6; Retinal dystrophy, early-onset, with or without pituitary dysfunction	Autosomal dominant
OXCT1	Metabolic Disorder	Succinyl CoA:3-oxoacid CoA transferase deficiency	Autosomal recessive
P3H1	Musculoskeletal Disorder	Osteogenesis imperfecta, type VIII	Autosomal recessive
P3H2	Vision Disorder	Myopia, high, with cataract and vitreoretinal degeneration	Autosomal recessive
PACS1	Syndromic Disorder	Schuurs-Hoeijmakers syndrome	Autosomal dominant
PADI6	Metabolic Disorder	Preimplantation embryonic lethality 2	Autosomal recessive
PAFAH1B1	Neurologic Disorder	Lissencephaly 1	Autosomal dominant
PAH	Metabolic Disorder	Phenylketonuria	Autosomal recessive
PAK3	Neurologic Disorder	Intellectual functioning disability	X-linked
PALB2	Hereditary Cancer	Breast cancer, susceptibility to	Autosomal dominant
PANK2	Neurodegenerative Disorder	Neurodegeneration with brain iron accumulation 1	Autosomal recessive
PAPSS2	Musculoskeletal Disorder	Brachyolmia 4 with mild epiphyseal and metaphyseal changes	Autosomal recessive
PARN	Respiratory Disorder	Pulmonary fibrosis and/or bone marrow failure, telomere- related, 4	Autosomal dominant
PAX2	Kidney Disorder	Glomerulosclerosis, focal segmental, 7; Papillorenal syndrome	Autosomal dominant
PAX3	Syndromic Disorder	Waardenburg syndrome, type 1; Waardenburg syndrome, type 3	Autosomal dominant
PAX8	Endocrine Disorder	Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia	Autosomal dominant
PAX9	Dental Disorder	Tooth agenesis, selective, 3	Autosomal dominant
PC	Neurologic Disorder	Pyruvate carboxylase deficiency	Autosomal recessive
PCARE	Vision Disorder	Retinitis pigmentosa 54	Autosomal recessive
PCBD1	Metabolic Disorder	Hyperphenylalaninemia, BH4-deficient, D	Autosomal recessive
PCCA	Metabolic Disorder	Propionicacidemia	Autosomal recessive
PCCB	Metabolic Disorder	Propionic acidemia	Autosomal recessive
PCDH15	Syndromic Disorder	Usher syndrome type 1	Autosomal recessive
PCDH19	Neurologic Disorder	Epileptic encephalopathy, early infantile, 9	X-linked
PCNT	Musculoskeletal Disorder	Microcephalic osteodysplastic primordial dwarfism, type II	Autosomal recessive
PCSK1	Endocrine Disorder	Obesity with impaired prohormone processing	Autosomal recessive
PCSK9	Cardiovascular Disorder	Familial hypercholesterolemia	Autosomal dominant
PCYT1A	Syndromic Disorder	Spondylometaphyseal dysplasia with cone-rod dystrophy	Autosomal recessive
PDCD10	Syndromic Disorder	Cerebral cavernous malformations 3	Autosomal dominant
PDE4D	Syndromic Disorder	Acrodysostosis 2, with or without hormone resistance	Autosomal dominant
PDE6A	Vision Disorder	Retinitis pigmentosa 43	Autosomal recessive
PDE6B	Vision Disorder	Retinitis pigmentosa-40	Autosomal recessive
PDE6C	Vision Disorder	Cone dystrophy 4	Autosomal recessive
PDE6H	Vision Disorder	Achromatopsia 6; Retinal cone dystrophy 3	Autosomal recessive
PDE8B	Neurologic Disorder	Striatal degeneration, autosomal dominant	Autosomal dominant
PDGFB	Neurodegenerative Disorder	Basal ganglia calcification, idiopathic, 5	Autosomal dominant
PDGFRB	Syndromic Disorder	Myofibromatosis, infantile, 1	Autosomal dominant
PDHA1	Neurologic Disorder	Pyruvate dehydrogenase E1-alpha deficiency	X-linked dominant
PDHB	Neurologic Disorder	Pyruvate dehydrogenase E1-beta deficiency	Autosomal recessive
PDHX	Metabolic Disorder	Lacticacidemia due to PDX1 deficiency	Autosomal recessive
PDP1	Metabolic Disorder	Pyruvate dehydrogenase phosphatase deficiency	Autosomal recessive
PDX1	Endocrine Disorder	MODY, type IV	Autosomal dominant
PDZD7	Hearing Disorder	Deafness, autosomal recessive 57	Autosomal recessive
PEPD	Metabolic Disorder	Prolidase deficiency	Autosomal recessive
PEX1	Syndromic Disorder	Peroxisome biogenesis disorder 1A (Zellweger)	Autosomal recessive
PEX10	Neurologic Disorder	Peroxisome biogenesis disorder 6A (Zellweger); Peroxisome biogenesis disorder 6B	Autosomal recessive
PEX12	Neurologic Disorder	Peroxisome biogenesis disorder 3A (Zellweger); Peroxisome biogenesis disorder 3B	Autosomal recessive
PEX13	Syndromic Disorder	Peroxisome biogenesis disorder 11A (Zellweger); Peroxisome biogenesis disorder 11B	Autosomal recessive
PEX14	Syndromic Disorder	Peroxisome biogenesis disorder 13A (Zellweger)	Autosomal recessive
PEX16	Syndromic Disorder	Peroxisome biogenesis disorder 8A (Zellweger)	Autosomal recessive
PEX19	Syndromic Disorder	Peroxisome biogenesis disorder 12A (Zellweger)	Autosomal recessive
PEX2	Syndromic Disorder	Peroxisome biogenesis disorder 5A (Zellweger); Peroxisome biogenesis disorder 5B	Autosomal recessive
PEX26	Syndromic Disorder	Peroxisome biogenesis disorder 7A (Zellweger); Peroxisome biogenesis disorder 7B	Autosomal recessive
PEX3	Syndromic Disorder	Peroxisome biogenesis disorder 10A (Zellweger)	Autosomal recessive
PEX5	Syndromic Disorder	Peroxisome biogenesis disorder 2A (Zellweger); Peroxisome biogenesis disorder 2B; Rhizomelic chondrodysplasia punctata, type 5	Autosomal recessive
PEX6	Neurologic Disorder	Peroxisome biogenesis disorder 4A (Zellweger); Peroxisome biogenesis disorder 4B	Autosomal recessive
PEX7	Syndromic Disorder	Rhizomelic chondrodysplasia punctata, type 1	Autosomal recessive
PFKM	Metabolic Disorder	Glycogen storage disease VII	Autosomal recessive
PGAM2	Metabolic Disorder	Glycogen storage disease X	Autosomal recessive
PGAP1	Neurologic Disorder	Intellectual functioning disability	Autosomal recessive
PGAP3	Syndromic Disorder	Hyperphosphatasia with intellectual deficit syndrome 4	Autosomal recessive
PGM1	Metabolic Disorder	Congenital disorder of glycosylation, type It	Autosomal recessive
PGM3	Immunological Disorder	Immunodeficiency 23	Autosomal recessive
PHEX	Musculoskeletal Disorder	Hypophosphatemic rickets, X-linked dominant	X-linked dominant
PHF6	Syndromic Disorder	Borjeson-Forssman-Lehmann syndrome	X-linked recessive
PHF8	Neurologic Disorder	X-linked intellectual disability Siderius type	X-linked recessive
PHGDH	Syndromic Disorder	Neu-Laxova syndrome 1; Phosphoglycerate dehydrogenase deficiency	Autosomal recessive
PHKA1	Metabolic Disorder	Muscle glycogenosis	X-linked recessive
PHKA2	Metabolic Disorder	Deficiency of phosphorylase kinase	X-linked recessive
PHKB	Metabolic Disorder	Phosphorylase kinase deficiency of liver and muscle, autosomal recessive	Autosomal recessive
PHKG2	Metabolic Disorder	Glycogen storage disease IXc	Autosomal recessive
PHOX2B	Hereditary Cancer	Neuroblastoma, susceptibility to, 2	Autosomal dominant
PHYH	Metabolic Disorder	Refsum disease	Autosomal recessive
PIEZO1	Syndromic Disorder	Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema	Autosomal dominant
PIEZO2	Syndromic Disorder	Arthrogryposis, distal, type 3; Arthrogryposis, distal, type 5	Autosomal dominant
PIGL	Syndromic Disorder	CHIME syndrome	Autosomal recessive
PIGN	Syndromic Disorder	Multiple congenital anomalies-hypotonia-seizures syndrome 1	Autosomal recessive
PIGV	Syndromic Disorder	Mabry syndrome	Autosomal recessive
PIK3CD	Immunological Disorder	Immunodeficiency 14	Autosomal dominant
PIK3R1	Syndromic Disorder	SHORT syndrome	Autosomal dominant
PIK3R2	Syndromic Disorder	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Autosomal dominant
PIKFYVE	Vision Disorder	Corneal fleck dystrophy	Autosomal dominant
PINK1	Neurodegenerative Disorder	Parkinson disease 6, early onset	Autosomal recessive
PITPNM3	Vision Disorder	Cone-rod dystrophy 5	Autosomal dominant
PITX2	Syndromic Disorder	Anterior segment dysgenesis 4; Axenfeld-Rieger syndrome, type 1	Autosomal dominant
PJVK	Hearing Disorder	Hearing loss	Autosomal recessive
PKD1	Kidney Disorder	Polycystic kidney disease, adult type I	Autosomal dominant
PKD1L1	Syndromic Disorder	Heterotaxy, visceral, 8, autosomal	Autosomal recessive
PKD2	Kidney Disorder	Polycystic kidney disease 2	Autosomal dominant
PKHD1	Kidney Disorder	Multiple congenital cysts of kidney	Autosomal recessive
PKLR	Hematologic Disorder	Pyruvate kinase deficiency	Autosomal recessive
PKP1	Skin Disorder	Ectodermal dysplasia/skin fragility syndrome	Autosomal recessive
PKP2	Cardiovascular Disorder	Arrhythmogenic right ventricular dysplasia 9	Autosomal dominant
PLA2G6	Neurologic Disorder	Infantile neuroaxonal dystrophy 1	Autosomal recessive
PLCB1	Neurologic Disorder	Epileptic encephalopathy, early infantile, 12	Autosomal recessive
PLCB4	Syndromic Disorder	Auriculocondylar syndrome 2	Autosomal dominant
PLCE1	Kidney Disorder	Nephrotic syndrome, type 3	Autosomal recessive
PLD1	Cardiovascular Disorder	Cardiac valvular defect, developmental	Autosomal recessive
PLEC	Syndromic Disorder	Epidermolysis bullosa simplex with muscular dystrophy; Epidermolysis bullosa simplex with pyloric atresia; Muscular dystrophy, limb-girdle, type 2Q	Autosomal recessive
PLEKHG5	Neurologic Disorder	Spinal muscular atrophy, distal, autosomal recessive, 4	Autosomal recessive
PLG	Syndromic Disorder	Plasminogen deficiency, type I	Autosomal recessive
PLK4	Syndromic Disorder	Microcephaly and chorioretinopathy, autosomal recessive, 2	Autosomal recessive
PLN	Cardiovascular Disorder	Cardiomyopathy, dilated, 1P; Cardiomyopathy, hypertrophic, 18	Autosomal dominant
PLOD1	Syndromic Disorder	Ehlers-Danlos syndrome, type VI	Autosomal recessive
PLOD2	Musculoskeletal Disorder	Bruck syndrome 2	Autosomal recessive
PLP1	Neurologic Disorder	Pelizaeus-Merzbacher disease; Spastic paraplegia	X-linked recessive
PLS3	Musculoskeletal Disorder	Bone mineral density QTL18, osteoporosis	X-linked dominant
PMM2	Metabolic Disorder	Congenital disorder of glycosylation, type Ia	Autosomal recessive
PMP22	Neurologic Disorder	Charcot-Marie-Tooth disease, type 1A; Charcot-Marie-Tooth disease, type 1E; Dejerine-Sottas disease; Neuropathy, recurrent, with pressure palsies	Autosomal dominant
PMS2	Hereditary Cancer	Lynch syndrome	Autosomal dominant
PNKD	Neurologic Disorder	Paroxysmal nonkinesigenic dyskinesia	Autosomal dominant
PNKP	Neurologic Disorder	Ataxia-oculomotor apraxia 4; Microcephaly, seizures, and developmental delay	Autosomal recessive
PNP	Immunological Disorder	Immunodeficiency due to purine nucleoside phosphorylase deficiency	Autosomal recessive
PNPLA1	Skin Disorder	Ichthyosis, congenital, autosomal recessive 10	Autosomal recessive
PNPLA2	Cardiovascular Disorder	Neutral lipid storage disease with myopathy	Autosomal recessive
PNPLA6	Syndromic Disorder	Boucher-Neuhauser syndrome; Oliver-McFarlane syndrome; Spastic paraplegia	Autosomal recessive
PNPO	Metabolic Disorder	Pyridoxamine 5'-phosphate oxidase deficiency	Autosomal recessive
PNPT1	Syndromic Disorder	Combined oxidative phosphorylation deficiency 13; Deafness, autosomal recessive 70	Autosomal recessive
POC1B	Vision Disorder	Cone-rod dystrophy 20	Autosomal recessive
POGZ	Neurologic Disorder	White-Sutton syndrome	Autosomal dominant
POLD1	Hereditary Cancer	Colorectal cancer, susceptibility to, 10	Autosomal dominant
POLE	Hereditary Cancer	Colorectal cancer, susceptibility to, 12	Autosomal dominant
POLG	Syndromic Disorder	Mitochondrial DNA depletion syndrome 4A (Alpers type); Mitochondrial DNA depletion syndrome 4B (MNGIE type); Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Progressive external ophthalmoplegia	Autosomal dominant; Autosomal recessive
POLH	Hereditary Cancer	Xeroderma pigmentosum, variant type	Autosomal recessive
POLR1C	Neurologic Disorder	Leukodystrophy, hypomyelinating, 11; Treacher Collins syndrome 3	Autosomal recessive
POLR1D	Syndromic Disorder	Treacher Collins syndrome 2	Autosomal dominant
POLR3A	Syndromic Disorder	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism	Autosomal recessive
POLR3B	Neurodegenerative Disorder	Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism	Autosomal recessive
POMC	Endocrine Disorder	Obesity, adrenal insufficiency, and red hair due to POMC deficiency	Autosomal recessive
POMGNT1	Syndromic Disorder	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3; Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 3	Autosomal recessive
POMK	Syndromic Disorder	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12	Autosomal recessive
POMT1	Musculoskeletal Disorder	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1; Muscular dystrophy- dystroglycanopathy (limb-girdle), type C, 1	Autosomal recessive
POMT2	Musculoskeletal Disorder	Limb-girdle muscular dystrophy	Autosomal recessive
POR	Syndromic Disorder	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	Autosomal recessive
PORCN	Skin Disorder	Focal dermal hypoplasia	X-linked dominant
POT1	Hereditary Cancer	Glioma susceptibility 9; Melanoma, cutaneous malignant, susceptibility to, 10	Autosomal dominant
POU1F1	Endocrine Disorder	Pituitary hormone deficiency, combined, 1	Autosomal recessive
POU3F4	Hearing Disorder	Hearing loss	X-linked recessive
POU4F3	Hearing Disorder	Deafness, autosomal dominant 15	Autosomal dominant
PPA2	Cardiovascular Disorder	Sudden cardiac failure, infantile	Autosomal recessive
PPARG	Endocrine Disorder	Lipodystrophy, familial partial, type 3	Autosomal dominant
PPIB	Musculoskeletal Disorder	Osteogenesis imperfecta, type IX	Autosomal recessive
PPM1D	Syndromic Disorder	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold	Autosomal dominant
PPOX	Hematologic Disorder	Porphyria variegata	Autosomal dominant
PPP1CB	Syndromic Disorder	Noonan syndrome-like disorder with loose anagen hair 2	Autosomal dominant
PPP2R5D	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
PPT1	Neurologic Disorder	Ceroid lipofuscinosis, neuronal, 1	Autosomal recessive
PQBP1	Neurologic Disorder	Renpenning syndrome	X-linked recessive
PRCD	Vision Disorder	Retinitis pigmentosa 36	Autosomal recessive
PRDM16	Cardiovascular Disorder	Cardiomyopathy, dilated, 1LL; Left ventricular noncompaction 8	Autosomal dominant
PRDM5	Vision Disorder	Brittle cornea syndrome 2	Autosomal recessive
PRF1	Neurologic Disorder	Hemophagocytic lymphohistiocytosis, familial, 2	Autosomal recessive
PRKAG2	Cardiovascular Disorder	Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital; Wolff-Parkinson-White syndrome	Autosomal dominant
PRKAR1A	Syndromic Disorder	Carney complex, type 1	Autosomal dominant
PRKCSH	Liver Disorder	Polycystic liver disease 1	Autosomal dominant
PRKG1	Cardiovascular Disorder	Aortic aneurysm, familial thoracic 8	Autosomal dominant
PRKN	Neurodegenerative Disorder	Parkinson disease, juvenile, type 2	Autosomal recessive
PRKRA	Neurodegenerative Disorder	Dystonia 16	Autosomal recessive
PRMT7	Syndromic Disorder	Short stature, brachydactyly, intellectual developmental disability, and seizures	Autosomal recessive
PRNP	Neurodegenerative Disorder	Creutzfeldt-Jakob disease; Gerstmann-Straussler disease	Autosomal dominant
PROC	Hematologic Disorder	Hereditary protein C deficiency	Autosomal dominant
PROK2	Endocrine Disorder	Hypogonadotropic hypogonadism	Autosomal recessive
PROKR2	Syndromic Disorder	Hypogonadotropic hypogonadism 3 with or without anosmia	Autosomal dominant
PROM1	Vision Disorder	Cone-rod dystrophy 12; Macular dystrophy, retinal, 2	Autosomal dominant
PROM1	Vision Disorder	Retinitis pigmentosa 41	Autosomal recessive
PROP1	Endocrine Disorder	Pituitary hormone deficiency, combined, 2	Autosomal recessive
PROS1	Hematologic Disorder	Hereditary protein S deficiency	Autosomal dominant
PRPF3	Vision Disorder	Retinitis pigmentosa 18	Autosomal dominant
PRPF31	Vision Disorder	Retinitis pigmentosa 11	Autosomal dominant
PRPF6	Vision Disorder	Retinitis pigmentosa 60	Autosomal dominant
PRPF8	Vision Disorder	Retinitis pigmentosa 13	Autosomal dominant
PRPH2	Vision Disorder	Retinitis pigmentosa	Autosomal dominant
PRPS1	Syndromic Disorder	Arts syndrome	X-linked recessive
PRRT2	Neurologic Disorder	Convulsions, familial infantile, with paroxysmal choreoathetosis; Episodic kinesigenic dyskinesia 1; Seizures, benign familial infantile, 2	Autosomal dominant
PRSS1	Endocrine Disorder	Pancreatitis, hereditary	Autosomal dominant
PRX	Neurologic Disorder	Charcot-Marie-Tooth disease, type 4F; Dejerine-Sottas disease	Autosomal recessive
PSAP	Neurologic Disorder	Combined SAP deficiency; Krabbe disease, atypical; Metachromatic leukodystrophy due to SAP-b deficiency	Autosomal recessive
PSEN1	Neurodegenerative Disorder	Alzheimer disease, type 3	Autosomal dominant
PSEN2	Neurodegenerative Disorder	Alzheimer disease-4	Autosomal dominant
PSMB8	Syndromic Disorder	Autoinflammation, lipodystrophy, and dermatosis syndrome	Autosomal recessive
PSPH	Metabolic Disorder	Phosphoserine phosphatase deficiency	Autosomal recessive
PTCH1	Hereditary Cancer	Basal cell nevus syndrome	Autosomal dominant
PTEN	Hereditary Cancer	PTEN hamartoma tumor syndrome	Autosomal dominant
PTH1R	Musculoskeletal Disorder	Failure of tooth eruption, primary; Metaphyseal chondrodysplasia, Murk Jansen type	Autosomal dominant
PTPN11	Musculoskeletal Disorder	Metachondromatosis	Autosomal dominant
PTPN11	Hereditary Cancer	Noonan syndrome 1	Autosomal dominant
PTPRC	Immunological Disorder	Severe combined immunodeficiency disease	Autosomal recessive
PTPRQ	Hearing Disorder	Deafness, autosomal recessive 84A	Autosomal recessive
PTS	Metabolic Disorder	Hyperphenylalaninemia, BH4-deficient, A	Autosomal recessive
PUF60	Syndromic Disorder	Verheij syndrome	Autosomal dominant
PURA	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
PUS1	Neurologic Disorder	Myopathy, lactic acidosis, and sideroblastic anemia 1	Autosomal recessive
PXDN	Vision Disorder	Anterior segment dysgenesis 7, with sclerocornea	Autosomal recessive
PYCR1	Syndromic Disorder	Cutis laxa, autosomal recessive, type IIB; Cutis laxa, autosomal recessive, type IIIB	Autosomal recessive
PYGL	Metabolic Disorder	Glycogen storage disease VI	Autosomal recessive
PYGM	Metabolic Disorder	Glycogen storage disease, type V	Autosomal recessive
QDPR	Syndromic Disorder	Hyperphenylalaninemia, BH4-deficient, C	Autosomal recessive
RAB23	Syndromic Disorder	Carpenter syndrome	Autosomal recessive
RAB27A	Immunological Disorder	Griscelli syndrome, type 2	Autosomal recessive
RAB28	Vision Disorder	Cone-rod dystrophy 18	Autosomal recessive
RAB33B	Musculoskeletal Disorder	Smith-McCort dysplasia 2	Autosomal recessive
RAB3GAP1	Syndromic Disorder	Warburg micro syndrome 1	Autosomal recessive
RAB3GAP2	Syndromic Disorder	Martsolf syndrome	Autosomal recessive
RAC2	Immunological Disorder	Neutrophil immunodeficiency syndrome	Autosomal dominant
RAD21	Syndromic Disorder	Cornelia de Lange syndrome 4	Autosomal dominant
RAD50	Syndromic Disorder	Nijmegen breakage syndrome-like disorder	Autosomal recessive
RAD51	Hereditary Cancer	Breast cancer, susceptibility to	Autosomal dominant
RAD51C	Hereditary Cancer	Breast-ovarian cancer, familial, susceptibility to, 3	Autosomal dominant
RAD51D	Hereditary Cancer	Breast-ovarian cancer, familial, susceptibility to, 4	Autosomal dominant
RAF1	Syndromic Disorder	Noonan syndrome 5	Autosomal dominant
RAG1	Immunological Disorder	Omenn syndrome; Severe combined immunodeficiency, B cell-negative	Autosomal recessive
RAG2	Immunological Disorder	Omenn syndrome; Severe combined immunodeficiency, B cell-negative	Autosomal recessive
RAI1	Musculoskeletal Disorder	Smith-Magenis syndrome	Autosomal dominant
RAPSN	Musculoskeletal Disorder	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	Autosomal recessive
RARS1	Neurodegenerative Disorder	Leukodystrophy, hypomyelinating, 9	Autosomal recessive
RARS2	Neurologic Disorder	Pontocerebellar hypoplasia, type 6	Autosomal recessive
RASA1	Hematologic Disorder	Capillary malformation-arteriovenous malformation	Autosomal dominant
RB1	Hereditary Cancer	Retinoblastoma	Autosomal dominant
RBBP8	Syndromic Disorder	Jawad syndrome; Seckel syndrome 2	Autosomal recessive
RBCK1	Syndromic Disorder	Polyglucosan body myopathy 1 with or without immunodeficiency	Autosomal recessive
RBM20	Cardiovascular Disorder	Cardiomyopathy, dilated, 1DD	Autosomal dominant
RBM8A	Syndromic Disorder	Thrombocytopenia-absent radius syndrome	Autosomal recessive
RCBTB1	Vision Disorder	Retinal dystrophy with or without extraocular anomalies	Autosomal recessive
RD3	Vision Disorder	Leber congenital amaurosis 12	Autosomal recessive
RDH12	Vision Disorder	Leber congenital amaurosis 13	Autosomal recessive
RDH5	Vision Disorder	Fundus albipunctatus	Autosomal recessive
RDX	Hearing Disorder	Sensorineural hearing loss	Autosomal recessive
RECQL4	Syndromic Disorder	Baller-Gerold syndrome; RAPADILINO syndrome; Rothmund- Thomson syndrome	Autosomal recessive
REEP1	Neurologic Disorder	Spastic paraplegia	Autosomal dominant
REEP6	Vision Disorder	Retinitis pigmentosa 77	Autosomal recessive
RELN	Neurologic Disorder	Lissencephaly 2 (Norman-Roberts type)	Autosomal recessive
REN	Kidney Disorder	Renal tubular dysgenesis	Autosomal recessive
RERE	Neurologic Disorder	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	Autosomal dominant
RET	Gastrointestinal Disorder	Hirschsprung disease, susceptibility to, 1	Autosomal dominant
RET	Hereditary Cancer	Medullary thyroid carcinoma; Multiple endocrine neoplasia IIA; Multiple endocrine neoplasia IIB	Autosomal dominant
RETREG1	Neurologic Disorder	Neuropathy, hereditary sensory and autonomic, type IIB	Autosomal recessive
RFT1	Metabolic Disorder	Congenital disorder of glycosylation, type In	Autosomal recessive
RFX5	Immunological Disorder	Bare lymphocyte syndrome, type II, complementation group C; Bare lymphocyte syndrome, type II, complementation group E	Autosomal recessive
RFXANK	Immunological Disorder	MHC class II deficiency, complementation group B	Autosomal recessive
RFXAP	Immunological Disorder	Bare lymphocyte syndrome, type II, complementation group D	Autosomal recessive
RHO	Vision Disorder	Retinitis pigmentosa	Autosomal dominant
RIMS1	Vision Disorder	Cone-rod dystrophy 7	Autosomal dominant
RIN2	Syndromic Disorder	Macrocephaly, alopecia, cutis laxa, and scoliosis	Autosomal recessive
RIT1	Syndromic Disorder	Noonan syndrome 8	Autosomal dominant
RLBP1	Vision Disorder	Newfoundland rod-cone dystrophy; Retinitis punctata albescens	Autosomal recessive
RMND1	Metabolic Disorder	Combined oxidative phosphorylation deficiency 11	Autosomal recessive
RMRP	Musculoskeletal Disorder	Anauxetic dysplasia; Cartilage-hair hypoplasia	Autosomal recessive
RNASEH2A	Neurologic Disorder	Aicardi-Goutieres syndrome 4	Autosomal recessive
RNASEH2B	Neurologic Disorder	Aicardi-Goutieres syndrome 2	Autosomal recessive
RNASEH2C	Neurologic Disorder	Aicardi-Goutieres syndrome 3	Autosomal recessive
RNF168	Syndromic Disorder	RIDDLE syndrome	Autosomal recessive
RNF43	Hereditary Cancer	Sessile serrated polyposis cancer syndrome	Autosomal dominant
ROBO3	Syndromic Disorder	Gaze palsy, horizontal, with progressive scoliosis	Autosomal recessive
ROGDI	Neurologic Disorder	Kohlschutter-Tonz syndrome	Autosomal recessive
ROM1	Vision Disorder	Retinitis pigmentosa	Autosomal dominant
ROR2	Syndromic Disorder	Brachydactyly, type B1	Autosomal dominant
ROR2	Syndromic Disorder	Robinow syndrome	Autosomal recessive
RORC	Immunological Disorder	Immunodeficiency 42	Autosomal recessive
RP1	Vision Disorder	Retinitis pigmentosa 1	Autosomal dominant
RP1	Vision Disorder	Retinitis pigmentosa 1	Autosomal recessive
RP1L1	Vision Disorder	Occult macular dystrophy	Autosomal dominant
RP2	Vision Disorder	Retinitis pigmentosa 2	X-linked
RPE65	Vision Disorder	Leber congenital amaurosis 2; Retinitis pigmentosa 20	Autosomal recessive
RPGR	Vision Disorder	Cone-rod dystrophy, X-linked, 1; Macular degeneration, X-linked atrophic	X-linked recessive
RPGRIP1	Vision Disorder	Cone-rod dystrophy 13; Leber congenital amaurosis 6	Autosomal recessive
RPGRIP1L	Syndromic Disorder	Meckel syndrome 5	Autosomal recessive
RPL11	Hematologic Disorder	Diamond-Blackfan anemia 7	Autosomal dominant
RPL35A	Syndromic Disorder	Diamond-Blackfan anemia 5	Autosomal dominant
RPL5	Hematologic Disorder	Diamond-Blackfan anemia 6	Autosomal dominant
RPS10	Hematologic Disorder	Diamond-Blackfan anemia 9	Autosomal dominant
RPS19	Hematologic Disorder	Diamond-Blackfan anemia 1	Autosomal dominant
RPS24	Hematologic Disorder	Diamond-blackfan anemia 3	Autosomal dominant
RPS26	Hematologic Disorder	Diamond-Blackfan anemia 10	Autosomal dominant
RPS6KA3	Neurologic Disorder	Coffin-Lowry syndrome; Intellectual developmental disorder, X-linked 19	X-linked dominant
RPS7	Hematologic Disorder	Diamond-Blackfan anemia 8	Autosomal dominant
RRM2B	Syndromic Disorder	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); Mitochondrial DNA depletion syndrome 8B (MNGIE type)	Autosomal recessive
RRM2B	Syndromic Disorder	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5	Autosomal dominant
RS1	Vision Disorder	Retinoschisis	X-linked recessive
RSPH1	Respiratory Disorder	Ciliary dyskinesia, primary, 24	Autosomal recessive
RSPH3	Respiratory Disorder	Ciliary dyskinesia, primary, 32	Autosomal recessive
RSPH4A	Respiratory Disorder	Ciliary dyskinesia, primary, 11	Autosomal recessive
RSPH9	Respiratory Disorder	Ciliary dyskinesia, primary, 12	Autosomal recessive
RSPO1	Syndromic Disorder	Palmoplantar hyperkeratosis and true hermaphroditism; Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal	Autosomal recessive
RSPO4	Syndromic Disorder	Anonychia congenita	Autosomal recessive
RSPRY1	Syndromic Disorder	Spondylopeimetaphyseal dsyplasia, Faden-Alkuraya type	Autosomal recessive
RTEL1	Syndromic Disorder	Dyskeratosis congenita; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3	Autosomal dominant
RTN2	Neurodegenerative Disorder	Spastic paraplegia 12, autosomal dominant	Autosomal dominant
RTN4IP1	Syndromic Disorder	Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures	Autosomal recessive
RUNX1	Hereditary Cancer	Leukemia, acute myeloid; Platelet disorder, familial, with associated myeloid malignancy	Autosomal dominant
RUNX2	Musculoskeletal Disorder	Cleidocranial dysplasia	Autosomal dominant
RYR1	Musculoskeletal Disorder	Central core disease; Malignant hyperthermia susceptibility 1	Autosomal dominant
RYR2	Cardiovascular Disorder	Arrhythmogenic right ventricular dysplasia 2; Ventricular tachycardia, catecholaminergic polymorphic, 1	Autosomal dominant
SACS	Neurologic Disorder	Spastic ataxia, Charlevoix-Saguenay type	Autosomal recessive
SAG	Vision Disorder	Oguchi disease-1; Retinitis pigmentosa 47	Autosomal recessive
SALL1	Syndromic Disorder	Townes-Brocks syndrome	Autosomal dominant
SAMHD1	Syndromic Disorder	Aicardi-Goutieres syndrome 5	Autosomal recessive
SAR1B	Cardiovascular Disorder	Chylomicron retention disease	Autosomal recessive
SATB2	Syndromic Disorder	Glass syndrome	Autosomal dominant
SBDS	Syndromic Disorder	Shwachman-Diamond syndrome	Autosomal recessive
SBF1	Neurologic Disorder	Charcot-Marie-Tooth disease, type 4B3	Autosomal recessive
SBF2	Neurologic Disorder	Charcot-Marie-Tooth disease, type 4B2	Autosomal recessive
SCARB2	Neurologic Disorder	Epilepsy, progressive myoclonic 4, with or without renal failure	Autosomal recessive
SCARF2	Syndromic Disorder	Van den Ende-Gupta syndrome	Autosomal recessive
SCN11A	Neurologic Disorder	Episodic pain syndrome, familial, 3; Neuropathy, hereditary sensory and autonomic, type VII	Autosomal dominant
SCN1A	Neurologic Disorder	Epilepsy, generalized, with febrile seizures plus, type 2; Epileptic encephalopathy, early infantile, 6; Febrile seizures, familial, 3A	Autosomal dominant
SCN1B	Cardiovascular Disorder	Atrial fibrillation, familial, 13; Brugada syndrome 5; Cardiac conduction defect, nonspecific	Autosomal dominant
SCN2A	Neurologic Disorder	Epileptic encephalopathy, early infantile, 11; Seizures, benign familial infantile, 3	Autosomal dominant
SCN4A	Musculoskeletal Disorder	Hyperkalemic periodic paralysis, type 2; Paramyotonia congenita; Potassium aggravated myotonia	Autosomal dominant
SCN4A	Musculoskeletal Disorder	Hypokalemic periodic paralysis, type 2	Autosomal dominant
SCN5A	Cardiovascular Disorder	Atrial fibrillation, familial, 10; Brugada syndrome 1; Primary familial dilated cardiomyopathy	Autosomal dominant
SCN5A	Cardiovascular Disorder	Long QT syndrome-3	Autosomal dominant
SCN8A	Neurologic Disorder	Epileptic encephalopathy, early infantile, 13; Seizures, benign familial infantile, 5	Autosomal dominant
SCN9A	Neurologic Disorder	Erythermalgia, primary; Paroxysmal extreme pain disorder,	Autosomal dominant
SCNN1A	Kidney Disorder	Pseudohypoaldosteronism, type I	Autosomal recessive
SCNN1B	Kidney Disorder	Liddle syndrome	Autosomal dominant
SCNN1B	Kidney Disorder	Pseudohypoaldosteronism, type I	Autosomal recessive
SCNN1G	Kidney Disorder	Liddle syndrome	Autosomal dominant
SCO1	Syndromic Disorder	Mitochondrial complex IV deficiency	Autosomal recessive
SCO2	Metabolic Disorder	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	Autosomal recessive
SCYL1	Neurologic Disorder	Spinocerebellar ataxia	Autosomal recessive
SDCCAG8	Syndromic Disorder	Bardet-Biedl syndrome 16	Autosomal recessive
SDHA	Hereditary Cancer	Paragangliomas 5	Autosomal dominant
SDHAF2	Hereditary Cancer	Paragangliomas 2	Autosomal dominant
SDHB	Hereditary Cancer	Paragangliomas 4	Autosomal dominant
SDHC	Hereditary Cancer	Paragangliomas 3	Autosomal dominant
SDHD	Hereditary Cancer	Paragangliomas 1, with or without deafness	Autosomal dominant
SEC23B	Hematologic Disorder	Dyserythropoietic anemia, congenital, type II	Autosomal recessive
SEC63	Liver Disorder	Polycystic liver disease 2	Autosomal dominant
SECISBP2	Endocrine Disorder	Thyroid hormone metabolism, abnormal	Autosomal recessive
SELENON	Musculoskeletal Disorder	Muscular dystrophy, rigid spine, 1; Myopathy, congenital, with fiber-type disproportion	Autosomal recessive
SEMA4A	Vision Disorder	Cone-rod dystrophy 10; Retinitis pigmentosa 35	Autosomal recessive
SEPSECS	Syndromic Disorder	Pontocerebellar hypoplasia type 2D	Autosomal recessive
SEPTIN9	Neurologic Disorder	Amyotrophy, hereditary neuralgic	Autosomal dominant
SERAC1	Metabolic Disorder	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	Autosomal recessive
SERPINA1	Respiratory Disorder	Alpha-1-antitrypsin deficiency	Autosomal recessive
SERPINB7	Skin Disorder	Palmoplantar keratoderma, Nagashima type	Autosomal recessive
SERPINC1	Hematologic Disorder	Thrombophilia due to antithrombin III deficiency	Autosomal dominant
SERPINE1	Hematologic Disorder	Plasminogen activator inhibitor-1 deficiency	Autosomal recessive
SERPINF1	Musculoskeletal Disorder	Osteogenesis imperfecta, type VI	Autosomal recessive
SERPING1	Syndromic Disorder	Angioedema, hereditary, types I and II	Autosomal dominant
SERPINH1	Musculoskeletal Disorder	Osteogenesis imperfecta, type X	Autosomal recessive
SETBP1	Syndromic Disorder	Intellectual developmental disorder 29; Schinzel-Giedion midface retraction syndrome	Autosomal dominant
SETD2	Neurologic Disorder	Luscan-Lumish syndrome	Autosomal dominant
SETD5	Syndromic Disorder	Intellectual functioning disability	Autosomal dominant
SETX	Neurologic Disorder	Autosomal recessive cerebellar ataxia with oculomotor apraxia type 2	Autosomal recessive
SFXN4	Syndromic Disorder	Combined oxidative phosphorylation deficiency 18	Autosomal recessive
SGCA	Musculoskeletal Disorder	Muscular dystrophy, limb-girdle, type 2D	Autosomal recessive
SGCB	Neurologic Disorder	Muscular dystrophy, limb-girdle, type 2E	Autosomal recessive
SGCD	Cardiovascular Disorder	Cardiomyopathy, dilated, 1L	Autosomal dominant
SGCE	Neurologic Disorder	Dystonia-11, myoclonic	Autosomal dominant
SGCG	Musculoskeletal Disorder	Muscular dystrophy, limb-girdle, type 2C	Autosomal recessive
SGSH	Syndromic Disorder	Mucopolysaccharidosis type IIIA (Sanfilippo A)	Autosomal recessive
SH2D1A	Immunological Disorder	Lymphoproliferative syndrome, X-linked, 1	X-linked recessive
SH3PXD2B	Syndromic Disorder	Frank-ter Haar syndrome	Autosomal recessive
SH3TC2	Neurologic Disorder	Charcot-Marie-Tooth disease, type 4C	Autosomal recessive
SHANK3	Syndromic Disorder	Phelan-McDermid syndrome	Autosomal dominant
SHH	Musculoskeletal Disorder	Holoprosencephaly 3	Autosomal dominant
SHOC2	Syndromic Disorder	Noonan-like syndrome with loose anagen hair	Autosomal dominant
SHOX	Musculoskeletal Disorder	Leri-Weill dyschondrosteosis	Autosomal dominant
SI	Metabolic Disorder	Sucrase-isomaltase deficiency, congenital	Autosomal recessive
SIL1	Syndromic Disorder	Marinesco-Sjogren syndrome	Autosomal recessive
SIX1	Syndromic Disorder	Branchiootic syndrome 3	Autosomal dominant
SIX3	Neurologic Disorder	Holoprosencephaly 2	Autosomal dominant
SKI	Neurologic Disorder	Shprintzen-Goldberg syndrome	Autosomal dominant
SKIC2	Gastrointestinal Disorder	Trichohepatoenteric syndrome 2	Autosomal recessive
SLC12A1	Kidney Disorder	Bartter syndrome, type 1	Autosomal recessive
SLC12A3	Kidney Disorder	Gitelman syndrome	Autosomal recessive
SLC12A6	Neurologic Disorder	Agenesis of the corpus callosum with peripheral neuropathy	Autosomal recessive
SLC13A5	Neurologic Disorder	Epileptic encephalopathy, early infantile, 25	Autosomal recessive
SLC16A1	Metabolic Disorder	Erythrocyte lactate transporter defect; Hyperinsulinemic hypoglycemia, familial, 7; Monocarboxylate transporter 1 deficiency	Autosomal dominant
SLC16A2	Syndromic Disorder	Allan-Herndon-Dudley syndrome	X-linked recessive
SLC17A5	Neurologic Disorder	Sialic acid storage disorder, infantile	Autosomal recessive
SLC17A8	Hearing Disorder	Hearing loss	Autosomal dominant
SLC19A2	Hematologic Disorder	Thiamine-responsive megaloblastic anemia syndrome	Autosomal recessive
SLC19A3	Metabolic Disorder	Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2)	Autosomal recessive
SLC1A4	Neurologic Disorder	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	Autosomal recessive
SLC20A2	Neurologic Disorder	Basal ganglia calcification, idiopathic, 1	Autosomal dominant
SLC22A12	Kidney Disorder	Hypouricemia, renal	Autosomal recessive
SLC22A5	Metabolic Disorder	Carnitine deficiency, systemic primary	Autosomal recessive
SLC24A1	Vision Disorder	Congenital stationary night blindness	Autosomal recessive
SLC24A5	Syndromic Disorder	Albinism, oculocutaneous, type VI	Autosomal recessive
SLC25A13	Metabolic Disorder	Citrullinemia, adult-onset type II; Citrullinemia, type II, neonatal-onset	Autosomal recessive
SLC25A15	Metabolic Disorder	Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome	Autosomal recessive
SLC25A19	Neurologic Disorder	Microcephaly, Amish type; Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type)	Autosomal recessive
SLC25A20	Metabolic Disorder	Carnitine-acylcarnitine translocase deficiency	Autosomal recessive
SLC25A22	Neurologic Disorder	Epileptic encephalopathy, early infantile, 3	Autosomal recessive
SLC25A3	Cardiovascular Disorder	Mitochondrial phosphate carrier deficiency	Autosomal recessive
SLC25A38	Hematologic Disorder	Anemia, sideroblastic, 2, pyridoxine-refractory	Autosomal recessive
SLC25A4	Syndromic Disorder	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2	Autosomal dominant
SLC26A2	Musculoskeletal Disorder	Achondrogenesis Ib; Atelosteogenesis II; Diastrophic dysplasia	Autosomal recessive
SLC26A4	Hearing Disorder	Pendred syndrome	Autosomal recessive
SLC29A3	Immunological Disorder	Histiocytosis-lymphadenopathy plus syndrome	Autosomal recessive
SLC2A1	Metabolic Disorder	Glucose transporter protein type 1 deficiency syndrome	Autosomal dominant
SLC2A10	Cardiovascular Disorder	Arterial tortuosity syndrome	Autosomal recessive
SLC2A2	Metabolic Disorder	Fanconi-Bickel syndrome	Autosomal recessive
SLC2A9	Kidney Disorder	Hypouricemia, renal, 2	Autosomal recessive
SLC30A10	Metabolic Disorder	Hypermanganesemia with dystonia 1	Autosomal recessive
SLC33A1	Neurologic Disorder	Spastic paraplegia 42, autosomal dominant	Autosomal dominant
SLC34A1	Syndromic Disorder	Hypercalcemia, infantile, 2	Autosomal recessive
SLC34A2	Respiratory Disorder	Pulmonary alveolar microlithiasis	Autosomal recessive
SLC34A3	Endocrine Disorder	Hypophosphatemic rickets with hypercalciuria	Autosomal recessive
SLC35A3	Syndromic Disorder	Autism spectrum disorder, epilepsy, arthrogryposis syndrome	Autosomal recessive
SLC35C1	Metabolic Disorder	Congenital disorder of glycosylation, type IIc	Autosomal recessive
SLC37A4	Metabolic Disorder	Glycogen storage disease Ib	Autosomal recessive
SLC39A13	Musculoskeletal Disorder	Spondylocheirodysplasia, Ehlers-Danlos syndrome-like	Autosomal recessive
SLC39A4	Metabolic Disorder	Acrodermatitis enteropathica	Autosomal recessive
SLC3A1	Kidney Disorder	Cystinuria	Autosomal recessive
SLC45A2	Syndromic Disorder	Albinism, oculocutaneous, type IV	Autosomal recessive
SLC46A1	Metabolic Disorder	Folate malabsorption, hereditary	Autosomal recessive
SLC4A1	Hematologic Disorder	Spherocytosis, type 4	Autosomal dominant
SLC4A11	Vision Disorder	Corneal endothelial dystrophy; Corneal endothelial dystrophy and perceptive deafness	Autosomal recessive
SLC52A2	Syndromic Disorder	Brown-Vialetto-Van Laere syndrome 2	Autosomal recessive
SLC52A3	Neurologic Disorder	Brown-Vialetto-Van Laere syndrome 1; Fazio-Londe disease	Autosomal recessive
SLC5A1	Metabolic Disorder	Glucose/galactose malabsorption	Autosomal recessive
SLC5A2	Kidney Disorder	Renal glucosuria	Autosomal recessive
SLC5A5	Endocrine Disorder	Thyroid dyshormonogenesis 1	Autosomal recessive
SLC6A1	Neurologic Disorder	Myoclonic-atonic epilepsy	Autosomal dominant
SLC6A19	Metabolic Disorder	Hartnup disorder	Autosomal recessive
SLC6A3	Neurodegenerative Disorder	Parkinsonism-dystonia, infantile	Autosomal recessive
SLC6A5	Neurologic Disorder	Hyperekplexia 3	Autosomal recessive
SLC6A8	Metabolic Disorder	Cerebral creatine deficiency syndrome 1	X-linked recessive
SLC7A7	Metabolic Disorder	Lysinuric protein intolerance	Autosomal recessive
SLC7A9	Kidney Disorder	Cystinuria	Autosomal recessive
SLC9A6	Neurologic Disorder	Christianson syndrome	X-linked
SLITRK6	Syndromic Disorder	Deafness and myopia	Autosomal recessive
SLURP1	Skin Disorder	Meleda disease	Autosomal recessive
SLX4	Hereditary Cancer	Fanconi anemia, complementation group P	Autosomal recessive
SMAD3	Syndromic Disorder	Loeys-Dietz syndrome 3	Autosomal dominant
SMAD4	Hereditary Cancer	Juvenile polyposis syndrome; Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Autosomal dominant
SMAD6	Cardiovascular Disorder	Aortic valve disease 2	Autosomal dominant
SMAD9	Cardiovascular Disorder	Pulmonary hypertension, primary, 2	Autosomal dominant
SMARCA2	Syndromic Disorder	Nicolaides-Baraitser syndrome	Autosomal dominant
SMARCA4	Hereditary Cancer	Rhabdoid tumor predisposition syndrome 2	Autosomal dominant
SMARCAL1	Musculoskeletal Disorder	Schimke immunoosseous dysplasia	Autosomal recessive
SMARCB1	Hereditary Cancer	Rhabdoid predisposition syndrome 1	Autosomal dominant
SMARCE1	Syndromic Disorder	Coffin-Siris syndrome 5; Meningioma, familial, susceptibility to	Autosomal dominant
SMC1A	Syndromic Disorder	Cornelia de Lange syndrome 2	X-linked dominant
SMC3	Syndromic Disorder	Cornelia de Lange syndrome 3	Autosomal dominant
SMN1	Neurologic Disorder	Spinal muscular atrophy-1; Spinal muscular atrophy-2; Spinal muscular atrophy-3; Spinal muscular atrophy-4	Autosomal recessive
SMPD1	Metabolic Disorder	Niemann-Pick disease, type A; Niemann-Pick disease, type B	Autosomal recessive
SMPX	Hearing Disorder	Hearing loss	X-linked dominant
SMS	Syndromic Disorder	Snyder-Robinson syndrome	X-linked recessive
SNAP29	Neurologic Disorder	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	Autosomal recessive
SNCA	Neurodegenerative Disorder	Parkinson disease 1; Parkinson disease 4	Autosomal dominant
SNRNP200	Vision Disorder	Retinitis pigmentosa 33	Autosomal dominant
SNTA1	Cardiovascular Disorder	Long QT syndrome 12	Autosomal dominant
SNX14	Neurologic Disorder	Spinocerebellar ataxia	Autosomal recessive
SOD1	Neurodegenerative Disorder	Amyotrophic lateral sclerosis 1	Autosomal dominant
SOS1	Syndromic Disorder	Noonan syndrome 4	Autosomal dominant
SOS2	Syndromic Disorder	Noonan syndrome 9	Autosomal dominant
SOST	Musculoskeletal Disorder	Sclerosteosis 1; Van Buchem disease	Autosomal recessive
SOX10	Syndromic Disorder	PCWH syndrome; Waardenburg syndrome, type 2E, with or without neurologic involvement; Waardenburg syndrome, type 4C	Autosomal dominant
SOX11	Syndromic Disorder	Coffin-Siris syndrome	Autosomal dominant
SOX17	Syndromic Disorder	Vesicoureteral reflux 3	Autosomal dominant
SOX2	Syndromic Disorder	Microphthalmia, syndromic 3; Optic nerve hypoplasia and abnormalities of the central nervous system	Autosomal dominant
SOX5	Neurologic Disorder	Lamb-Shaffer syndrome	Autosomal dominant
SOX9	Musculoskeletal Disorder	Campomelic dysplasia	Autosomal dominant
SP110	Immunological Disorder	Hepatic venoocclusive disease with immunodeficiency	Autosomal recessive
SPAG1	Respiratory Disorder	Ciliary dyskinesia, primary, 28	Autosomal recessive
SPART	Syndromic Disorder	Troyer syndrome	Autosomal recessive
SPAST	Neurologic Disorder	Spastic paraplegia 4, autosomal dominant	Autosomal dominant
SPATA5	Syndromic Disorder	Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities	Autosomal recessive
SPATA7	Vision Disorder	Leber congenital amaurosis 3	Autosomal recessive
SPG11	Neurologic Disorder	Spastic paraplegia	Autosomal recessive
SPG7	Neurologic Disorder	Spastic paraplegia type 7	Autosomal recessive
SPINK1	Gastrointestinal Disorder	Pancreatitis, hereditary; Tropical calcific pancreatitis	Autosomal recessive
SPINK5	Skin Disorder	Netherton syndrome	Autosomal recessive
SPR	Metabolic Disorder	Dystonia, dopa-responsive, due to sepiapterin reductase deficiency	Autosomal recessive
SPRED1	Syndromic Disorder	Legius syndrome	Autosomal dominant
SPTA1	Hematologic Disorder	Elliptocytosis-2	Autosomal dominant
SPTAN1	Neurologic Disorder	Epileptic encephalopathy, early infantile, 5	Autosomal dominant
SPTB	Hematologic Disorder	Elliptocytosis-3; Spherocytosis, type 2	Autosomal dominant
SPTBN2	Neurologic Disorder	Spinocerebellar ataxia 5	Autosomal dominant
SPTLC1	Neurologic Disorder	Neuropathy, hereditary sensory and autonomic, type IA	Autosomal dominant
SPTLC2	Neurologic Disorder	Neuropathy, hereditary sensory and autonomic, type IC	Autosomal dominant
SQSTM1	Syndromic Disorder	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3; Myopathy, distal, with rimmed vacuoles; Paget disease of bone 3	Autosomal dominant
SRCAP	Syndromic Disorder	Floating-Harbor syndrome	Autosomal dominant
SRD5A2	Endocrine Disorder	Pseudovaginal perineoscrotal hypospadias	Autosomal recessive
SRD5A3	Metabolic Disorder	Congenital disorder of glycosylation, type Iq; Kahrizi syndrome	Autosomal recessive
SSR4	Neurologic Disorder	Congenital disorder of glycosylation, type Iy	X-linked recessive
ST3GAL5	Metabolic Disorder	Salt and pepper developmental regression syndrome	Autosomal recessive
STAR	Endocrine Disorder	Lipoid adrenal hyperplasia	Autosomal recessive
STAT1	Immunological Disorder	Immunodeficiency 31A, mycobacteriosis, autosomal dominant	Autosomal dominant
STAT2	Immunological Disorder	Immunodeficiency 44	Autosomal recessive
STAT3	Immunological Disorder	Autoimmune disease, multisystem, infantile-onset, 1	Autosomal dominant
STAT3	Immunological Disorder	Hyper-IgE recurrent infection syndrome	Autosomal dominant
STAT5B	Immunological Disorder	Growth hormone insensitivity with immunodeficiency	Autosomal dominant
STIL	Syndromic Disorder	Microcephaly 7, primary, autosomal recessive	Autosomal recessive
STIM1	Immunological Disorder	Immunodeficiency 10	Autosomal recessive
STIM1	Musculoskeletal Disorder	Myopathy, tubular aggregate, 1	Autosomal dominant
STK11	Hereditary Cancer	Peutz-Jeghers syndrome	Autosomal dominant
STRA6	Syndromic Disorder	Microphthalmia, isolated, with coloboma 8; Microphthalmia, syndromic 9	Autosomal recessive
STRC	Hearing Disorder	Sensorineural hearing loss	Autosomal recessive
STS	Skin Disorder	Ichthyosis, X-linked	X-linked recessive
STUB1	Neurologic Disorder	Spinocerebellar ataxia	Autosomal recessive
STX11	Immunological Disorder	Hemophagocytic lymphohistiocytosis, familial, 4	Autosomal recessive
STX1B	Neurologic Disorder	Generalized epilepsy with febrile seizures plus, type 9	Autosomal dominant
STXBP1	Neurologic Disorder	Epileptic encephalopathy, early infantile, 4	Autosomal dominant
STXBP2	Immunological Disorder	Hemophagocytic lymphohistiocytosis, familial, 5	Autosomal recessive
SUCLA2	Metabolic Disorder	Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)	Autosomal recessive
SUFU	Hereditary Cancer	Basal cell nevus syndrome; Medulloblastoma, desmoplastic	Autosomal dominant
SUGCT	Metabolic Disorder	Glutaric aciduria III	Autosomal recessive
SUMF1	Metabolic Disorder	Multiple sulfatase deficiency	Autosomal recessive
SUOX	Syndromic Disorder	Sulfite oxidase deficiency	Autosomal recessive
SURF1	Syndromic Disorder	Charcot-Marie-Tooth disease, type 4K; Leigh syndrome, due to COX IV deficiency	Autosomal recessive
SYN1	Neurologic Disorder	X-linked epilepsy with learning disability and behavior disorder syndrome	X-linked recessive
SYNE1	Neurologic Disorder	Spinocerebellar ataxia	Autosomal recessive
SYNE2	Musculoskeletal Disorder	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	Autosomal dominant
SYNGAP1	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
SYNJ1	Neurodegenerative Disorder	Parkinson disease 20, early-onset	Autosomal recessive
SZT2	Neurologic Disorder	Epileptic encephalopathy, early infantile, 18	Autosomal recessive
TAB2	Cardiovascular Disorder	Congenital heart defects, nonsyndromic, 2	Autosomal dominant
TACR3	Endocrine Disorder	Hypogonadotropic hypogonadism 11 with or without anosmia	Autosomal recessive
TACSTD2	Vision Disorder	Corneal dystrophy, gelatinous drop-like	Autosomal recessive
TAFAZZIN	Syndromic Disorder	Barth syndrome	X-linked recessive
TALDO1	Metabolic Disorder	Transaldolase deficiency	Autosomal recessive
TANGO2	Metabolic Disorder	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	Autosomal recessive
TARDBP	Neurodegenerative Disorder	Amyotrophic lateral sclerosis 10, with or without FTD; Frontotemporal lobar degeneration, TARDBP-related	Autosomal dominant
TAT	Metabolic Disorder	Tyrosinemia, type II	Autosomal recessive
TBC1D24	Hearing Disorder	Deafness, autosomal dominant 65	Autosomal dominant
TBCE	Syndromic Disorder	Hypoparathyroidism-retardation-dysmorphism syndrome	Autosomal recessive
TBCK	Neurologic Disorder	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3	Autosomal recessive
TBX1	Syndromic Disorder	DiGeorge syndrome; Velocardiofacial syndrome	Autosomal dominant
TBX18	Kidney Disorder	Congenital anomalies of kidney and urinary tract 2	Autosomal dominant
TBX19	Endocrine Disorder	Adrenocorticotropic hormone deficiency	Autosomal recessive
TBX20	Cardiovascular Disorder	Atrial septal defect 4	Autosomal dominant
TBX4	Syndromic Disorder	Ischiocoxopodopatellar syndrome	Autosomal dominant
TBX5	Musculoskeletal Disorder	Holt-Oram syndrome	Autosomal dominant
TCAP	Musculoskeletal Disorder	Muscular dystrophy, limb-girdle, type 2G	Autosomal recessive
TCF12	Musculoskeletal Disorder	Craniosynostosis 3	Autosomal dominant
TCF4	Syndromic Disorder	Pitt-Hopkins syndrome	Autosomal dominant
TCIRG1	Musculoskeletal Disorder	Osteopetrosis, autosomal recessive 1	Autosomal recessive
TCN2	Metabolic Disorder	Transcobalamin II deficiency	Autosomal recessive
TCOF1	Musculoskeletal Disorder	Treacher Collins syndrome 1	Autosomal dominant
TCTN1	Syndromic Disorder	Joubert syndrome 13	Autosomal recessive
TCTN2	Syndromic Disorder	Joubert syndrome 24; Meckel syndrome 8	Autosomal recessive
TCTN3	Musculoskeletal Disorder	Orofaciodigital syndrome IV	Autosomal recessive
TDRD7	Vision Disorder	Cataract 36	Autosomal recessive
TECPR2	Neurologic Disorder	Hereditary spastic paraplegia	Autosomal recessive
TECRL	Cardiovascular Disorder	Ventricular tachycardia, catecholaminergic polymorphic, 3	Autosomal recessive
TECTA	Hearing Disorder	Sensorineural hearing loss	Autosomal dominant
TECTA	Hearing Disorder	Sensorineural hearing loss	Autosomal recessive
TEK	Syndromic Disorder	Primary congenital glaucoma	Autosomal dominant
TERT	Syndromic Disorder	Dyskeratosis congenita	Autosomal dominant
TF	Syndromic Disorder	Atransferrinemia	Autosomal recessive
TFAP2A	Syndromic Disorder	Branchiooculofacial syndrome	Autosomal dominant
TFAP2B	Cardiovascular Disorder	Char syndrome; Patent ductus arteriosus 2	Autosomal dominant
TFG	Neurodegenerative Disorder	Hereditary motor and sensory neuropathy, Okinawa type	Autosomal dominant
TFR2	Metabolic Disorder	Hemochromatosis, type 3	Autosomal recessive
TG	Endocrine Disorder	Thyroid dyshormonogenesis 3	Autosomal recessive
TGFB2	Syndromic Disorder	Loeys-Dietz syndrome 4	Autosomal dominant
TGFB3	Cardiovascular Disorder	Arrhythmogenic right ventricular dysplasia 1; Loeys-Dietz syndrome 5	Autosomal dominant
TGFBR1	Syndromic Disorder	Loeys-Dietz syndrome 1	Autosomal dominant
TGFBR2	Syndromic Disorder	Loeys-Dietz syndrome 2	Autosomal dominant
TGIF1	Syndromic Disorder	Holoprosencephaly 4	Autosomal dominant
TGM1	Skin Disorder	Congenital ichthyosis of skin	Autosomal recessive
TGM5	Skin Disorder	Peeling skin syndrome 2	Autosomal recessive
TGM6	Neurologic Disorder	Spinocerebellar ataxia 35	Autosomal dominant
TH	Neurologic Disorder	Segawa syndrome, recessive	Autosomal recessive
THBD	Hematologic Disorder	Thrombophilia due to thrombomodulin defect	Autosomal dominant
THPO	Hematologic Disorder	Thrombocythemia 1	Autosomal dominant
THRB	Endocrine Disorder	Thyroid hormone resistance; Thyroid hormone resistance, selective pituitary	Autosomal dominant
TIMM8A	Syndromic Disorder	Mohr-Tranebjaerg syndrome	X-linked recessive
TIMP3	Vision Disorder	Sorsby fundus dystrophy	Autosomal dominant
TINF2	Hereditary Cancer	Dyskeratosis congenita, autosomal dominant 3	Autosomal dominant
TJP2	Liver Disorder	Cholestasis, progressive familial intrahepatic 4; Hypercholanemia, familial	Autosomal recessive
TK2	Neurologic Disorder	Mitochondrial DNA depletion syndrome 2 (myopathic type)	Autosomal recessive
TLR7	Immunological Disorder	Systemic lupus erythematosus	X-linked dominant
TMC1	Hearing Disorder	Sensorineural hearing loss	Autosomal dominant; Autosomal recessive
TMC6	Skin Disorder	Epidermodysplasia verruciformis	Autosomal recessive
TMC8	Skin Disorder	Epidermodysplasia verruciformis	Autosomal recessive
TMCO1	Syndromic Disorder	Cerebro-facio-thoracic dysplasia	Autosomal recessive
TMEM127	Syndromic Disorder	Pheochromocytoma, susceptibility to	Autosomal dominant
TMEM138	Syndromic Disorder	Joubert syndrome 16	Autosomal recessive
TMEM216	Syndromic Disorder	Joubert syndrome 2	Autosomal recessive
TMEM231	Syndromic Disorder	Joubert syndrome 20; Meckel syndrome 11	Autosomal recessive
TMEM237	Syndromic Disorder	Joubert syndrome 14	Autosomal recessive
TMEM43	Cardiovascular Disorder	Arrhythmogenic right ventricular dysplasia 5	Autosomal dominant
TMEM67	Syndromic Disorder	Joubert syndrome 6	Autosomal recessive
TMEM70	Syndromic Disorder	Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2	Autosomal recessive
TMIE	Hearing Disorder	Hearing loss	Autosomal recessive
TMPRSS15	Gastrointestinal Disorder	Enterokinase deficiency	Autosomal recessive
TMPRSS3	Hearing Disorder	Hearing loss	Autosomal recessive
TMPRSS6	Hematologic Disorder	Iron-refractory iron deficiency anemia	Autosomal recessive
TNFAIP3	Immunological Disorder	Autoinflammatory syndrome, familial, Behcet-like	Autosomal dominant
TNFRSF11B	Musculoskeletal Disorder	Paget disease of bone 5, juvenile-onset	Autosomal recessive
TNFRSF13B	Immunological Disorder	Immunodeficiency, common variable, 2	Autosomal recessive
TNFRSF1A	Immunological Disorder	TNF receptor-associated periodic fever syndrome (TRAPS)	Autosomal dominant
TNFSF11	Syndromic Disorder	Osteopetrosis, autosomal recessive 2	Autosomal recessive
TNNC1	Cardiovascular Disorder	Cardiomyopathy, dilated, 1Z; Cardiomyopathy, hypertrophic, 13	Autosomal dominant
TNNI2	Musculoskeletal Disorder	Arthrogryposis multiplex congenita, distal, type 2B	Autosomal dominant
TNNI3	Cardiovascular Disorder	Cardiomyopathy, dilated, 1FF; Cardiomyopathy, hypertrophic, 7	Autosomal dominant
TNNI3K	Cardiovascular Disorder	Cardiac conduction disease with or without dilated cardiomyopathy	Autosomal dominant
TNNT1	Neurologic Disorder	Nemaline myopathy 5, Amish type	Autosomal recessive
TNNT2	Cardiovascular Disorder	Cardiomyopathy, dilated, 1D; Cardiomyopathy, hypertrophic, 2	Autosomal dominant
TNXB	Musculoskeletal Disorder	Ehlers-Danlos syndrome due to tenascin X deficiency	Autosomal recessive
TOPORS	Vision Disorder	Retinitis pigmentosa 31	Autosomal dominant (ClinGen; see note below)
TOR1A	Neurologic Disorder	Dystonia-1, torsion	Autosomal dominant
TP53	Hereditary Cancer	Li-Fraumeni syndrome	Autosomal dominant
TP63	Syndromic Disorder	ADULT syndrome; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3	Autosomal dominant
TPI1	Metabolic Disorder	Hemolytic anemia due to triosephosphate isomerase deficiency	Autosomal recessive
TPK1	Metabolic Disorder	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	Autosomal recessive
TPM1	Cardiovascular Disorder	Cardiomyopathy, dilated, 1Y; Cardiomyopathy, hypertrophic, 3	Autosomal dominant
TPM2	Musculoskeletal Disorder	Arthrogryposis multiplex congenita, distal, type 1; Arthrogryposis, distal, type 2B; CAP myopathy 2; Nemaline myopathy	Autosomal dominant
TPM3	Musculoskeletal Disorder	CAP myopathy 1; Myopathy, congenital, with fiber-type disproportion; Nemaline myopathy	Autosomal dominant
TPO	Endocrine Disorder	Thyroid dyshormonogenesis 2A	Autosomal recessive
TPP1	Neurologic Disorder	Ceroid lipofuscinosis, neuronal, 2	Autosomal recessive
TPRN	Hearing Disorder	Deafness, autosomal recessive 79	Autosomal recessive
TRAPPC2	Musculoskeletal Disorder	Spondyloepiphyseal dysplasia tarda	X-linked recessive
TRAPPC9	Neurologic Disorder	Intellectual functioning disability	Autosomal recessive
TRDN	Cardiovascular Disorder	Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness	Autosomal recessive
TREM2	Neurologic Disorder	Nasu-Hakola disease	Autosomal recessive
TREX1	Neurologic Disorder	Aicardi Goutieres syndrome	Autosomal recessive
TRHR	Endocrine Disorder	Central hypothyroidism	Autosomal recessive
TRIM32	Neurologic Disorder	Muscular dystrophy, limb-girdle, type 2H	Autosomal recessive
TRIM37	Syndromic Disorder	Mulibrey nanism	Autosomal recessive
TRIO	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
TRIOBP	Hearing Disorder	Sensorineural hearing loss	Autosomal recessive
TRIP11	Musculoskeletal Disorder	Achondrogenesis, type IA	Autosomal recessive
TRMT10A	Syndromic Disorder	Microcephaly, short stature, and impaired glucose metabolism 1	Autosomal recessive
TRMT5	Syndromic Disorder	Combined oxidative phosphorylation deficiency 26	Autosomal recessive
TRMU	Liver Disorder	Liver failure, transient infantile	Autosomal recessive
TRNT1	Syndromic Disorder	Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay	Autosomal recessive
TRPC6	Kidney Disorder	Glomerulosclerosis, focal segmental, 2	Autosomal dominant
TRPM1	Vision Disorder	Congenital stationary night blindness	Autosomal recessive
TRPM6	Endocrine Disorder	Hypomagnesemia 1, intestinal	Autosomal recessive
TRPS1	Musculoskeletal Disorder	Trichorhinophalangeal syndrome, type I; Trichorhinophalangeal syndrome, type III	Autosomal dominant
TRPV3	Skin Disorder	Olmsted syndrome	Autosomal dominant
TRPV4	Syndromic Disorder	Hereditary motor and sensory neuropathy, type IIc; Metatropic dysplasia; Spondylometaphyseal dysplasia, Kozlowski type	Autosomal dominant
TSC1	Hereditary Cancer	Tuberous sclerosis-1	Autosomal dominant
TSC2	Hereditary Cancer	Tuberous sclerosis-2	Autosomal dominant
TSEN2	Syndromic Disorder	Pontocerebellar hypoplasia type 2B	Autosomal recessive
TSEN54	Neurologic Disorder	Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 4	Autosomal recessive
TSFM	Syndromic Disorder	Combined oxidative phosphorylation deficiency 3	Autosomal recessive
TSHB	Endocrine Disorder	Hypothryoidism, congenital, nongoitrous 4	Autosomal recessive
TSHR	Endocrine Disorder	Congenital hypothyroidism	Autosomal dominant
TSHR	Endocrine Disorder	Congenital hypothyroidism	Autosomal recessive
TSPAN12	Vision Disorder	Exudative vitreoretinopathy 5	Autosomal dominant
TSPEAR	Syndromic Disorder	Deafness, autosomal recessive 98	Autosomal recessive
TSPYL1	Syndromic Disorder	Sudden infant death with dysgenesis of the testes syndrome	Autosomal recessive
TTBK2	Neurologic Disorder	Spinocerebellar ataxia 11	Autosomal dominant
TTC19	Syndromic Disorder	Mitochondrial complex III deficiency, nuclear type 2	Autosomal recessive
TTC21B	Syndromic Disorder	Nephronophthisis 12; Short-rib thoracic dysplasia 4 with or without polydactyly	Autosomal recessive
TTC7A	Syndromic Disorder	Gastrointestinal defects and immunodeficiency syndrome	Autosomal recessive
TTC8	Syndromic Disorder	Bardet-Biedl syndrome 8	Autosomal recessive
TTLL5	Vision Disorder	Cone-rod dystrophy 19	Autosomal recessive
TTN	Cardiovascular Disorder	Dilated cardiomyopathy; Hypertrophic cardiomyopathy	Autosomal dominant
TTPA	Neurologic Disorder	Ataxia with isolated vitamin E deficiency	Autosomal recessive
TTR	Neurologic Disorder	Amyloidosis, hereditary, transthyretin-related	Autosomal dominant
TUBA1A	Neurologic Disorder	Lissencephaly 3	Autosomal dominant
TUBB2B	Neurologic Disorder	Polymicrogyria, symmetric or asymmetric	Autosomal dominant
TULP1	Vision Disorder	Leber congenital amaurosis 15; Retinitis pigmentosa 14	Autosomal recessive
TWIST1	Syndromic Disorder	Saethre-Chotzen syndrome	Autosomal dominant
TWNK	Syndromic Disorder	Progressive external ophthalmoplegia	Autosomal dominant
TYK2	Immunological Disorder	Immunodeficiency 35	Autosomal recessive
TYMP	Syndromic Disorder	Mitochondrial DNA depletion syndrome 1 (MNGIE type)	Autosomal recessive
TYR	Syndromic Disorder	Albinism, oculocutaneous, type IA; Albinism, oculocutaneous, type IB	Autosomal recessive
TYROBP	Syndromic Disorder	Nasu-Hakola disease	Autosomal recessive
TYRP1	Syndromic Disorder	Albinism, oculocutaneous, type III	Autosomal recessive
UBE3A	Syndromic Disorder	Angelman syndrome	Autosomal dominant
UBE3B	Syndromic Disorder	Kaufman oculocerebrofacial syndrome	Autosomal recessive
UBR1	Syndromic Disorder	Johanson-Blizzard syndrome	Autosomal recessive
UCHL1	Neurologic Disorder	Spastic paraplegia 79, autosomal recessive	Autosomal recessive
UGT1A1	Liver Disorder	Crigler-Najjar syndrome, type I; Gilbert syndrome	Autosomal recessive
UNC13D	Immunological Disorder	Hemophagocytic lymphohistiocytosis, familial, 3	Autosomal recessive
UNC80	Neurologic Disorder	Hypotonia, infantile, with psychomotor retardation and characteristic facies 2	Autosomal recessive
UNG	Immunological Disorder	Immunodeficiency with hyper IgM, type 5	Autosomal recessive
UPB1	Metabolic Disorder	Beta-ureidopropionase deficiency	Autosomal recessive
UPF3B	Neurologic Disorder	Intellectual functioning disability	X-linked recessive
UQCRB	Metabolic Disorder	Mitochondrial complex III deficiency, nuclear type 3	Autosomal recessive
UROD	Hematologic Disorder	Porphyria cutanea tarda	Autosomal dominant
UROS	Hematologic Disorder	Porphyria, congenital erythropoietic	Autosomal recessive
USB1	Syndromic Disorder	Poikiloderma with neutropenia	Autosomal recessive
USH1C	Syndromic Disorder	Usher syndrome, type 1C	Autosomal recessive
USH1G	Syndromic Disorder	Usher syndrome, type 1G	Autosomal recessive
USH2A	Vision Disorder	Retinitis pigmentosa 39; Usher syndrome, type 2A	Autosomal recessive
USP9X	Neurologic Disorder	Intellectual functioning disability	X-linked dominant
UVSSA	Skin Disorder	UV-sensitive syndrome 3	Autosomal recessive
VAMP1	Neurodegenerative Disorder	Spastic ataxia 1, autosomal dominant	Autosomal dominant
VCAN	Vision Disorder	Wagner syndrome 1	Autosomal dominant
VCL	Cardiovascular Disorder	Cardiomyopathy, dilated, 1W; Cardiomyopathy, hypertrophic, 15	Autosomal dominant
VCP	Neurodegenerative Disorder	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1	Autosomal dominant
VDR	Musculoskeletal Disorder	Rickets, vitamin D-resistant, type IIA	Autosomal recessive
VHL	Hematologic Disorder	Erythrocytosis, familial, 2	Autosomal recessive
VHL	Hereditary Cancer	von Hippel-Lindau syndrome	Autosomal dominant
VIPAS39	Syndromic Disorder	Arthrogryposis, renal dysfunction, and cholestasis 2	Autosomal recessive
VLDLR	Neurologic Disorder	Cerebellar hypoplasia and intellectual deficit with or without quadrupedal locomotion 1	Autosomal recessive
VPS13A	Neurologic Disorder	Choreoacanthocytosis	Autosomal recessive
VPS13B	Syndromic Disorder	Cohen syndrome	Autosomal recessive
VPS13C	Neurodegenerative Disorder	Parkinson disease 23, autosomal recessive, early onset	Autosomal recessive
VPS33B	Syndromic Disorder	Arthrogryposis, renal dysfunction, and cholestasis 1	Autosomal recessive
VPS35	Neurologic Disorder	Parkinson disease 17	Autosomal dominant
VRK1	Syndromic Disorder	Pontocerebellar hypoplasia type 1A	Autosomal recessive
VSX2	Vision Disorder	Microphthalmia with coloboma 3; Microphthalmia, isolated 2	Autosomal recessive
VWF	Hematologic Disorder	von Willebrand disease, type 1; von Willebrand disease, types 2A, 2B, 2M, and 2N	Autosomal dominant
VWF	Hematologic Disorder	von Willebrand disease, types 2A, 2B, 2M, and 2N	Autosomal recessive
VWF	Hematologic Disorder	von Willebrand disease, types 2A, 2B, 2M, and 2N; von Willibrand disease, type 3	Autosomal recessive
WAC	Syndromic Disorder	Desanto-Shinawi syndrome	Autosomal dominant
WAS	Hematologic Disorder	Neutropenia, severe congenital, X-linked; Thrombocytopenia, X-linked; Wiskott-Aldrich syndrome	X-linked recessive
WDR19	Syndromic Disorder	Nephronophthisis 13; Senior-Loken syndrome 8	Autosomal recessive
WDR35	Syndromic Disorder	Cranioectodermal dysplasia 2; Short-rib thoracic dysplasia 7 with or without polydactyly	Autosomal recessive
WDR45	Neurodegenerative Disorder	Neurodegeneration with brain iron accumulation 5	X-linked dominant
WDR62	Neurologic Disorder	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	Autosomal recessive
WDR72	Dental Disorder	Amelogenesis imperfecta, type IIA3	Autosomal recessive
WDR73	Syndromic Disorder	Galloway-Mowat syndrome	Autosomal recessive
WFS1	Syndromic Disorder	Sensorineural hearing loss; Wolfram-like syndrome	Autosomal dominant
WFS1	Syndromic Disorder	Wolfram syndrome	Autosomal recessive
WFS1	Syndromic Disorder	Wolfram-like syndrome	Autosomal dominant
WHRN	Syndromic Disorder	Usher syndrome, type 2D	Autosomal recessive
WNT1	Syndromic Disorder	Osteogenesis imperfecta, type XV	Autosomal recessive
WNT10A	Skin Disorder	Odontoonychodermal dysplasia	Autosomal recessive
WNT5A	Syndromic Disorder	Robinow syndrome, autosomal dominant 1	Autosomal dominant
WNT7A	Musculoskeletal Disorder	Fuhrmann syndrome	Autosomal recessive
WRN	Syndromic Disorder	Werner syndrome	Autosomal recessive
WT1	Hereditary Cancer	Wilms tumor, type 1	Autosomal dominant
WWOX	Neurologic Disorder	Epileptic encephalopathy, early infantile, 28; Spinocerebellar ataxia	Autosomal recessive
XDH	Kidney Disorder	Xanthinuria, type I	Autosomal recessive
XIAP	Immunological Disorder	Lymphoproliferative syndrome, X-linked, 2	X-linked recessive
XPA	Skin Disorder	Xeroderma pigmentosum, group A	Autosomal recessive
XPC	Skin Disorder	Xeroderma pigmentosum, group C	Autosomal recessive
XPR1	Neurologic Disorder	Basal ganglia calcification, idiopathic, 6	Autosomal dominant
XRCC2	Hereditary Cancer	Breast cancer susceptibility	Autosomal dominant
XRCC3	Hereditary Cancer	Breast cancer, susceptibility to	Autosomal dominant
XRCC4	Syndromic Disorder	Short stature, microcephaly, and endocrine dysfunction	Autosomal recessive
YAP1	Syndromic Disorder	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or intellectual deficit	Autosomal dominant
YARS1	Neurologic Disorder	Charcot-Marie-Tooth disease, dominant intermediate C	Autosomal dominant
YARS2	Syndromic Disorder	Myopathy, lactic acidosis, and sideroblastic anemia 2	Autosomal recessive
ZAP70	Immunological Disorder	Autoimmune disease, multisystem, infantile-onset, 2; Immunodeficiency 48	Autosomal recessive
ZBTB24	Syndromic Disorder	Immunodeficiency-centromeric instability-facial anomalies syndrome-2	Autosomal recessive
ZC3H14	Syndromic Disorder	Intellectual developmental disorder, autosomal recessive 56	Autosomal recessive
ZEB2	Syndromic Disorder	Mowat-Wilson syndrome	Autosomal dominant
ZFPM2	Cardiovascular Disorder	Tetralogy of Fallot	Autosomal dominant
ZFYVE26	Neurologic Disorder	Spastic paraplegia type 15	Autosomal recessive
ZIC1	Musculoskeletal Disorder	Craniosynostosis 6	Autosomal dominant
ZIC2	Neurologic Disorder	Holoprosencephaly 5	Autosomal dominant
ZIC3	Syndromic Disorder	Congenital heart defects, nonsyndromic, 1, X-linked; VACTERL association, X-linked	X-linked recessive
ZMPSTE24	Skin Disorder	Restrictive dermopathy, lethal	Autosomal recessive
ZMYND10	Respiratory Disorder	Ciliary dyskinesia, primary, 22	Autosomal recessive
ZMYND11	Neurologic Disorder	Intellectual functioning disability	Autosomal dominant
ZNF469	Vision Disorder	Brittle cornea syndrome 1	Autosomal recessive
ZNF711	Neurologic Disorder	Intellectual functioning disability	X-linked

Coverage deserves a closer look. A gene listing does not establish complete variant coverage. For example, the planned SMN1 analysis covers selected small sequence changes and excludes large rearrangements; it is not comprehensive spinal muscular atrophy carrier screening. TOPORS-associated retinitis pigmentosa is listed as autosomal dominant based on ClinGen’s gene–disease curation. We confirm the final assay scope before ordering.

Understanding Inheritance Patterns · MedlinePlus ↗

02 / MEDICATION RESPONSE

Genetic Context for
a Prescribing Decision.

Pharmacogenomics studies how genetic differences can influence medication handling or response. A supported gene–medication relationship may help a prescriber consider drug selection, dosing, or adverse-effect risk. Kidney and liver function, other medications, age, and the treatment goal still matter.

A catalog entry is not a prescribing instruction. Evidence differs across gene–medication associations. A medication appearing below does not mean you should take, stop, or change it, or that genetic testing is recommended before every prescription. Your prescriber interprets the actual result using current labeling and applicable guidance.

Medication Associations

Use this list to locate medications and their listed gene or locus associations. The allele table that follows shows the technical reporting entries; it does not assign a medication or dose to an individual.

Medication & Gene / Locus Reference259 entries
Medication	Associated Gene / Locus
Abrocitinib (Cibinqo)	CYP2C19
Alirocumab (Praluent)	PCSK9
Alprazolam (Xanax)	CYP3A4
Amitriptyline (Elavil)	CYP2D6
Amlodipine (Norvasc)	CYP3A4
Amoxapine (Asendin)	CYP2D6
Amphetamine (Adderall)	CYP2D6
Arformoterol (Brovana)	CYP2C19
Arformoterol (Brovana)	CYP2D6
Arformoterol (Brovana)	UGT1A1
Aripiprazole (Abilify)	CYP2D6
Aripiprazole Lauroxil (Aristada)	CYP2D6
Atazanavir (Reyataz)	UGT1A1
Atomoxetine (Strattera)	CYP2D6
Atorvastatin (Lipitor)	CYP3A4
Atorvastatin (Lipitor)	SLCO1B1
Avatrombopag (Doptelet)	CYP2C9
Avatrombopag (Doptelet)	F2
Avatrombopag (Doptelet)	F5
Axitinib (Inlyta)	CYP3A4
Axitinib (Inlyta)	CYP3A5
Azathioprine (Imuran)	NUDT15
Azathioprine (Imuran)	TPMT
Belinostat (Beleodaq)	UGT1A1
Belzutifan (Welireg)	CYP2C19
Binimetinib (Mektovi)	UGT1A1
Brexpiprazole (Rexulti)	CYP2D6
Brivaracetam (Briviact)	CYP2C19
Bupivacaine (Marcaine)	G6PD
Bupropion (Wellbutrin)	CYP2D6
Buspirone (BuSpar)	CYP3A4
Cabotegravir (Apretude)	UGT1A1
Capecitabine (Xeloda)	DPYD
Cariprazine (Vraylar)	CYP3A4
Carisoprodol (Soma)	CYP2C19
Carvedilol (Coreg)	CYP2D6
Celecoxib (Celebrex)	CYP2C9
Cevimeline (Evoxac)	CYP2D6
Chloroprocaine (Nesacaine)	G6PD
Chlorpromazine (Thorazine)	CYP1A2
Chlorpropamide (Diabinese)	G6PD
Citalopram (Celexa)	CYP2C19
Clarithromycin (Biaxin)	CYP3A4
Clobazam (Onfi)	CYP2C19
Clomipramine (Anafranil)	CYP2D6
Clopidogrel (Plavix)	CYP2C19
Clozapine (Clozaril)	CYP1A2
Clozapine (Clozaril)	CYP2D6
Codeine (Codeine Sulfate)	CYP2D6
Cyclosporine (Neoral)	CYP3A4
Dabrafenib (Tafinlar)	G6PD
Dapsone (Aczone)	G6PD
Darifenacin (Enablex)	CYP2D6
Desflurane (Suprane)	CACNA1S
Desflurane (Suprane)	RYR1
Desipramine (Norpramin)	CYP2D6
Deuruxolitinib (Leqselvi)	CYP2C9
Deutetrabenazine (Austedo)	CYP2D6
Dexlansoprazole (Dexilant)	CYP2C19
Dextromethorphan (Robitussin)	CYP2D6
Diazepam (Valium)	CYP2C19
Diltiazem (Cardizem)	CYP3A4
Dolutegravir (Tivicay)	UGT1A1
Donepezil (Aricept)	CYP2D6
Doxepin (Silenor)	CYP2D6
Dronabinol (Marinol)	CYP2C9
Drospirenone (Slynd)	CYP2C19
Duloxetine (Cymbalta)	CYP2D6
Elagolix (Oriahnn)	SLCO1B1
Elexacaftor (Trikafta)	RS113993960
Eliglustat (Cerdelga)	CYP2D6
Eltrombopag (Promacta)	F5
Enflurane (Ethrane)	RYR1
Erdafitinib (Balversa)	CYP2C9
Erythromycin (Erythrocin)	CYP3A4
Escitalopram (Lexapro)	CYP2C19
Esomeprazole (Nexium)	CYP2C19
Etrasimod (Velsipity)	CYP2C9
Evolocumab (Repatha)	PCSK9
Felodipine (Plendil)	CYP3A4
Fentanyl (Sublimaze)	CYP3A4
Fesoterodine (Toviaz)	CYP2D6
Flibanserin (Addyi)	CYP2C19
Flibanserin (Addyi)	CYP3A4
Fluorouracil (Efudex)	DPYD
Fluoxetine (Prozac)	CYP2D6
Flurbiprofen (Ansaid)	CYP2C9
Flutamide (Eulexin)	G6PD
Fluvastatin (Lescol)	CYP2C9
Fluvastatin (Lescol)	SLCO1B1
Fluvoxamine (Luvox)	CYP2D6
Formoterol (Foradil)	CYP2C19
Formoterol (Foradil)	CYP2C9
Formoterol (Foradil)	CYP2D6
Formoterol (Foradil)	UGT1A1
Fosphenytoin (Cerebyx)	CYP2C9
Galantamine (Razadyne)	CYP2D6
Gefitinib (Iressa)	CYP2D6
Glimepiride (Amaryl)	G6PD
Glipizide (Glucotrol)	G6PD
Glyburide (Diabeta)	G6PD
Hydrocodone (Norco)	CYP2D6
Ibuprofen (Advil)	CYP2C9
Iloperidone (Fanapt)	CYP2D6
Imatinib (Gleevec)	CYP3A4
Imipramine (Tofranil)	CYP2D6
Inclisiran (Leqvio)	PCSK9
Indacaterol (Arcapta Neohaler)	UGT1A1
Indinavir (Crixivan)	CYP3A4
Irinotecan (Onivyde)	UGT1A1
Isoflurane (Forane)	CACNA1S
Isoflurane (Forane)	RYR1
Itraconazole (Sporanox)	CYP3A4
Ivacaftor (Kalydeco)	CFTR
Ketoconazole (Nizoral)	CYP3A4
Lacosamide (Vimpat)	CYP2C19
Lansoprazole (Prevacid)	CYP2C19
Lesinurad (Zurampic)	CYP2C9
Lidocaine (Xylocaine)	G6PD
Lofexidine (Lucemyra)	CYP2D6
Loratadine (Claritin)	CYP3A4
Lornoxicam (Xefo)	CYP2C9
Lovastatin (Mevacor)	CYP3A4
Lovastatin (Mevacor)	SLCO1B1
Lumacaftor (Orkambi)	RS113993960
Lusutrombopag (Mulpleta)	F2
Lusutrombopag (Mulpleta)	F5
Mafenide (Sulfamylon)	G6PD
Mavacamten (Camzyos)	CYP2C19
Meclizine (Antivert)	CYP2D6
Meloxicam (Vivlodex)	CYP2C9
Mepivacaine (Carbocaine)	G6PD
Mercaptopurine (Purinethol)	NUDT15
Mercaptopurine (Purinethol)	TPMT
Methoxyflurane (Penthrox)	RYR1
Methylene Blue (Provayblue)	G6PD
Metoclopramide (Reglan)	CYP2D6
Metoprolol (Lopressor)	CYP2D6
Midazolam (Versed)	CYP3A4
Mirabegron (Myrbetriq)	CYP2D6
Mivacurium (Mivacron)	BCHE
Modafinil (Provigil)	CYP2D6
Morphine (MS Contin)	OPRM1
Nalidixic Acid (NegGram)	G6PD
Nateglinide (Starlix)	CYP2C9
Nebivolol (Bystolic)	CYP2D6
Nefazodone (Serzone)	CYP3A4
Nelfinavir (Viracept)	CYP2C19
Nifedipine (Adalat)	CYP3A4
Nilotinib (Tasigna)	UGT1A1
Nitrofurantoin (Macrobid)	G6PD
Norelgestromin (Ortho Evra)	F5
Norfloxacin (Noroxin)	G6PD
Nortriptyline (Pamelor)	CYP2D6
Olanzapine (Zyprexa)	CYP1A2
Olanzapine (Zyprexa)	CYP2D6
Oliceridine (Olinvyk)	CYP2D6
Omeprazole (Prilosec)	CYP2C19
Ondansetron (Zofran)	CYP2D6
Ospemifene (Osphena)	CYP2C9
Oxycodone (Oxaydo)	CYP2D6
Paliperidone (Invega)	CYP2D6
Palonosetron (Aloxi)	CYP2D6
Palonosetron (Posfrea)	CYP2D6
Pantoprazole (Protonix)	CYP2C19
Paroxetine (Paxil)	CYP2D6
Pazopanib (Votrient)	UGT1A1
Peginterferon Alfa-2a (Pegasys)	IFNL3
Peginterferon Alfa-2b (Pegintron)	IFNL3
Pegloticase (Krystexxa)	G6PD
Perphenazine (Trilafon)	CYP2D6
Phenytoin (Dilantin)	CYP2C19
Phenytoin (Phenytek)	CYP2C9
Pimozide (Orap)	CYP2D6
Piroxicam (Feldene)	CYP2C9
Pitavastatin (Livalo)	SLCO1B1
Pitolisant (Wakix)	CYP2D6
Prasugrel (Effient)	CYP3A4
Pravastatin (Pravachol)	SLCO1B1
Primaquine (Primaquine Phosphate)	G6PD
Probenecid (Benemid)	G6PD
Propafenone (Rythmol)	CYP2D6
Propranolol (Hemangeol)	CYP2D6
Protriptyline (Vivactil)	CYP2D6
Quinidine (Cardioquin)	CYP2D6
Quinine (Qualaquin)	G6PD
Rabeprazole (AcipHex)	CYP2C19
Raltegravir (Isentress)	UGT1A1
Rasburicase (Elitek)	G6PD
Relugolix (Myfembree)	F5
Remibrutinib (Rhapsido)	CYP3A4
Ribavirin (Rebetol)	IFNL3
Rilpivirine (Edurant)	UGT1A1
Rimegepant (Nurtec ODT)	CYP2C9
Rimegepant (Nurtec ODT)	CYP3A4
Risperidone (Risperdal)	CYP2D6
Ritonavir (Norvir)	CYP3A4
Ropivacaine (Naropin)	G6PD
Rosuvastatin (Crestor)	ABCG2
Rosuvastatin (Crestor)	SLCO1B1
Rucaparib (Rubraca)	CYP2D6
Sacituzumab Govitecan-hziy (Trodelvy)	UGT1A1
Saquinavir (Invirase)	CYP3A4
Seladelpar (Livdelzi)	CYP2C9
Sertraline (Zoloft)	CYP2C19
Sevoflurane (Ultane)	CACNA1S
Sevoflurane (Ultane)	RYR1
Sildenafil (Viagra)	CYP3A4
Simvastatin (Zocor)	CYP3A4
Simvastatin (Zocor)	SLCO1B1
Siponimod (Mayzent)	CYP2C9
Sirolimus (Rapamune)	CYP3A4
Succinylcholine (Quelicin)	BCHE
Succinylcholine (Quelicin)	CACNA1S
Succinylcholine (Quelicin)	RYR1
Sulfadiazine (Lantrisul)	G6PD
Sulfasalazine (Azulfidine)	G6PD
Tacrolimus (Prograf)	CYP3A4
Tacrolimus (Prograf)	CYP3A5
Tafenoquine (Krintafel)	G6PD
Tamoxifen (Soltamox)	CYP2D6
Tamsulosin (Flomax)	CYP2D6
Tegafur (UFT)	DPYD
Tenoxicam (Mobiflex)	CYP2C9
Terbinafine (Lamisil)	CYP3A4
Tetrabenazine (Xenazine)	CYP2D6
Tetracaine (Tetcaine)	BCHE
Tezacaftor (Symdeko)	RS113993960
Thioguanine (Tabloid)	NUDT15
Thioguanine (Tabloid)	TPMT
Thioridazine (Mellaril)	CYP2D6
Ticagrelor (Brilinta)	CYP3A4
Tiotropium (Spiriva)	CYP2D6
Tizanidine (Zanaflex)	CYP1A2
Tolazamide (Tolinase)	G6PD
Tolterodine (Detrol)	CYP2D6
Toluidine Blue (TBO)	G6PD
Tramadol (Ultram)	CYP2D6
Triazolam (Halcion)	CYP3A4
Trimipramine (Surmontil)	CYP2D6
Tropisetron (Navoban)	CYP2D6
Umeclidinium (Incruse Ellipta)	CYP2D6
Upadacitinib (Rinvoq)	CYP3A4
Valbenazine (Ingrezza)	CYP2D6
Valproic Acid (Valproic)	POLG
Venlafaxine (Effexor)	CYP2D6
Verapamil (Calan)	CYP3A4
Viloxazine (Qelbree)	CYP2D6
Vonoprazan (Voquezna)	CYP2C19
Vonoprazan (Voquezna)	CYP2C9
Vonoprazan (Voquezna)	CYP2D6
Vonoprazan (Voquezna)	CYP3A4
Voriconazole (Vfend)	CYP2C19
Vortioxetine (Trintellix)	CYP2D6
Warfarin (Coumadin)	CYP2C9
Warfarin (Coumadin)	CYP4F2
Warfarin (Coumadin)	RS12777823
Warfarin (Coumadin)	VKORC1
Xanomeline (Cobenfy)	CYP2D6

Alleles, Variants & Functional Effects

A star allele, such as *2, is a named genetic pattern that can involve several linked variants. An rs identifier points to a variant record. A single rsID is not automatically equivalent to a complete star-allele result. The listed functional effect concerns the allele or variant entry, not your overall medication response.

Medication-Response Genes & Alleles59 entries
Gene / Locus	Listed Functional Effect	Alleles / Variants
ABCG2	Decreased function	rs2231142
BCHE	Decreased function	NM_000055.4:c.1685-2A>GNM_000055.4:c.1684+1G>TNM_000055.4:c.1584T>ANM_000055.4:c.1576C>TNM_000055.4:c.1528G>TNM_000055.4:c.1517+1G>TNM_000055.4:c.1497G>ANM_000055.4:c.1435G>TNM_000055.4:c.1427dupTNM_000055.4:c.1378G>TNM_000055.4:c.1372dupTNM_000055.4:c.1354C>TNM_000055.4:c.1284C>ANM_000055.2:c.1253G>TNM_000055.4:c.1240delCNM_000055.4:c.1222C>TNM_000055.4:c.1183G>TNM_000055.4:c.1158dupTNM_000055.4:c.1158delTNM_000055.4:c.1129G>TNM_000055.4:c.1073dupTNM_000055.4:c.1030C>TNM_000055.4:c.1027dupANM_000055.4:c.1021A>TNM_000055.4:c.1015C>TNM_000055.4:c.895G>TNM_000055.4:c.873T>ANM_000055.4:c.824_827dupCTAANM_000055.4:c.793delTNM_000055.4:c.757G>TNM_000055.4:c.687delANM_000055.4:c.666_667delCTNM_000055.4:c.662delCNM_000055.4:c.619C>TNM_000055.4:c.615G>ANM_000055.4:c.611delANM_000055.4:c.495_498delAAGANM_000055.4:c.493delGNM_000055.4:c.460_461delCANM_000055.4:c.439C>TNM_000055.2:c.435_436insGNM_000055.4:c.401dupANM_000055.4:c.352G>TNM_000055.4:c.295C>TNM_000055.4:c.206_207delTTNM_000055.4:c.149delGNM_000055.4:c.110delANM_000055.4:c.100delANM_000055.4:c.73A>TNM_000055.4:c.44G>A
CACNA1S	Variant-specific interpretation	rs550371466rs772130841rs1428157373rs1553248947rs201627041rs1660729290rs28930068rs28930069rs797045031rs1800559rs367983954rs80338777rs1558075630rs1322458975rs148317787rs772226819rs201998231rs1263658448rs374950276
CFTR	Decreased function	rs75527207rs267606723rs193922525rs80282562rs121909013rs74503330rs121909041rs121908755rs121908757rs78655421rs397508537rs397508513rs121909020rs200321110rs186045772rs75763344rs186089140rs77902683rs140883683rs386134230rs397508721rs77409459rs397508758rs397508678rs151048781rs77932196rs397508440rs142773283rs397508783rs397508378rs397508621rs121908768rs397508784rs121909016rs397508616rs397508744rs397508436rs397508602rs397508573rs144055758rs77834169rs397508572rs376008630rs397508300rs397508256rs121908752rs397508442rs75541969rs368505753rs141033578rs121908753rs74551128rs113993958rs121909005rs78769542rs202179988rs397508759rs397508288rs397508444rs2116683801rs397508761rs80224560rs76151804rs75039782
CYP1A2	No function	2427
CYP1A2	Decreased function	78
CYP1A2	Normal function	256121819*20
CYP1A2	Increased function	101314172223*30
CYP2C19	Uncertain function	121423293031323334394041
CYP2C19	No function	2345678222435
CYP2C19	Decreased function	91016192526
CYP2C19	Normal function	11113151828
CYP2C19	Increased function	*17
CYP2C9	Uncertain function	71017181920212227323436404147484951535456576364656667686970717273747576777879808182838485868788
CYP2C9	No function	3615243335394243455262
CYP2C9	Decreased function	24581112131416232628293031373844465055585960*61
CYP2C9	Normal function	*9
CYP2D6	Uncertain function	22232425262832374364657071727374758283848586878889909394959798102103104105106107108110111112113115116117118121123125126127128130131133134135136137138139140141142146149150151152153154155157158159160162163164165166167168169170171172173174175176177178179180181182183184185
CYP2D6	No function	345678111215192021313638424447515660626981929699100114120124129143144156161
CYP2D6	Decreased function	9101417294149505254555991109119132
CYP2D6	Normal function	2273334353945464853
CYP2D6	Amplification	2xN3xN4xN6xN7xN8xN9xN10xN11xN12xN14xN15xN17xN19xN20xN21xN22xN23xN24xN25xN26xN27xN28xN29xN31xN32xN33xN34xN35xN36xN37xN38xN39xN41xN42xN43xN44xN45xN46xN47xN48xN49xN50xN51xN52xN53xN54xN55xN56xN59xN60xN62xN64xN65xN69xN70xN71xN72xN73xN74xN75xN81xN82xN83xN84xN85xN86xN87xN88xN89xN90xN91xN92xN93xN94xN95xN96xN97xN98xN99xN100xN102xN103xN104xN105xN106xN107xN108xN109xN110xN111xN112xN113xN114xN115xN116xN117xN118xN119xN120xN121xN122xN123xN124xN125xN126xN127xN128xN129xN130xN131xN132xN133xN134xN135xN136xN137xN138xN139xN140xN141xN142xN143xN144xN146xN149xN150xN151xN152xN153xN154xN155xN156xN157xN158xN159xN160xN161xN162xN163xN164xN165xN166xN167xN168xN169xN170xN171xN172xN173xN174xN175xN176xN177xN178xN179xN180xN181xN182xN183xN184xN185xN
CYP2D6	No function hybrid	1368
CYP3A4	No function	*20
CYP3A4	Decreased function	*22
CYP3A5	Uncertain function	89
CYP3A5	No function	36*7
CYP4F2	Uncertain function	25678910111213141518202122*23
CYP4F2	No function	34
DPYD	No function	2A2B378101213rs72549310rs72549308rs72549307rs183385770rs143154602rs72549304rs111858276rs59086055rs138616379rs145773863rs137999090rs55674432rs141044036rs72547601NM_000110.3:c.2911dupArs1057516968rs1057516357rs749571474rs1553201476NM_000110.3:c.966C>ANM_000110.3:c.812delTrs146170505NM_000110.3:c.464T>Ars1193078195rs746368304NM_000110.3:c.237C>ANM_000110.3:c.101delArs1057516894rs1057517230rs1553212596rs1057516873rs1057517327rs1057517271rs1057516828rs759372918rs1553251907rs1064796552rs1057517396rs1057517055rs1440380546rs1057516710rs1057516388rs1057516671rs764584080rs1057517018rs1057516615rs779948148rs1057516761rs1057517189rs755031341rs1553197926rs1553201443rs1057516711rs1220608789rs1057516997rs672601289rs776692894rs141597515
DPYD	Decreased function	rs67376798rs75017182rs115232898rs146356975rs186169810rs112766203rs746991079NM_000110.3:c.1740+2T>Crs1300669537rs377221676rs1057517095rs769167857rs1057517126rs1057516713rs1057516696rs1057517065rs867460475rs1057516763rs1057516356rs1553247675rs1057516405NM_000110.4:c.895C>TNM_000110.4:c.997G>TNM_000110.4:c.2650G>T
DPYD	Normal function	4569A
F2	Decreased function	rs1799963
F5	Decreased function	rs6025
G6PD	I/Deficient with CNSHA	202A_376G_1264GAachenAlhambraAmiensAmsterdamArakawaAsahikawaAveiroBangkokBangkok NoiBariBeverly HillsBrightonBuenos AiresCalvo MackennaCampinasChikugoCincinnatiCleveland CorumClinicCovao do LoboDurhamFiguera da FozFukayaGeorgiaGuadalajaraHarilaouHarimaHartfordHoniaraIowaIwatsukiJapanKawasakiKozukataKrakowLa JollaLilleLoma LindaLynwoodMadridManhattanMinnesotaMontpellierMt SinaiMunichNashvilleNorth DallasOlomoucOmiyaPedoplis CkaroPiotrkowPlymouthPrahaPuerto LimonRehevotRileyRiversideSantiagoSantiago de CubaSerresShinshuStonybrookSugaoSumareSunderlandSuwalkiSwanseaTeltiTenriTokyoTomahTorunTsukuiUrayasuUtrechtVancouverVilleurbanneVolendamWayneWest VirginiaWexhamWisconsin
G6PD	II/Deficient	AbenoAcrokorinthosAmazoniaAnadiaAnanindeuaAndalusBao LocBelemCairoCantonCassanoChathamChinese1Coimbra ShundeCosenzaCostanzoCrispimFarroupilhaFloresFushanHaikouHechiHermoupolisIerapetraKaipingKamogawaLiuzhouLudhianaMediterraneanMiaoliMizushimaNamouruNankangNaoneNilgiriOsakaPartenopePawneeRadlowoRoubaixS.AntiocoSanta MariaSeoulShenzenSongklanagarindSurabayaTaipeiToledoUnionValladolidVanua LavaViangchan
G6PD	III/Deficient	202A_376GAsahiAuresBajo MaumereChinese5680T_376G968C_376GNiceGaoheGuangzhouHammersmithIleshaKalyan KeralaKambosKamiubeLagesLagosantoMahidolMalagaMetapontoMexico CityMontalbanoMurcia OristanoMusashinoNanningNeapolisOrissaPalestrinaQuing YanRignanoSalerno PyrgosSeattleSibariSinnaiSplitUbe Konan
G6PD	IV/Normal	AInsuliMira d'AireSao Borja
IFNL3	Decreased function	rs12979860
NUDT15	Uncertain function	111215162021
NUDT15	No function	346791013141718*19
NUDT15	Decreased function	58
OPRM1	Decreased function	rs1799971
PCSK9	Decreased function	rs564427867rs28942111rs794728683rs28942112rs137852912rs1553135971
POLG	Decreased function	rs1555453538rs1332921412NM_002693.2:c.3514_3517dupGACTrs201732356rs796052887rs1447799185rs1057518035rs1567184117NM_002693.2:c.421delCNM_002693.2:c.3518T>Ars1567191094rs1567188632rs778429780rs796052906rs113994094rs113994096rs1057517803rs1567187326rs753160398rs1555452461rs1335880349rs796052907rs1596348470rs1131691575rs1555452453rs1057517891NM_002693.2:c.3136G>Trs139590686rs1567186613rs1596360430rs763393580NM_002693.2:c.1754G>Ars776031396rs1567185775rs121918056rs1064793800rs144500145rs774768199rs1567192203rs139562274NM_002693.2:c.2772delGrs1567192884rs1567187103rs121918044rs1596359384rs1064793493rs1567185770rs121918054rs796052888rs1254855971rs867038717rs1064794214NM_002693.2:c.2842dupArs1596348339rs778573169rs761649878rs1567188588rs1567185026rs1085307741rs1567192879rs1567185048rs1555452607rs767709505rs113994095rs375305567rs796052908rs763418954NM_002693.2:c.3482+2T>Crs1567191417rs886043241rs1283198587NM_002693.2:c.1251-2A>Trs1596350117NM_002693.2:c.2894T>GNM_002693.2:c.3595dupArs960142425rs1596348443rs548076633rs1555453824rs1021719232rs778115255rs1596352762rs1596350386rs751376824rs769410130rs113994097rs769827124rs1596352895rs202039305NM_002693.2:c.2544dupCNM_002693.2:c.3626_3629dupGATArs1064794735rs1567185603rs796052919rs121918047rs1567187745rs886041592rs1596348547NM_002693.2:c.2354dupGrs747632869NM_002693.2:c.1356T>Grs139717885rs113994101rs765916932NM_002693.2:c.3630C>Grs1567193844NM_002693.2:c.1171-1G>Crs771623994rs1064794213rs267606959rs113994098NM_002693.2:c.1170+1G>ANM_002693.2:c.229delCNM_002693.2:c.1846delGrs796052899rs796052884rs775445970NM_002693.2:c.1585+2T>Grs920850257NM_002693.2:c.3576_3580dupAGTGArs2055345819rs780379693NM_002693.2:c.2690G>Ars767138032NM_002693.2:c.3570delGNM_002693.2:c.2753G>ANM_002693.2:c.268C>TNM_002693.2:c.3326dupTNM_002693.2:c.3619delGNM_002693.2:c.1783_1786dupCAGANM_002693.2:c.2894_2897delTACTNM_002693.2:c.1128_1129delGTNM_002693.2:c.1783C>TNM_002693.2:c.3104+1G>TNM_002693.2:c.2070+2T>CNM_002693.2:c.624C>ANM_002693.2:c.287delGNM_002693.2:c.1035G>Ars113994096NM_002693.2:c.3268_3269insTNM_002693.2:c.1950-2A>GNM_002693.2:c.2266-1G>ANM_002693.2:c.3002delGNM_002693.2:c.229C>TNM_002693.2:c.2004delGrs2055342899NM_002693.2:c.846C>GNM_002693.2:c.3304C>Trs121918048rs2055626123NM_002693.2:c.2779delArs2055536585NM_002693.2:c.659+1G>TNM_002693.2:c.660-2A>Grs2055505065rs755552597rs780953863rs1326779034rs1468115538rs1567187837rs775260762rs1252078081rs752172363rs753410045rs1567188178rs775576189rs2055358006rs2055503614rs121918049rs1319481399rs1483201828rs368435864rs1465650547NM_002693.2:c.2923C>Trs750514687rs56047213rs2055524549rs1567183122rs1567186614rs1442498340rs2055625602rs761664802rs121918051rs2055309922rs767708989rs138917386rs113994099rs781311846rs2055531147rs142347031rs1253517114
RS113993960	Decreased function	rs113993960
RS12777823	Decreased function	rs12777823
RYR1	Variant-specific interpretation	rs193922744rs193922746rs193922747rs193922748rs193922750rs118192161rs193922753rs193922757NM_000540.3:c.533A>Grs1801086rs193922762rs121918592rs193922764rs193922766NM_000540.3:c.1202G>Trs118192162rs111888148rs193922768rs193922769NM_000540.3:c.1615T>Grs113812662rs193922770rs118192172rs193922772NM_000540.3:c.3166G>Crs193922781rs193922788rs117886618rs118192175rs118192163NM_000540.3:c.6488G>Trs118192176rs141646642rs118192177rs193922792rs193922797rs112563513NM_000540.3:c.7035C>Ars193922799rs193922800rs193922801rs193922802NM_000540.3:c.7060G>Ars193922803rs1387126664rs762401851rs193922805NM_000540.3:c.7123G>Ars193922807rs193922809rs193922810rs121918593rs28933396rs193922812rs118192124rs118192123rs193922816rs118192122rs28933397rs121918594NM_000540.3:c.7373G>Trs118192178rs193922818rs914804033rs193922826rs193922832rs193922839rs148399313rs193922843rs193922844rs193922852NM_000540.3:c.12700G>Trs193922867rs193922868rs121918595rs193922876rs193922878NM_000540.3:c.14539G>Crs118192168rs113210953NM_000540.3:c.14803G>Ars146876145
SLCO1B1	Uncertain function	246810111619242526272829303233343640424344505152535455565758
SLCO1B1	No function	59152331394147
SLCO1B1	Normal function	*37
SLCO1B1	Increased function	1420
TPMT	Uncertain function	912192430323536*40
TPMT	No function	23A3B3C4567101113141516171820212223252627282931333437383941424344454647
TPMT	Decreased function	*8
UGT1A1	Uncertain function	*80
UGT1A1	Decreased function	627283780_2880_37rs34993780NM_000463.3:c.72dupGrs587776765NM_000463.3:c.164dupANM_000463.3:c.210delCrs72551340NM_000463.3:c.234_237dupGTACNM_000463.3:c.239_245delCTGTGCCrs797046090rs1575773272NM_000463.3:c.266_267delAANM_000463.3:c.269_270delAGNM_000463.3:c.319C>Trs748219743NM_000463.3:c.359_360delCTNM_000463.3:c.380_381insGGNM_000463.3:c.389dupTrs587776763NM_000463.3:c.488_491dupACCTNM_000463.3:c.492_493delGTrs773292758rs72551341NM_000463.3:c.558C>Ars1205477836NM_000463.3:c.576C>GNM_000463.3:c.582delCrs1697605792rs766536479rs72551343NM_000463.3:c.652dupTNM_000463.3:c.679dupTrs797046091rs1697640076NM_000463.3:c.725delTrs1412278754NM_000463.3:c.749delCNM_000463.3:c.801delCrs281865418rs1160983011rs587776764NM_000463.3:c.864+1G>Trs772088902rs1285708223NM_000463.3:c.931delGNM_000463.3:c.973delGrs372326047rs111033539NM_000463.3:c.996+2_996+5delTAAGNM_000463.3:c.996+1G>Ars1559414567rs1699508733rs139607673rs72551349rs144978321rs745655794NM_000463.3:c.1047delGNM_000463.3:c.1069dupCrs72551350rs587784535rs587776766rs1283652721NM_000463.3:c.1186delGrs558109660rs758192306rs1443955511NM_000463.3:c.1270G>TNM_000463.3:c.1304+1G>Trs1212085876rs72551357NM_000463.3:c.1382G>ANM_000463.3:c.1448G>Ars866632307NM_000463.3:c.1489delGrs72551361rs770564267
UGT1A1	Increased function	*36
VKORC1	Decreased function	rs9923231

Some entries are variant loci rather than gene symbols. Technical notation is shown as a reference. CACNA1S and RYR1 findings require variant-specific clinical interpretation. Variant calling, structural variation, and the final laboratory interpretation determine what can be reported.

FDA Pharmacogenetic Associations ↗ · CPIC Prescribing Guidelines ↗

03 / POLYGENIC RISK

Many Variants.
One Model-Specific Estimate.

A polygenic score combines many genetic variants associated with a condition or measurable trait. It adds a genetic perspective to an assessment; it does not capture the full effect of age, lifestyle, family history, or current health. The study population, ancestry applicability, and model validation affect interpretation.

A score, percentile, or risk category is not automatically a lifetime probability of disease. The models below include both conditions and traits. A cholesterol model, for example, does not replace measuring cholesterol in your blood.

Polygenic Models & Traits31 entries
Model / Trait	Listed Variant Entries	Research Publications
Age-Related Macular Degeneration	46	26691988
Alzheimer's Disease	20	24162737
Asthma	17	29273806
Atrial Fibrillation	82	29892015
Basal Cell Carcinoma	29	27539887
Bladder Cancer	12	24163127
Breast Cancer	151	29059683
Celiac Disease	56	22057235 · 20190752
Chronic Lymphocytic Leukemia	37	28165464
Colorectal Cancer	29	29917119
COPD	22	28166215
Coronary Artery Disease	41	26343387
Dupuytren's disease	25	28886342
Endometriosis	19	28537267
Gout	29	23263486
HDL Cholesterol	311	30275531
Inflammatory Bowel Disease	231	26192919 · 28067908
LDL Cholesterol	218	30275531
Melanoma	13	28212542
Multiple Sclerosis	102	26343388 · 24076602
Pancreatic Cancer	22	29422604
Parkinson's Disease	46	28892059
Prostate Cancer	138	29892016
Rheumatoid Arthritis	94	24390342
Schizophrenia	160	29483656
Thyroid Cancer	10	28195142
Total Cholesterol	225	30275531
Triglycerides	249	30275531
Type 2 Diabetes	47	28566273
Uterine Fibroids	21	30194396
Venous Thromboembolism	10	28373160

Inside the Model

Listed Allele: The DNA version used in the model. It is not necessarily harmful; interpretation depends on the model and outcome.
Weight / Beta: A model coefficient, not a percentage chance of disease. Its scale and direction cannot be compared freely across different models.
PubMed ID: A link to a research publication. A citation supports investigation of an association, not clinical usefulness for every patient.

Technical reference, not a risk calculator. These variant entries document the planned models. Clinical scoring also depends on the correct model version, genome build, allele orientation, genotype quality, missing-data handling, and validation. Adding these numbers yourself does not produce a clinically interpretable risk estimate.

Filter by Model

Polygenic Variant Reference2,512 entries
Model / Trait	Variant	Listed Allele	Weight / Beta	PubMed ID
Age-Related Macular Degeneration	rs2070895	G	0.1484	26691988
Age-Related Macular Degeneration	rs8135665	T	0.131	26691988
Age-Related Macular Degeneration	rs11884770	C	0.0862	26691988
Age-Related Macular Degeneration	rs5754227	T	0.2311	26691988
Age-Related Macular Degeneration	rs142450006	TTTTC	0.174	26691988
Age-Related Macular Degeneration	rs1142	T	0.131	26691988
Age-Related Macular Degeneration	rs55975637	A	0.1484	26691988
Age-Related Macular Degeneration	rs35292876	T	0.4318	26691988
Age-Related Macular Degeneration	rs140647181	C	0.6152	26691988
Age-Related Macular Degeneration	rs2043085	C	0.1398	26691988
Age-Related Macular Degeneration	rs12019136	G	0.3001	26691988
Age-Related Macular Degeneration	rs5817082	C	0.1398	26691988
Age-Related Macular Degeneration	rs144629244	A	1.026	26691988
Age-Related Macular Degeneration	rs62247658	C	0.131	26691988
Age-Related Macular Degeneration	rs17231506	T	0.1044	26691988
Age-Related Macular Degeneration	rs141853578	T	1.6332	26691988
Age-Related Macular Degeneration	rs148553336	T	1.1694	26691988
Age-Related Macular Degeneration	rs3750846	C	1.075	26691988
Age-Related Macular Degeneration	rs7803454	T	0.1398	26691988
Age-Related Macular Degeneration	rs12357257	A	0.1133	26691988
Age-Related Macular Degeneration	rs9564692	C	0.1044	26691988
Age-Related Macular Degeneration	rs6565597	T	0.1133	26691988
Age-Related Macular Degeneration	rs429358	T	0.3988	26691988
Age-Related Macular Degeneration	rs2230199	G	0.3853	26691988
Age-Related Macular Degeneration	rs11080055	C	0.0862	26691988
Age-Related Macular Degeneration	rs2740488	A	0.1133	26691988
Age-Related Macular Degeneration	rs570618	T	0.5539	26691988
Age-Related Macular Degeneration	rs3138141	A	0.1655	26691988
Age-Related Macular Degeneration	rs1626340	G	0.131	26691988
Age-Related Macular Degeneration	rs10781182	T	0.1133	26691988
Age-Related Macular Degeneration	rs10033900	T	0.1398	26691988
Age-Related Macular Degeneration	rs943080	T	0.1398	26691988
Age-Related Macular Degeneration	rs147859257	G	1.1694	26691988
Age-Related Macular Degeneration	rs71507014	G	0.1044	26691988
Age-Related Macular Degeneration	rs73036519	G	0.0953	26691988
Age-Related Macular Degeneration	rs10922109	C	0.6729	26691988
Age-Related Macular Degeneration	rs62358361	T	0.5128	26691988
Age-Related Macular Degeneration	rs2842339	G	0.1655	26691988
Age-Related Macular Degeneration	rs79037040	T	0.1133	26691988
Age-Related Macular Degeneration	rs61941274	A	0.47	26691988
Age-Related Macular Degeneration	rs114092250	G	0.3436	26691988
Age-Related Macular Degeneration	rs116503776	G	0.6729	26691988
Age-Related Macular Degeneration	rs191281603	C	0.892	26691988
Age-Related Macular Degeneration	rs121913059	T	3.8635	26691988
Age-Related Macular Degeneration	rs114254831	G	0.1222	26691988
Age-Related Macular Degeneration	rs72802342	C	0.239	26691988
Alzheimer's Disease	rs429358	C	1.2892	24162737
Alzheimer's Disease	rs7274581	T	0.1275	24162737
Alzheimer's Disease	rs28834970	C	0.0953	24162737
Alzheimer's Disease	rs10838725	C	0.077	24162737
Alzheimer's Disease	rs11771145	G	0.1053	24162737
Alzheimer's Disease	rs10498633	G	0.0944	24162737
Alzheimer's Disease	rs983392	A	0.1053	24162737
Alzheimer's Disease	rs9331896	T	0.151	24162737
Alzheimer's Disease	rs35349669	T	0.077	24162737
Alzheimer's Disease	rs17125944	C	0.131	24162737
Alzheimer's Disease	rs11218343	T	0.2616	24162737
Alzheimer's Disease	rs4147929	A	0.1398	24162737
Alzheimer's Disease	rs10948363	G	0.0953	24162737
Alzheimer's Disease	rs6733839	T	0.1989	24162737
Alzheimer's Disease	rs6656401	A	0.1655	24162737
Alzheimer's Disease	rs1476679	T	0.0944	24162737
Alzheimer's Disease	rs10792832	G	0.1389	24162737
Alzheimer's Disease	rs9271192	C	0.1044	24162737
Alzheimer's Disease	rs2718058	A	0.0723	24162737
Alzheimer's Disease	rs190982	A	0.0723	24162737
Asthma	rs12543811	G	0.0723	29273806
Asthma	rs7927894	T	0.0953	29273806
Asthma	rs2033784	G	0.1044	29273806
Asthma	rs20541	A	0.116	29273806
Asthma	rs1233578	G	0.1044	29273806
Asthma	rs2952156	A	0.1484	29273806
Asthma	rs17806299	G	0.1044	29273806
Asthma	rs2855812	T	0.0953	29273806
Asthma	rs992969	A	0.1625	29273806
Asthma	rs10455025	C	0.1398	29273806
Asthma	rs7705042	A	0.077	29273806
Asthma	rs17637472	A	0.077	29273806
Asthma	rs1420101	T	0.1133	29273806
Asthma	rs11071558	A	0.1165	29273806
Asthma	rs2325291	G	0.0943	29273806
Asthma	rs2589561	A	0.1044	29273806
Asthma	rs167769	T	0.077	29273806
Atrial Fibrillation	rs332388	C	0.0488	29892015
Atrial Fibrillation	rs3960788	C	0.0488	29892015
Atrial Fibrillation	rs716845	A	0.0488	29892015
Atrial Fibrillation	rs117984853	T	0.1133	29892015
Atrial Fibrillation	rs951366	C	0.0488	29892015
Atrial Fibrillation	rs503706	T	0.0953	29892015
Atrial Fibrillation	rs7919685	G	0.0583	29892015
Atrial Fibrillation	rs174048	C	0.0677	29892015
Atrial Fibrillation	rs2145587	A	0.0677	29892015
Atrial Fibrillation	rs146311723	C	0.0583	29892015
Atrial Fibrillation	rs76097649	A	0.131	29892015
Atrial Fibrillation	rs6847935	T	0.392	29892015
Atrial Fibrillation	rs4484922	G	0.0677	29892015
Atrial Fibrillation	rs7770062	G	0.1044	29892015
Atrial Fibrillation	rs56181519	C	0.077	29892015
Atrial Fibrillation	rs11264280	T	0.131	29892015
Atrial Fibrillation	rs4355822	A	0.0488	29892015
Atrial Fibrillation	rs72926475	G	0.077	29892015
Atrial Fibrillation	rs3789967	T	0.0488	29892015
Atrial Fibrillation	rs6546553	C	0.0677	29892015
Atrial Fibrillation	rs295114	C	0.0677	29892015
Atrial Fibrillation	rs55734480	A	0.0583	29892015
Atrial Fibrillation	rs7578393	T	0.0677	29892015
Atrial Fibrillation	rs12908437	T	0.0488	29892015
Atrial Fibrillation	rs12810346	T	0.0677	29892015
Atrial Fibrillation	rs7650482	G	0.077	29892015
Atrial Fibrillation	rs10520260	A	0.0488	29892015
Atrial Fibrillation	rs72700114	C	0.1989	29892015
Atrial Fibrillation	rs9953366	C	0.0488	29892015
Atrial Fibrillation	rs6998692	T	0.0862	29892015
Atrial Fibrillation	rs2359171	A	0.1823	29892015
Atrial Fibrillation	rs146518726	A	0.1655	29892015
Atrial Fibrillation	rs11180703	G	0.0392	29892015
Atrial Fibrillation	rs78332318	T	0.131	29892015
Atrial Fibrillation	rs2288327	G	0.1044	29892015
Atrial Fibrillation	rs2145274	A	0.1044	29892015
Atrial Fibrillation	rs6462078	A	0.0583	29892015
Atrial Fibrillation	rs6891790	G	0.0677	29892015
Atrial Fibrillation	rs9481842	G	0.0677	29892015
Atrial Fibrillation	rs34969716	A	0.0862	29892015
Atrial Fibrillation	rs2441380	C	0.0488	29892015
Atrial Fibrillation	rs2860482	A	0.0488	29892015
Atrial Fibrillation	rs8181996	G	0.0488	29892015
Atrial Fibrillation	rs2834618	T	0.1044	29892015
Atrial Fibrillation	rs10842383	C	0.1044	29892015
Atrial Fibrillation	rs762624	A	0.0583	29892015
Atrial Fibrillation	rs868155	C	0.0677	29892015
Atrial Fibrillation	rs79187193	G	0.1133	29892015
Atrial Fibrillation	rs12809354	C	0.0862	29892015
Atrial Fibrillation	rs6480708	C	0.1133	29892015
Atrial Fibrillation	rs10786662	G	0.0488	29892015
Atrial Fibrillation	rs7026071	T	0.0953	29892015
Atrial Fibrillation	rs7987944	C	0.0583	29892015
Atrial Fibrillation	rs7789146	G	0.0677	29892015
Atrial Fibrillation	rs7172038	G	0.1044	29892015
Atrial Fibrillation	rs73228543	G	0.0677	29892015
Atrial Fibrillation	rs3844438	T	0.0488	29892015
Atrial Fibrillation	rs11773845	A	0.1133	29892015
Atrial Fibrillation	rs10027347	T	0.1133	29892015
Atrial Fibrillation	rs1443926	A	0.0488	29892015
Atrial Fibrillation	rs2723064	T	0.0677	29892015
Atrial Fibrillation	rs883079	T	0.1133	29892015
Atrial Fibrillation	rs4590732	C	0.0677	29892015
Atrial Fibrillation	rs28631169	T	0.077	29892015
Atrial Fibrillation	rs6790396	G	0.0583	29892015
Atrial Fibrillation	rs4855074	T	0.0677	29892015
Atrial Fibrillation	rs11598047	G	0.1484	29892015
Atrial Fibrillation	rs9675122	C	0.0583	29892015
Atrial Fibrillation	rs7508	A	0.077	29892015
Atrial Fibrillation	rs12908004	G	0.077	29892015
Atrial Fibrillation	rs30252	T	0.0677	29892015
Atrial Fibrillation	rs7632427	T	0.0488	29892015
Atrial Fibrillation	rs55754224	T	0.0488	29892015
Atrial Fibrillation	rs76774446	A	0.0677	29892015
Atrial Fibrillation	rs2625322	A	0.0677	29892015
Atrial Fibrillation	rs11773884	A	0.0488	29892015
Atrial Fibrillation	rs2738413	A	0.077	29892015
Atrial Fibrillation	rs465276	G	0.0488	29892015
Atrial Fibrillation	rs35349325	T	0.0583	29892015
Atrial Fibrillation	rs10479177	G	0.0953	29892015
Atrial Fibrillation	rs187585530	A	0.4383	29892015
Atrial Fibrillation	rs113819537	C	0.0488	29892015
Basal Cell Carcinoma	rs10425559	G	0.077	27539887
Basal Cell Carcinoma	rs73183643	G	0.1054	27539887
Basal Cell Carcinoma	rs12916300	T	0.1398	27539887
Basal Cell Carcinoma	rs141115006	C	0.131	27539887
Basal Cell Carcinoma	rs2116709	A	0.1054	27539887
Basal Cell Carcinoma	rs73635312	G	0.174	27539887
Basal Cell Carcinoma	rs2294214	C	0.0677	27539887
Basal Cell Carcinoma	rs2080303	T	0.1222	27539887
Basal Cell Carcinoma	rs12210050	T	0.2231	27539887
Basal Cell Carcinoma	rs11993814	C	0.0862	27539887
Basal Cell Carcinoma	rs61824911	G	0.1044	27539887
Basal Cell Carcinoma	rs7776701	C	0.0583	27539887
Basal Cell Carcinoma	rs214785	C	0.174	27539887
Basal Cell Carcinoma	rs12203592	T	0.392	27539887
Basal Cell Carcinoma	rs6059655	A	0.2151	27539887
Basal Cell Carcinoma	rs78378222	G	0.3436	27539887
Basal Cell Carcinoma	rs10093547	G	0.1989	27539887
Basal Cell Carcinoma	rs2776353	A	0.0953	27539887
Basal Cell Carcinoma	rs9267650	T	0.157	27539887
Basal Cell Carcinoma	rs9275642	C	0.1165	27539887
Basal Cell Carcinoma	rs10810657	A	0.1054	27539887
Basal Cell Carcinoma	rs1805007	T	0.3365	27539887
Basal Cell Carcinoma	rs35407	G	0.4637	27539887
Basal Cell Carcinoma	rs57142672	G	0.1222	27539887
Basal Cell Carcinoma	rs1126809	A	0.1133	27539887
Basal Cell Carcinoma	rs11170164	T	0.174	27539887
Basal Cell Carcinoma	rs4710154	T	0.077	27539887
Basal Cell Carcinoma	rs7907606	G	0.0953	27539887
Basal Cell Carcinoma	rs421284	T	0.1044	27539887
Bladder Cancer	rs9642880	T	0.2151	24163127
Bladder Cancer	rs11892031	A	0.157	24163127
Bladder Cancer	rs401681	C	0.1133	24163127
Bladder Cancer	rs10775480	T	0.1222	24163127
Bladder Cancer	rs1014971	T	0.1222	24163127
Bladder Cancer	rs710521	T	0.131	24163127
Bladder Cancer	rs907611	A	0.1398	24163127
Bladder Cancer	rs1495741	A	0.131	24163127
Bladder Cancer	rs10936599	C	0.1625	24163127
Bladder Cancer	rs8102137	C	0.1222	24163127
Bladder Cancer	rs798766	T	0.1989	24163127
Bladder Cancer	rs2204008	T	0.1222	24163127
Breast Cancer	rs3817198	C	0.0488	29059683
Breast Cancer	rs3819405	C	0.0408	29059683
Breast Cancer	rs1550623	A	0.0513	29059683
Breast Cancer	rs1436904	T	0.0513	29059683
Breast Cancer	rs78269692	C	0.0862	29059683
Breast Cancer	rs704010	T	0.0677	29059683
Breast Cancer	rs11552449	T	0.0392	29059683
Breast Cancer	rs4849887	C	0.0943	29059683
Breast Cancer	rs13066793	A	0.0619	29059683
Breast Cancer	rs4442975	G	0.1165	29059683
Breast Cancer	rs4808801	A	0.0726	29059683
Breast Cancer	rs514192	A	0.0488	29059683
Breast Cancer	rs10995201	A	0.1054	29059683
Breast Cancer	rs10623258	CTT	0.0392	29059683
Breast Cancer	rs3903072	G	0.0305	29059683
Breast Cancer	rs4562056	T	0.0488	29059683
Breast Cancer	rs13281615	G	0.1044	29059683
Breast Cancer	rs10718573	TA	0.0392	29059683
Breast Cancer	rs58847541	A	0.077	29059683
Breast Cancer	rs13294895	T	0.0583	29059683
Breast Cancer	rs79724016	T	0.0726	29059683
Breast Cancer	rs16857609	T	0.0583	29059683
Breast Cancer	rs13365225	A	0.0943	29059683
Breast Cancer	rs6597981	G	0.0408	29059683
Breast Cancer	rs554219	G	0.1906	29059683
Breast Cancer	rs1830298	C	0.0583	29059683
Breast Cancer	rs6805189	T	0.0305	29059683
Breast Cancer	rs67397200	G	0.0296	29059683
Breast Cancer	rs146699004	GGT	0.0305	29059683
Breast Cancer	rs6122906	G	0.0488	29059683
Breast Cancer	rs11627032	T	0.0408	29059683
Breast Cancer	rs10472076	C	0.0296	29059683
Breast Cancer	rs745570	A	0.0296	29059683
Breast Cancer	rs72755295	G	0.1398	29059683
Breast Cancer	rs10022462	T	0.0392	29059683
Breast Cancer	rs4973768	T	0.1044	29059683
Breast Cancer	rs10760444	G	0.0296	29059683
Breast Cancer	rs6562760	G	0.0513	29059683
Breast Cancer	rs17426269	A	0.0488	29059683
Breast Cancer	rs1292011	A	0.0834	29059683
Breast Cancer	rs12405132	G	0.0305	29059683
Breast Cancer	rs6596100	C	0.0619	29059683
Breast Cancer	rs12479355	A	0.0408	29059683
Breast Cancer	rs2432539	A	0.0296	29059683
Breast Cancer	rs16991615	A	0.0953	29059683
Breast Cancer	rs7297051	C	0.1165	29059683
Breast Cancer	rs113577745	G	0.077	29059683
Breast Cancer	rs6762644	G	0.0488	29059683
Breast Cancer	rs13329835	G	0.0677	29059683
Breast Cancer	rs3215401	A	0.0726	29059683
Breast Cancer	rs1432679	C	0.077	29059683
Breast Cancer	rs4784227	T	0.207	29059683
Breast Cancer	rs72826962	T	0.1823	29059683
Breast Cancer	rs77528541	G	0.0513	29059683
Breast Cancer	rs6472903	T	0.0619	29059683
Breast Cancer	rs527616	G	0.0305	29059683
Breast Cancer	rs17817449	T	0.0513	29059683
Breast Cancer	rs11075995	A	0.0296	29059683
Breast Cancer	rs2823093	G	0.0619	29059683
Breast Cancer	rs7707921	A	0.0408	29059683
Breast Cancer	rs75915166	A	0.2469	29059683
Breast Cancer	rs11199914	C	0.0408	29059683
Breast Cancer	rs1053338	G	0.0488	29059683
Breast Cancer	rs11977670	A	0.0583	29059683
Breast Cancer	rs2965183	A	0.0392	29059683
Breast Cancer	rs11820646	C	0.0408	29059683
Breast Cancer	rs71801447	C	0.0862	29059683
Breast Cancer	rs2588809	T	0.0583	29059683
Breast Cancer	rs9833888	T	0.0583	29059683
Breast Cancer	rs4593472	C	0.0305	29059683
Breast Cancer	rs10816625	G	0.1044	29059683
Breast Cancer	rs4496150	C	0.0408	29059683
Breast Cancer	rs7072776	A	0.0488	29059683
Breast Cancer	rs6828523	C	0.0943	29059683
Breast Cancer	rs10069690	T	0.0583	29059683
Breast Cancer	rs35951924	A	0.0513	29059683
Breast Cancer	rs11780156	T	0.0488	29059683
Breast Cancer	rs12710696	T	0.0296	29059683
Breast Cancer	rs12546444	A	0.0726	29059683
Breast Cancer	rs616488	A	0.0619	29059683
Breast Cancer	rs17529111	C	0.0198	29059683
Breast Cancer	rs10941679	G	0.1398	29059683
Breast Cancer	rs1353747	T	0.0408	29059683
Breast Cancer	rs1707302	G	0.0408	29059683
Breast Cancer	rs6507583	A	0.0834	29059683
Breast Cancer	rs738321	C	0.0513	29059683
Breast Cancer	rs3760982	A	0.0488	29059683
Breast Cancer	rs676256	T	0.0943	29059683
Breast Cancer	rs62355902	T	0.1655	29059683
Breast Cancer	rs73161324	T	0.0583	29059683
Breast Cancer	rs2236007	G	0.0726	29059683
Breast Cancer	rs6964587	T	0.0296	29059683
Breast Cancer	rs2747652	C	0.0619	29059683
Breast Cancer	rs17356907	A	0.0943	29059683
Breast Cancer	rs2594714	G	0.0305	29059683
Breast Cancer	rs34005590	C	0.1985	29059683
Breast Cancer	rs206966	T	0.0488	29059683
Breast Cancer	rs11571833	T	0.3001	29059683
Breast Cancer	rs941764	G	0.0296	29059683
Breast Cancer	rs6569648	T	0.0619	29059683
Breast Cancer	rs9397437	A	0.157	29059683
Breast Cancer	rs11814448	C	0.1133	29059683
Breast Cancer	rs6001930	C	0.1133	29059683
Breast Cancer	rs117618124	T	0.1165	29059683
Breast Cancer	rs1011970	T	0.0677	29059683
Breast Cancer	rs6725517	A	0.0408	29059683
Breast Cancer	rs2290203	G	0.0619	29059683
Breast Cancer	rs12628403	C	0.0953	29059683
Breast Cancer	rs2016394	G	0.0513	29059683
Breast Cancer	rs6796502	G	0.0834	29059683
Breast Cancer	rs7971	A	0.0408	29059683
Breast Cancer	rs28539243	A	0.0488	29059683
Breast Cancer	rs71559437	G	0.0726	29059683
Breast Cancer	rs72749841	T	0.0726	29059683
Breast Cancer	rs2981578	C	0.207	29059683
Breast Cancer	rs9693444	A	0.0583	29059683
Breast Cancer	rs71338792	AT	0.0488	29059683
Breast Cancer	rs10474352	C	0.0619	29059683
Breast Cancer	rs2943559	G	0.0953	29059683
Breast Cancer	rs13267382	A	0.0296	29059683
Breast Cancer	rs9257408	C	0.0198	29059683
Breast Cancer	rs12207986	A	0.0305	29059683
Breast Cancer	rs4233486	T	0.0305	29059683
Breast Cancer	rs17879961	G	0.2311	29059683
Breast Cancer	rs58058861	A	0.0583	29059683
Breast Cancer	rs132390	C	0.0392	29059683
Breast Cancer	rs12493607	C	0.0488	29059683
Breast Cancer	rs3757322	G	0.077	29059683
Breast Cancer	rs35383942	T	0.1133	29059683
Breast Cancer	rs28512361	A	0.0488	29059683
Breast Cancer	rs2223621	T	0.0392	29059683
Breast Cancer	rs11249433	G	0.1044	29059683
Breast Cancer	rs17156577	C	0.0488	29059683
Breast Cancer	rs7529522	C	0.0583	29059683
Breast Cancer	rs12422552	C	0.0583	29059683
Breast Cancer	rs7904519	G	0.0296	29059683
Breast Cancer	rs4971059	A	0.0488	29059683
Breast Cancer	rs999737	C	0.0943	29059683
Breast Cancer	rs2992756	T	0.0583	29059683
Breast Cancer	rs204247	G	0.0392	29059683
Breast Cancer	rs35054928	GC	0.239	29059683
Breast Cancer	rs1895062	A	0.0619	29059683
Breast Cancer	rs45631563	A	0.2107	29059683
Breast Cancer	rs720475	G	0.0408	29059683
Breast Cancer	rs2787486	A	0.0726	29059683
Breast Cancer	rs9790517	T	0.0392	29059683
Breast Cancer	rs11117758	G	0.0513	29059683
Breast Cancer	rs34207738	C	0.0583	29059683
Breast Cancer	rs10759243	A	0.0583	29059683
Breast Cancer	rs17268829	C	0.0488	29059683
Breast Cancer	rs6815814	C	0.0583	29059683
Celiac Disease	rs6441991	A	0.1484	22057235 · 20190752
Celiac Disease	rs4445406	T	0.1393	22057235 · 20190752
Celiac Disease	rs13132308	A	0.3425	22057235 · 20190752
Celiac Disease	rs2030519	A	0.2744	22057235 · 20190752
Celiac Disease	rs1359062	G	0.2614	22057235 · 20190752
Celiac Disease	rs1353248	C	0.1278	22057235 · 20190752
Celiac Disease	rs10167650	T	0.0862	22057235 · 20190752
Celiac Disease	rs79758729	G	0.1655	22057235 · 20190752
Celiac Disease	rs2187668	T	1.8294	22057235 · 20190752
Celiac Disease	rs1893592	A	0.1278	22057235 · 20190752
Celiac Disease	rs12068671	T	0.1508	22057235 · 20190752
Celiac Disease	rs72975916	C	0.0953	22057235 · 20190752
Celiac Disease	rs2561288	T	0.1133	22057235 · 20190752
Celiac Disease	rs9673543	G	0.0953	22057235 · 20190752
Celiac Disease	rs80073729	A	0.5306	22057235 · 20190752
Celiac Disease	rs1018326	C	0.1484	22057235 · 20190752
Celiac Disease	rs7753008	C	0.0953	22057235 · 20190752
Celiac Disease	rs6752770	G	0.0953	22057235 · 20190752
Celiac Disease	rs1250552	A	0.1508	22057235 · 20190752
Celiac Disease	rs12998748	G	0.1044	22057235 · 20190752
Celiac Disease	rs2387397	C	0.1278	22057235 · 20190752
Celiac Disease	rs7616215	C	0.1133	22057235 · 20190752
Celiac Disease	rs76830965	A	0.3075	22057235 · 20190752
Celiac Disease	rs72734930	A	0.207	22057235 · 20190752
Celiac Disease	rs182429	A	0.1484	22057235 · 20190752
Celiac Disease	rs13003464	G	0.157	22057235 · 20190752
Celiac Disease	rs10800746	C	0.1133	22057235 · 20190752
Celiac Disease	rs12203592	C	0.0953	22057235 · 20190752
Celiac Disease	rs12142280	T	0.1393	22057235 · 20190752
Celiac Disease	rs77027760	G	0.1278	22057235 · 20190752
Celiac Disease	rs62097857	A	0.1823	22057235 · 20190752
Celiac Disease	rs1050976	C	0.1165	22057235 · 20190752
Celiac Disease	rs243323	A	0.0862	22057235 · 20190752
Celiac Disease	rs61579022	A	0.1044	22057235 · 20190752
Celiac Disease	rs4678523	C	0.1044	22057235 · 20190752
Celiac Disease	rs10207814	T	0.1823	22057235 · 20190752
Celiac Disease	rs17264332	G	0.2546	22057235 · 20190752
Celiac Disease	rs2097282	C	0.1823	22057235 · 20190752
Celiac Disease	rs13397	A	0.1655	22057235 · 20190752
Celiac Disease	rs10808568	A	0.0953	22057235 · 20190752
Celiac Disease	rs55743914	T	0.1906	22057235 · 20190752
Celiac Disease	rs61907765	T	0.1655	22057235 · 20190752
Celiac Disease	rs34037980	A	0.0953	22057235 · 20190752
Celiac Disease	rs6715106	A	0.2357	22057235 · 20190752
Celiac Disease	rs10892258	G	0.1508	22057235 · 20190752
Celiac Disease	rs1107943	C	0.1655	22057235 · 20190752
Celiac Disease	rs1980422	C	0.174	22057235 · 20190752
Celiac Disease	rs11875687	C	0.157	22057235 · 20190752
Celiac Disease	rs7104791	T	0.1484	22057235 · 20190752
Celiac Disease	rs72657048	G	0.0834	22057235 · 20190752
Celiac Disease	rs1378938	A	0.1222	22057235 · 20190752
Celiac Disease	rs990171	A	0.1823	22057235 · 20190752
Celiac Disease	rs4821124	C	0.1484	22057235 · 20190752
Celiac Disease	rs62323881	A	0.1398	22057235 · 20190752
Celiac Disease	rs3184504	C	0.174	22057235 · 20190752
Celiac Disease	rs11851414	C	0.1222	22057235 · 20190752
Chronic Lymphocytic Leukemia	rs2651823	A	0.1655	28165464
Chronic Lymphocytic Leukemia	rs7558911	A	0.1655	28165464
Chronic Lymphocytic Leukemia	rs71597109	C	0.157	28165464
Chronic Lymphocytic Leukemia	rs9271176	G	0.2546	28165464
Chronic Lymphocytic Leukemia	rs58055674	C	0.3436	28165464
Chronic Lymphocytic Leukemia	rs3755397	G	0.2776	28165464
Chronic Lymphocytic Leukemia	rs34004493	G	0.3293	28165464
Chronic Lymphocytic Leukemia	rs1036935	A	0.1398	28165464
Chronic Lymphocytic Leukemia	rs391855	A	0.2927	28165464
Chronic Lymphocytic Leukemia	rs35923643	G	0.4886	28165464
Chronic Lymphocytic Leukemia	rs6489882	G	0.1484	28165464
Chronic Lymphocytic Leukemia	rs2466029	G	0.207	28165464
Chronic Lymphocytic Leukemia	rs210143	C	0.2311	28165464
Chronic Lymphocytic Leukemia	rs7705526	A	0.1655	28165464
Chronic Lymphocytic Leukemia	rs6586163	A	0.207	28165464
Chronic Lymphocytic Leukemia	rs61904987	T	0.2151	28165464
Chronic Lymphocytic Leukemia	rs140522	T	0.1398	28165464
Chronic Lymphocytic Leukemia	rs4368253	C	0.157	28165464
Chronic Lymphocytic Leukemia	rs4869818	G	0.1398	28165464
Chronic Lymphocytic Leukemia	rs1317082	A	0.174	28165464
Chronic Lymphocytic Leukemia	rs8024033	C	0.2311	28165464
Chronic Lymphocytic Leukemia	rs874460	C	0.2151	28165464
Chronic Lymphocytic Leukemia	rs11637565	G	0.3001	28165464
Chronic Lymphocytic Leukemia	rs2267708	T	0.1484	28165464
Chronic Lymphocytic Leukemia	rs1679013	C	0.1484	28165464
Chronic Lymphocytic Leukemia	rs7254272	A	0.157	28165464
Chronic Lymphocytic Leukemia	rs77551289	A	0.3148	28165464
Chronic Lymphocytic Leukemia	rs9880772	A	0.1484	28165464
Chronic Lymphocytic Leukemia	rs7690934	C	0.1484	28165464
Chronic Lymphocytic Leukemia	rs2511713	G	0.157	28165464
Chronic Lymphocytic Leukemia	rs41271473	G	0.174	28165464
Chronic Lymphocytic Leukemia	rs57214277	T	0.1222	28165464
Chronic Lymphocytic Leukemia	rs142215530	G	0.3293	28165464
Chronic Lymphocytic Leukemia	rs888096	A	0.1398	28165464
Chronic Lymphocytic Leukemia	rs9392504	A	0.2852	28165464
Chronic Lymphocytic Leukemia	rs34676223	C	0.174	28165464
Chronic Lymphocytic Leukemia	rs3800461	C	0.1823	28165464
Colorectal Cancer	rs1370821	T	0.0677	29917119
Colorectal Cancer	rs1035209	T	0.0862	29917119
Colorectal Cancer	rs704017	G	0.0726	29917119
Colorectal Cancer	rs4939827	T	0.131	29917119
Colorectal Cancer	rs73376930	G	0.1278	29917119
Colorectal Cancer	rs1535	A	0.0677	29917119
Colorectal Cancer	rs2427308	C	0.1165	29917119
Colorectal Cancer	rs62404968	C	0.0862	29917119
Colorectal Cancer	rs10411210	C	0.0943	29917119
Colorectal Cancer	rs16892766	C	0.1985	29917119
Colorectal Cancer	rs6687758	G	0.0834	29917119
Colorectal Cancer	rs4444235	C	0.0726	29917119
Colorectal Cancer	rs4813802	G	0.0726	29917119
Colorectal Cancer	rs3184504	C	0.0726	29917119
Colorectal Cancer	rs6906359	C	0.1044	29917119
Colorectal Cancer	rs11255841	T	0.0943	29917119
Colorectal Cancer	rs2696839	G	0.0583	29917119
Colorectal Cancer	rs35360328	A	0.1222	29917119
Colorectal Cancer	rs6983267	G	0.1278	29917119
Colorectal Cancer	rs3217810	T	0.1398	29917119
Colorectal Cancer	rs3824999	G	0.0726	29917119
Colorectal Cancer	rs10911251	A	0.0677	29917119
Colorectal Cancer	rs961253	A	0.077	29917119
Colorectal Cancer	rs17094983	G	0.1054	29917119
Colorectal Cancer	rs58791712	GT	0.0943	29917119
Colorectal Cancer	rs2735940	G	0.0834	29917119
Colorectal Cancer	rs10994860	C	0.0862	29917119
Colorectal Cancer	rs72013726	C	0.077	29917119
Colorectal Cancer	rs3802842	C	0.1165	29917119
COPD	rs11727735	A	0.2231	28166215
COPD	rs10429950	T	0.1044	28166215
COPD	rs13141641	T	0.1989	28166215
COPD	rs754388	C	0.1044	28166215
COPD	rs7186831	A	0.1133	28166215
COPD	rs721917	G	0.077	28166215
COPD	rs2076295	T	0.0583	28166215
COPD	rs7733088	G	0.1655	28166215
COPD	rs17707300	C	0.0611	28166215
COPD	rs1441358	G	0.1222	28166215
COPD	rs6837671	G	0.0677	28166215
COPD	rs16825267	C	0.1222	28166215
COPD	rs9399401	T	0.157	28166215
COPD	rs2955083	A	0.1655	28166215
COPD	rs2047409	A	0.131	28166215
COPD	rs17486278	C	0.1222	28166215
COPD	rs2806356	C	0.1133	28166215
COPD	rs12459249	C	0.077	28166215
COPD	rs113897301	AT	0.1222	28166215
COPD	rs1529672	C	0.0488	28166215
COPD	rs647097	C	0.0862	28166215
COPD	rs2070600	C	0.1906	28166215
Coronary Artery Disease	rs11206510	T	0.077	26343387
Coronary Artery Disease	rs4420638	G	0.0953	26343387
Coronary Artery Disease	rs2128739	A	0.0677	26343387
Coronary Artery Disease	rs7528419	A	0.1133	26343387
Coronary Artery Disease	rs11830157	G	0.1133	26343387
Coronary Artery Disease	rs4593108	C	0.0677	26343387
Coronary Artery Disease	rs72689147	G	0.0677	26343387
Coronary Artery Disease	rs17678683	G	0.0953	26343387
Coronary Artery Disease	rs3184504	T	0.0677	26343387
Coronary Artery Disease	rs4252185	C	0.2927	26343387
Coronary Artery Disease	rs56336142	T	0.0677	26343387
Coronary Artery Disease	rs17087335	T	0.0583	26343387
Coronary Artery Disease	rs3918226	T	0.131	26343387
Coronary Artery Disease	rs515135	C	0.0677	26343387
Coronary Artery Disease	rs56289821	G	0.131	26343387
Coronary Artery Disease	rs180803	G	0.1823	26343387
Coronary Artery Disease	rs9349379	G	0.131	26343387
Coronary Artery Disease	rs1412444	T	0.0677	26343387
Coronary Artery Disease	rs10139550	G	0.0583	26343387
Coronary Artery Disease	rs4468572	C	0.077	26343387
Coronary Artery Disease	rs28451064	A	0.131	26343387
Coronary Artery Disease	rs9970807	C	0.1222	26343387
Coronary Artery Disease	rs8042271	G	0.0953	26343387
Coronary Artery Disease	rs56062135	C	0.0677	26343387
Coronary Artery Disease	rs12976411	A	0.4008	26343387
Coronary Artery Disease	rs11838776	A	0.0677	26343387
Coronary Artery Disease	rs7568458	A	0.0583	26343387
Coronary Artery Disease	rs16986953	A	0.0862	26343387
Coronary Artery Disease	rs11191416	T	0.077	26343387
Coronary Artery Disease	rs663129	A	0.0583	26343387
Coronary Artery Disease	rs55730499	T	0.3148	26343387
Coronary Artery Disease	rs2107595	A	0.077	26343387
Coronary Artery Disease	rs6689306	A	0.0583	26343387
Coronary Artery Disease	rs2487928	A	0.0583	26343387
Coronary Artery Disease	rs2891168	G	0.1906	26343387
Coronary Artery Disease	rs1870634	G	0.077	26343387
Coronary Artery Disease	rs12202017	A	0.0677	26343387
Coronary Artery Disease	rs6725887	C	0.131	26343387
Coronary Artery Disease	rs10840293	A	0.0583	26343387
Coronary Artery Disease	rs11556924	C	0.077	26343387
Coronary Artery Disease	rs2681472	G	0.077	26343387
Dupuytren's disease	rs7838717	T	0.1672	28886342
Dupuytren's disease	rs1509406	G	0.1519	28886342
Dupuytren's disease	rs1032466	A	0.2009	28886342
Dupuytren's disease	rs9951109	T	0.1985	28886342
Dupuytren's disease	rs394563	G	0.1887	28886342
Dupuytren's disease	rs629535	T	0.3053	28886342
Dupuytren's disease	rs1042704	A	0.2303	28886342
Dupuytren's disease	rs16879765	T	0.6297	28886342
Dupuytren's disease	rs6496519	C	0.2345	28886342
Dupuytren's disease	rs9525927	A	0.1827	28886342
Dupuytren's disease	rs977987	G	0.1363	28886342
Dupuytren's disease	rs7291412	T	0.2531	28886342
Dupuytren's disease	rs7524102	G	0.3008	28886342
Dupuytren's disease	rs6016142	T	0.2445	28886342
Dupuytren's disease	rs38904	C	0.2255	28886342
Dupuytren's disease	rs10866846	A	0.174	28886342
Dupuytren's disease	rs17433710	T	0.207	28886342
Dupuytren's disease	rs2912522	A	0.3065	28886342
Dupuytren's disease	rs12342106	A	0.2546	28886342
Dupuytren's disease	rs10276303	C	0.1924	28886342
Dupuytren's disease	rs2598107	T	0.39	28886342
Dupuytren's disease	rs611744	A	0.2614	28886342
Dupuytren's disease	rs246105	C	0.2311	28886342
Dupuytren's disease	rs2306022	T	0.2429	28886342
Dupuytren's disease	rs6102095	G	0.2904	28886342
Endometriosis	rs71575922	G	0.1044	28537267
Endometriosis	rs6546324	A	0.077	28537267
Endometriosis	rs12700667	A	0.077	28537267
Endometriosis	rs17803970	A	0.1398	28537267
Endometriosis	rs1903068	A	0.1044	28537267
Endometriosis	rs11674184	T	0.1133	28537267
Endometriosis	rs77294520	C	0.1484	28537267
Endometriosis	rs1448792	G	0.0862	28537267
Endometriosis	rs10167914	G	0.1044	28537267
Endometriosis	rs760794	T	0.077	28537267
Endometriosis	rs1250241	T	0.0583	28537267
Endometriosis	rs2206949	T	0.0862	28537267
Endometriosis	rs4762326	T	0.0677	28537267
Endometriosis	rs1537377	C	0.077	28537267
Endometriosis	rs10757272	C	0.0583	28537267
Endometriosis	rs74485684	T	0.1044	28537267
Endometriosis	rs74491657	G	0.077	28537267
Endometriosis	rs12037376	A	0.131	28537267
Endometriosis	rs1971256	C	0.0953	28537267
Gout	rs12498742	A	0.3784	23263486
Gout	rs11099098	G	0.0296	23263486
Gout	rs17786744	G	0.0296	23263486
Gout	rs675209	T	0.0677	23263486
Gout	rs17632159	G	0.0392	23263486
Gout	rs3741414	C	0.0677	23263486
Gout	rs1035942	A	0.0296	23263486
Gout	rs10821905	A	0.0488	23263486
Gout	rs1178977	A	0.0488	23263486
Gout	rs6598541	A	0.0392	23263486
Gout	rs7188445	G	0.0296	23263486
Gout	rs7224610	C	0.0392	23263486
Gout	rs7193778	C	0.0488	23263486
Gout	rs17050272	A	0.0392	23263486
Gout	rs164009	A	0.0296	23263486
Gout	rs478607	G	0.0488	23263486
Gout	rs1471633	T	0.0583	23263486
Gout	rs1165151	G	0.0953	23263486
Gout	rs729761	G	0.0488	23263486
Gout	rs10480300	T	0.0296	23263486
Gout	rs1171614	C	0.077	23263486
Gout	rs1260326	T	0.077	23263486
Gout	rs11264341	C	0.0488	23263486
Gout	rs1394125	A	0.0392	23263486
Gout	rs653178	C	0.0392	23263486
Gout	rs10813960	C	0.0296	23263486
Gout	rs6770152	G	0.0488	23263486
Gout	rs2231142	T	0.2231	23263486
Gout	rs2078267	C	0.077	23263486
HDL Cholesterol	rs16942887	A	0.0742	30275531
HDL Cholesterol	rs2083637	G	0.0484	30275531
HDL Cholesterol	rs12443634	C	0.0313	30275531
HDL Cholesterol	rs2867125	T	0.0173	30275531
HDL Cholesterol	rs10733608	T	0.0139	30275531
HDL Cholesterol	rs10773105	C	0.0255	30275531
HDL Cholesterol	rs900399	G	0.0213	30275531
HDL Cholesterol	rs1421085	T	0.0282	30275531
HDL Cholesterol	rs622082	A	0.0155	30275531
HDL Cholesterol	rs2602836	A	0.0127	30275531
HDL Cholesterol	rs2228510	C	0.0117	30275531
HDL Cholesterol	rs738322	G	0.0198	30275531
HDL Cholesterol	rs17162330	T	0.0413	30275531
HDL Cholesterol	rs1132274	C	0.0159	30275531
HDL Cholesterol	rs13326165	A	0.0213	30275531
HDL Cholesterol	rs2071379	A	0.0143	30275531
HDL Cholesterol	rs36020289	C	0.0462	30275531
HDL Cholesterol	rs6905288	G	0.0295	30275531
HDL Cholesterol	rs7306660	G	0.0286	30275531
HDL Cholesterol	rs17091872	G	0.0559	30275531
HDL Cholesterol	rs964184	C	0.1321	30275531
HDL Cholesterol	rs11648751	C	0.0304	30275531
HDL Cholesterol	rs7165077	C	0.0273	30275531
HDL Cholesterol	rs11700063	A	0.0206	30275531
HDL Cholesterol	rs4976033	A	0.0134	30275531
HDL Cholesterol	rs7927401	C	0.021	30275531
HDL Cholesterol	rs4983559	G	0.0252	30275531
HDL Cholesterol	rs1801177	G	0.12	30275531
HDL Cholesterol	rs6486121	C	0.0152	30275531
HDL Cholesterol	rs2274517	T	0.0156	30275531
HDL Cholesterol	rs1534696	A	0.0185	30275531
HDL Cholesterol	rs235314	C	0.015	30275531
HDL Cholesterol	rs11774381	C	0.0278	30275531
HDL Cholesterol	rs2303361	C	0.0238	30275531
HDL Cholesterol	rs676210	A	0.0617	30275531
HDL Cholesterol	rs9657541	C	0.0246	30275531
HDL Cholesterol	rs7136716	G	0.0191	30275531
HDL Cholesterol	rs7134150	G	0.0314	30275531
HDL Cholesterol	rs2745353	C	0.0202	30275531
HDL Cholesterol	rs8044753	A	0.0248	30275531
HDL Cholesterol	rs2726070	G	0.0172	30275531
HDL Cholesterol	rs264	A	0.0325	30275531
HDL Cholesterol	rs3803800	G	0.0134	30275531
HDL Cholesterol	rs12912415	A	0.04	30275531
HDL Cholesterol	rs1415771	G	0.0129	30275531
HDL Cholesterol	rs12148597	G	0.0158	30275531
HDL Cholesterol	rs5880	G	0.1378	30275531
HDL Cholesterol	rs13284054	T	0.0541	30275531
HDL Cholesterol	rs2075650	A	0.0379	30275531
HDL Cholesterol	rs439401	T	0.0141	30275531
HDL Cholesterol	rs184070214	G	0.0445	30275531
HDL Cholesterol	rs3773910	G	0.0169	30275531
HDL Cholesterol	rs2943641	T	0.0391	30275531
HDL Cholesterol	rs17405319	C	0.0252	30275531
HDL Cholesterol	rs2792751	T	0.0277	30275531
HDL Cholesterol	rs61897793	A	0.0238	30275531
HDL Cholesterol	rs41272114	T	0.0663	30275531
HDL Cholesterol	rs37029	G	0.0242	30275531
HDL Cholesterol	rs635634	T	0.0145	30275531
HDL Cholesterol	rs11553746	T	0.0158	30275531
HDL Cholesterol	rs10023050	G	0.0152	30275531
HDL Cholesterol	rs5167	G	0.0376	30275531
HDL Cholesterol	rs326214	G	0.0248	30275531
HDL Cholesterol	rs1800977	A	0.0256	30275531
HDL Cholesterol	rs34317102	C	0.019	30275531
HDL Cholesterol	rs11556624	C	0.0867	30275531
HDL Cholesterol	rs11255744	C	0.0182	30275531
HDL Cholesterol	rs506829	T	0.0192	30275531
HDL Cholesterol	rs35349911	C	0.0138	30275531
HDL Cholesterol	rs838880	C	0.0249	30275531
HDL Cholesterol	rs16885998	T	0.0506	30275531
HDL Cholesterol	rs13107325	C	0.0777	30275531
HDL Cholesterol	rs11869286	C	0.0239	30275531
HDL Cholesterol	rs3905000	G	0.0547	30275531
HDL Cholesterol	rs390299	G	0.0145	30275531
HDL Cholesterol	rs4917014	G	0.0138	30275531
HDL Cholesterol	rs1532624	A	0.1128	30275531
HDL Cholesterol	rs8093249	A	0.0337	30275531
HDL Cholesterol	rs386000	C	0.0437	30275531
HDL Cholesterol	rs116843064	A	0.2456	30275531
HDL Cholesterol	rs4420638	A	0.042	30275531
HDL Cholesterol	rs11755393	A	0.0304	30275531
HDL Cholesterol	rs138407155	A	0.3555	30275531
HDL Cholesterol	rs11613352	T	0.0226	30275531
HDL Cholesterol	rs150728540	A	0.4756	30275531
HDL Cholesterol	rs12990465	T	0.0263	30275531
HDL Cholesterol	rs17616661	A	0.0258	30275531
HDL Cholesterol	rs4804833	G	0.015	30275531
HDL Cholesterol	rs12740374	T	0.0454	30275531
HDL Cholesterol	rs41270076	T	0.0386	30275531
HDL Cholesterol	rs2878349	G	0.015	30275531
HDL Cholesterol	rs2894342	A	0.0146	30275531
HDL Cholesterol	rs10488698	A	0.0447	30275531
HDL Cholesterol	rs10838738	A	0.0193	30275531
HDL Cholesterol	rs4871137	G	0.0213	30275531
HDL Cholesterol	rs1532085	A	0.062	30275531
HDL Cholesterol	rs1126930	G	0.0373	30275531
HDL Cholesterol	rs1211644	C	0.0178	30275531
HDL Cholesterol	rs4705986	G	0.0348	30275531
HDL Cholesterol	rs333947	G	0.0267	30275531
HDL Cholesterol	rs7298751	G	0.0426	30275531
HDL Cholesterol	rs7412	T	0.0856	30275531
HDL Cholesterol	rs2862954	C	0.0173	30275531
HDL Cholesterol	rs1800775	A	0.0317	30275531
HDL Cholesterol	rs6494003	A	0.0927	30275531
HDL Cholesterol	rs4239651	C	0.021	30275531
HDL Cholesterol	rs940904	G	0.0226	30275531
HDL Cholesterol	rs2954026	G	0.0493	30275531
HDL Cholesterol	rs138326449	A	0.7155	30275531
HDL Cholesterol	rs6494006	T	0.0436	30275531
HDL Cholesterol	rs2111504	A	0.0167	30275531
HDL Cholesterol	rs3184504	C	0.0243	30275531
HDL Cholesterol	rs4823006	G	0.013	30275531
HDL Cholesterol	rs731839	A	0.0178	30275531
HDL Cholesterol	rs34859606	G	0.0194	30275531
HDL Cholesterol	rs72650673	G	0.1716	30275531
HDL Cholesterol	rs6511720	T	0.0201	30275531
HDL Cholesterol	rs11652146	G	0.0172	30275531
HDL Cholesterol	rs4794822	C	0.0177	30275531
HDL Cholesterol	rs8111071	A	0.0278	30275531
HDL Cholesterol	rs1800978	C	0.0574	30275531
HDL Cholesterol	rs28362581	G	0.0276	30275531
HDL Cholesterol	rs936960	T	0.0524	30275531
HDL Cholesterol	rs1869138	C	0.0281	30275531
HDL Cholesterol	rs34718390	A	0.0528	30275531
HDL Cholesterol	rs6777217	G	0.0129	30275531
HDL Cholesterol	rs17679445	A	0.0295	30275531
HDL Cholesterol	rs9989419	G	0.0336	30275531
HDL Cholesterol	rs972283	A	0.0276	30275531
HDL Cholesterol	rs267738	G	0.0239	30275531
HDL Cholesterol	rs2373459	T	0.016	30275531
HDL Cholesterol	rs2289750	G	0.0283	30275531
HDL Cholesterol	rs738409	C	0.0155	30275531
HDL Cholesterol	rs10408844	T	0.018	30275531
HDL Cholesterol	rs2957447	A	0.0138	30275531
HDL Cholesterol	rs12602912	C	0.0176	30275531
HDL Cholesterol	rs4650994	G	0.0193	30275531
HDL Cholesterol	rs12369179	C	0.031	30275531
HDL Cholesterol	rs11242	T	0.015	30275531
HDL Cholesterol	rs7076938	T	0.0172	30275531
HDL Cholesterol	rs4850047	T	0.0201	30275531
HDL Cholesterol	rs1759645	T	0.0239	30275531
HDL Cholesterol	rs12929759	A	0.0183	30275531
HDL Cholesterol	rs2066714	C	0.0514	30275531
HDL Cholesterol	rs174583	C	0.0424	30275531
HDL Cholesterol	rs4883201	A	0.0288	30275531
HDL Cholesterol	rs863750	C	0.0172	30275531
HDL Cholesterol	rs3752125	C	0.0204	30275531
HDL Cholesterol	rs1011731	A	0.0134	30275531
HDL Cholesterol	rs6855363	C	0.0185	30275531
HDL Cholesterol	rs140201358	C	0.0523	30275531
HDL Cholesterol	rs11660468	T	0.0253	30275531
HDL Cholesterol	rs884366	G	0.0143	30275531
HDL Cholesterol	rs10120087	A	0.0444	30275531
HDL Cholesterol	rs231539	C	0.0357	30275531
HDL Cholesterol	rs55707100	C	0.0934	30275531
HDL Cholesterol	rs6083	G	0.0162	30275531
HDL Cholesterol	rs10904908	G	0.0118	30275531
HDL Cholesterol	rs2268086	A	0.0144	30275531
HDL Cholesterol	rs6062343	A	0.0137	30275531
HDL Cholesterol	rs13389219	T	0.0327	30275531
HDL Cholesterol	rs180349	A	0.0171	30275531
HDL Cholesterol	rs11556924	T	0.0126	30275531
HDL Cholesterol	rs35169799	C	0.0396	30275531
HDL Cholesterol	rs9332739	G	0.029	30275531
HDL Cholesterol	rs2230808	C	0.0236	30275531
HDL Cholesterol	rs581080	C	0.037	30275531
HDL Cholesterol	rs12928822	T	0.0179	30275531
HDL Cholesterol	rs16940233	C	0.0478	30275531
HDL Cholesterol	rs1767141	C	0.0263	30275531
HDL Cholesterol	rs2305637	C	0.0264	30275531
HDL Cholesterol	rs1279840	T	0.028	30275531
HDL Cholesterol	rs11248051	C	0.019	30275531
HDL Cholesterol	rs17738540	C	0.0184	30275531
HDL Cholesterol	rs6694509	C	0.0195	30275531
HDL Cholesterol	rs181362	C	0.0303	30275531
HDL Cholesterol	rs72836561	C	0.1875	30275531
HDL Cholesterol	rs4847399	G	0.0216	30275531
HDL Cholesterol	rs139271800	G	0.2482	30275531
HDL Cholesterol	rs117623631	T	0.3432	30275531
HDL Cholesterol	rs8123864	T	0.0477	30275531
HDL Cholesterol	rs2807834	G	0.0238	30275531
HDL Cholesterol	rs4846914	A	0.0468	30275531
HDL Cholesterol	rs12230272	A	0.0223	30275531
HDL Cholesterol	rs4622454	T	0.0205	30275531
HDL Cholesterol	rs3824866	T	0.0331	30275531
HDL Cholesterol	rs268	A	0.2379	30275531
HDL Cholesterol	rs970548	C	0.0245	30275531
HDL Cholesterol	rs4711698	T	0.018	30275531
HDL Cholesterol	rs112519623	G	0.0472	30275531
HDL Cholesterol	rs3822072	G	0.0214	30275531
HDL Cholesterol	rs76315536	T	0.1614	30275531
HDL Cholesterol	rs2754820	A	0.0196	30275531
HDL Cholesterol	rs7837677	C	0.0336	30275531
HDL Cholesterol	rs925946	G	0.0122	30275531
HDL Cholesterol	rs12281729	A	0.0769	30275531
HDL Cholesterol	rs3786248	C	0.059	30275531
HDL Cholesterol	rs12317176	C	0.0224	30275531
HDL Cholesterol	rs76881554	G	0.1641	30275531
HDL Cholesterol	rs4238772	A	0.0286	30275531
HDL Cholesterol	rs4963975	G	0.0198	30275531
HDL Cholesterol	rs12708974	C	0.0857	30275531
HDL Cholesterol	rs4512408	T	0.0255	30275531
HDL Cholesterol	rs117901517	T	0.0378	30275531
HDL Cholesterol	rs12269901	C	0.0268	30275531
HDL Cholesterol	rs17301746	T	0.0879	30275531
HDL Cholesterol	rs2243976	A	0.0289	30275531
HDL Cholesterol	rs1043900	A	0.0234	30275531
HDL Cholesterol	rs1800961	C	0.1421	30275531
HDL Cholesterol	rs2148489	T	0.0223	30275531
HDL Cholesterol	rs9686661	C	0.0343	30275531
HDL Cholesterol	rs16962034	G	0.0157	30275531
HDL Cholesterol	rs2303108	T	0.0137	30275531
HDL Cholesterol	rs8021180	A	0.0142	30275531
HDL Cholesterol	rs2410622	C	0.0264	30275531
HDL Cholesterol	rs16856110	A	0.0199	30275531
HDL Cholesterol	rs737337	T	0.057	30275531
HDL Cholesterol	rs1788783	T	0.015	30275531
HDL Cholesterol	rs746463	C	0.0165	30275531
HDL Cholesterol	rs13702	C	0.0589	30275531
HDL Cholesterol	rs4660293	A	0.04	30275531
HDL Cholesterol	rs12975366	T	0.0212	30275531
HDL Cholesterol	rs12145743	G	0.014	30275531
HDL Cholesterol	rs4937122	T	0.0317	30275531
HDL Cholesterol	rs36049418	A	0.0656	30275531
HDL Cholesterol	rs2913968	T	0.0166	30275531
HDL Cholesterol	rs4841132	G	0.108	30275531
HDL Cholesterol	rs6025606	T	0.0119	30275531
HDL Cholesterol	rs293429	C	0.0133	30275531
HDL Cholesterol	rs2303975	A	0.0192	30275531
HDL Cholesterol	rs12975319	G	0.0153	30275531
HDL Cholesterol	rs10106652	A	0.0306	30275531
HDL Cholesterol	rs7241918	T	0.0741	30275531
HDL Cholesterol	rs2292642	T	0.0319	30275531
HDL Cholesterol	rs2293889	G	0.0304	30275531
HDL Cholesterol	rs3827066	T	0.0496	30275531
HDL Cholesterol	rs3735080	C	0.0137	30275531
HDL Cholesterol	rs3756772	T	0.0128	30275531
HDL Cholesterol	rs6668958	T	0.0204	30275531
HDL Cholesterol	rs6651485	A	0.0539	30275531
HDL Cholesterol	rs2068888	A	0.0205	30275531
HDL Cholesterol	rs10852765	A	0.0156	30275531
HDL Cholesterol	rs881858	G	0.0138	30275531
HDL Cholesterol	rs34065661	G	0.4847	30275531
HDL Cholesterol	rs4234589	A	0.0222	30275531
HDL Cholesterol	rs17532301	G	0.0266	30275531
HDL Cholesterol	rs181181625	T	0.3478	30275531
HDL Cholesterol	rs2067819	A	0.0211	30275531
HDL Cholesterol	rs6983999	A	0.0239	30275531
HDL Cholesterol	rs593245	T	0.0146	30275531
HDL Cholesterol	rs16940147	A	0.0499	30275531
HDL Cholesterol	rs6586892	A	0.036	30275531
HDL Cholesterol	rs6762477	A	0.0232	30275531
HDL Cholesterol	rs5891	T	0.0776	30275531
HDL Cholesterol	rs1652507	T	0.046	30275531
HDL Cholesterol	rs562338	A	0.0178	30275531
HDL Cholesterol	rs3135006	C	0.0195	30275531
HDL Cholesterol	rs643381	A	0.0208	30275531
HDL Cholesterol	rs11712666	G	0.0141	30275531
HDL Cholesterol	rs35000036	C	0.0132	30275531
HDL Cholesterol	rs7735253	G	0.021	30275531
HDL Cholesterol	rs784563	T	0.0153	30275531
HDL Cholesterol	rs1183910	A	0.0127	30275531
HDL Cholesterol	rs77960347	G	0.2505	30275531
HDL Cholesterol	rs1345868	A	0.0144	30275531
HDL Cholesterol	rs10892063	A	0.0418	30275531
HDL Cholesterol	rs16928809	G	0.0246	30275531
HDL Cholesterol	rs72786786	A	0.0577	30275531
HDL Cholesterol	rs10483776	A	0.0153	30275531
HDL Cholesterol	rs310631	A	0.0133	30275531
HDL Cholesterol	rs12482088	A	0.0187	30275531
HDL Cholesterol	rs1798192	G	0.0193	30275531
HDL Cholesterol	rs7787577	A	0.0314	30275531
HDL Cholesterol	rs558971	G	0.0138	30275531
HDL Cholesterol	rs424346	T	0.0545	30275531
HDL Cholesterol	rs77301115	G	0.066	30275531
HDL Cholesterol	rs1168089	C	0.0153	30275531
HDL Cholesterol	rs289714	A	0.0822	30275531
HDL Cholesterol	rs2292101	C	0.0438	30275531
HDL Cholesterol	rs7633675	T	0.0133	30275531
HDL Cholesterol	rs17269397	G	0.0261	30275531
HDL Cholesterol	rs10057967	C	0.0205	30275531
HDL Cholesterol	rs5883	T	0.1674	30275531
HDL Cholesterol	rs12144891	A	0.0168	30275531
HDL Cholesterol	rs1265099	A	0.017	30275531
HDL Cholesterol	rs7134375	A	0.0215	30275531
HDL Cholesterol	rs11078915	C	0.0267	30275531
HDL Cholesterol	rs7202647	T	0.017	30275531
HDL Cholesterol	rs10019888	A	0.0243	30275531
HDL Cholesterol	rs4939886	A	0.0198	30275531
HDL Cholesterol	rs459193	A	0.0265	30275531
HDL Cholesterol	rs7202185	G	0.0373	30275531
HDL Cholesterol	rs4775041	C	0.0388	30275531
HDL Cholesterol	rs7203984	A	0.0741	30275531
HDL Cholesterol	rs1178979	C	0.0335	30275531
HDL Cholesterol	rs644740	T	0.016	30275531
HDL Cholesterol	rs6435161	T	0.0177	30275531
HDL Cholesterol	rs4783961	A	0.026	30275531
HDL Cholesterol	rs6983170	T	0.0933	30275531
HDL Cholesterol	rs499974	C	0.0254	30275531
HDL Cholesterol	rs7941030	C	0.0229	30275531
HDL Cholesterol	rs2434612	A	0.0225	30275531
HDL Cholesterol	rs7298565	A	0.028	30275531
HDL Cholesterol	rs9944249	G	0.0132	30275531
HDL Cholesterol	rs12979085	A	0.0204	30275531
HDL Cholesterol	rs13292026	G	0.0437	30275531
HDL Cholesterol	rs1997243	G	0.0222	30275531
HDL Cholesterol	rs9956279	C	0.0168	30275531
HDL Cholesterol	rs7550711	C	0.049	30275531
HDL Cholesterol	rs7730898	G	0.0183	30275531
HDL Cholesterol	rs10282707	C	0.0258	30275531
Inflammatory Bowel Disease	rs4845604	G	0.1236	26192919 · 28067908
Inflammatory Bowel Disease	rs4656958	G	0.077	26192919 · 28067908
Inflammatory Bowel Disease	rs111456533	G	0.1044	26192919 · 28067908
Inflammatory Bowel Disease	rs13300218	G	0.1548	26192919 · 28067908
Inflammatory Bowel Disease	rs2189234	T	0.0518	26192919 · 28067908
Inflammatory Bowel Disease	rs564349	G	0.0552	26192919 · 28067908
Inflammatory Bowel Disease	rs314313	C	0.0666	26192919 · 28067908
Inflammatory Bowel Disease	rs10781499	A	0.157	26192919 · 28067908
Inflammatory Bowel Disease	rs10492862	A	0.1044	26192919 · 28067908
Inflammatory Bowel Disease	rs6920220	A	0.0948	26192919 · 28067908
Inflammatory Bowel Disease	rs17057051	A	0.0587	26192919 · 28067908
Inflammatory Bowel Disease	rs2457996	A	0.077	26192919 · 28067908
Inflammatory Bowel Disease	rs7240004	A	0.0665	26192919 · 28067908
Inflammatory Bowel Disease	rs11681525	G	0.1074	26192919 · 28067908
Inflammatory Bowel Disease	rs80244186	C	0.1222	26192919 · 28067908
Inflammatory Bowel Disease	rs17119	A	0.0833	26192919 · 28067908
Inflammatory Bowel Disease	rs925255	C	0.077	26192919 · 28067908
Inflammatory Bowel Disease	rs17085007	C	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs568617	T	0.0583	26192919 · 28067908
Inflammatory Bowel Disease	rs913678	T	0.0692	26192919 · 28067908
Inflammatory Bowel Disease	rs6863411	T	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs12568930	T	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs6588248	G	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs7954567	A	0.0488	26192919 · 28067908
Inflammatory Bowel Disease	rs483905	A	0.0579	26192919 · 28067908
Inflammatory Bowel Disease	rs3853824	C	0.064	26192919 · 28067908
Inflammatory Bowel Disease	rs67289879	T	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs4743820	T	0.064	26192919 · 28067908
Inflammatory Bowel Disease	rs2073505	A	0.095	26192919 · 28067908
Inflammatory Bowel Disease	rs3774937	C	0.0488	26192919 · 28067908
Inflammatory Bowel Disease	rs6667605	C	0.0488	26192919 · 28067908
Inflammatory Bowel Disease	rs34687326	G	0.1655	26192919 · 28067908
Inflammatory Bowel Disease	rs3024505	A	0.1989	26192919 · 28067908
Inflammatory Bowel Disease	rs13300483	T	0.0931	26192919 · 28067908
Inflammatory Bowel Disease	rs13126505	A	0.131	26192919 · 28067908
Inflammatory Bowel Disease	rs17771967	G	0.0465	26192919 · 28067908
Inflammatory Bowel Disease	rs4409764	T	0.1655	26192919 · 28067908
Inflammatory Bowel Disease	rs12720356	C	0.1483	26192919 · 28067908
Inflammatory Bowel Disease	rs6716753	C	0.0813	26192919 · 28067908
Inflammatory Bowel Disease	rs6087990	G	0.0488	26192919 · 28067908
Inflammatory Bowel Disease	rs2111485	A	0.0583	26192919 · 28067908
Inflammatory Bowel Disease	rs559928	C	0.0944	26192919 · 28067908
Inflammatory Bowel Disease	rs1182188	T	0.0659	26192919 · 28067908
Inflammatory Bowel Disease	rs34856868	G	0.1953	26192919 · 28067908
Inflammatory Bowel Disease	rs4728142	A	0.0507	26192919 · 28067908
Inflammatory Bowel Disease	rs1405108	C	0.0392	26192919 · 28067908
Inflammatory Bowel Disease	rs7165170	A	0.0649	26192919 · 28067908
Inflammatory Bowel Disease	rs10758669	C	0.1488	26192919 · 28067908
Inflammatory Bowel Disease	rs6062504	G	0.1044	26192919 · 28067908
Inflammatory Bowel Disease	rs59043219	A	0.077	26192919 · 28067908
Inflammatory Bowel Disease	rs1199103	A	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs3197999	A	0.1655	26192919 · 28067908
Inflammatory Bowel Disease	rs7555082	A	0.0959	26192919 · 28067908
Inflammatory Bowel Disease	rs2816958	G	0.099	26192919 · 28067908
Inflammatory Bowel Disease	rs28374715	A	0.0488	26192919 · 28067908
Inflammatory Bowel Disease	rs2361755	G	0.1398	26192919 · 28067908
Inflammatory Bowel Disease	rs7097656	G	0.0993	26192919 · 28067908
Inflammatory Bowel Disease	rs16967103	C	0.0643	26192919 · 28067908
Inflammatory Bowel Disease	rs7517810	T	0.0583	26192919 · 28067908
Inflammatory Bowel Disease	rs8005161	T	0.1398	26192919 · 28067908
Inflammatory Bowel Disease	rs616597	C	0.0488	26192919 · 28067908
Inflammatory Bowel Disease	rs212388	C	0.0537	26192919 · 28067908
Inflammatory Bowel Disease	rs1801274	A	0.1253	26192919 · 28067908
Inflammatory Bowel Disease	rs17061048	A	0.1355	26192919 · 28067908
Inflammatory Bowel Disease	rs2503322	A	0.0392	26192919 · 28067908
Inflammatory Bowel Disease	rs116392568	C	0.0947	26192919 · 28067908
Inflammatory Bowel Disease	rs4246905	C	0.1222	26192919 · 28067908
Inflammatory Bowel Disease	rs1077773	A	0.049	26192919 · 28067908
Inflammatory Bowel Disease	rs4976646	C	0.073	26192919 · 28067908
Inflammatory Bowel Disease	rs6426833	A	0.1242	26192919 · 28067908
Inflammatory Bowel Disease	rs6908425	C	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs72810983	A	0.0626	26192919 · 28067908
Inflammatory Bowel Disease	rs6556412	A	0.1254	26192919 · 28067908
Inflammatory Bowel Disease	rs113653754	C	0.1931	26192919 · 28067908
Inflammatory Bowel Disease	rs6740462	A	0.08	26192919 · 28067908
Inflammatory Bowel Disease	rs3742130	G	0.0864	26192919 · 28067908
Inflammatory Bowel Disease	rs12946510	T	0.1315	26192919 · 28067908
Inflammatory Bowel Disease	rs6074022	G	0.0743	26192919 · 28067908
Inflammatory Bowel Disease	rs12627970	G	0.1093	26192919 · 28067908
Inflammatory Bowel Disease	rs566416	T	0.0392	26192919 · 28067908
Inflammatory Bowel Disease	rs1811711	C	0.131	26192919 · 28067908
Inflammatory Bowel Disease	rs11641184	A	0.0773	26192919 · 28067908
Inflammatory Bowel Disease	rs2538470	A	0.0676	26192919 · 28067908
Inflammatory Bowel Disease	rs10061469	T	0.0518	26192919 · 28067908
Inflammatory Bowel Disease	rs5763767	A	0.077	26192919 · 28067908
Inflammatory Bowel Disease	rs17229285	C	0.0493	26192919 · 28067908
Inflammatory Bowel Disease	rs1847472	C	0.0673	26192919 · 28067908
Inflammatory Bowel Disease	rs7134472	A	0.1044	26192919 · 28067908
Inflammatory Bowel Disease	rs12199775	A	0.1039	26192919 · 28067908
Inflammatory Bowel Disease	rs17780256	A	0.0834	26192919 · 28067908
Inflammatory Bowel Disease	rs727563	C	0.0565	26192919 · 28067908
Inflammatory Bowel Disease	rs3806308	C	0.0953	26192919 · 28067908
Inflammatory Bowel Disease	rs11548656	A	0.239	26192919 · 28067908
Inflammatory Bowel Disease	rs11554257	C	0.1384	26192919 · 28067908
Inflammatory Bowel Disease	rs12103	A	0.0867	26192919 · 28067908
Inflammatory Bowel Disease	rs653178	C	0.0564	26192919 · 28067908
Inflammatory Bowel Disease	rs1517352	C	0.0779	26192919 · 28067908
Inflammatory Bowel Disease	rs4821544	C	0.0953	26192919 · 28067908
Inflammatory Bowel Disease	rs194749	C	0.0583	26192919 · 28067908
Inflammatory Bowel Disease	rs7404095	C	0.0557	26192919 · 28067908
Inflammatory Bowel Disease	rs11054935	G	0.0505	26192919 · 28067908
Inflammatory Bowel Disease	rs9297145	C	0.0713	26192919 · 28067908
Inflammatory Bowel Disease	rs9358372	G	0.0605	26192919 · 28067908
Inflammatory Bowel Disease	rs13204048	A	0.0497	26192919 · 28067908
Inflammatory Bowel Disease	rs2382817	A	0.0677	26192919 · 28067908
Inflammatory Bowel Disease	rs56167332	A	0.1559	26192919 · 28067908
Inflammatory Bowel Disease	rs2581828	C	0.0953	26192919 · 28067908
Inflammatory Bowel Disease	rs3116494	G	0.059	26192919 · 28067908
Inflammatory Bowel Disease	rs224090	T	0.0953	26192919 · 28067908
Inflammatory Bowel Disease	rs17694108	A	0.0858	26192919 · 28067908
Inflammatory Bowel Disease	rs13204742	T	0.0916	26192919 · 28067908
Inflammatory Bowel Disease	rs10486483	A	0.0602	26192919 · 28067908
Inflammatory Bowel Disease	rs174537	T	0.0583	26192919 · 28067908
Inflammatory Bowel Disease	rs7236492	C	0.0803	26192919 · 28067908
Inflammatory Bowel Disease	rs4380874	T	0.0806	26192919 · 28067908
Inflammatory Bowel Disease	rs6088765	G	0.0296	26192919 · 28067908
Inflammatory Bowel Disease	rs80174646	G	0.6259	26192919 · 28067908
Inflammatory Bowel Disease	rs6651252	T	0.0908	26192919 · 28067908
Inflammatory Bowel Disease	rs4256018	G	0.077	26192919 · 28067908
Inflammatory Bowel Disease	rs423674	G	0.084	26192919 · 28067908
Inflammatory Bowel Disease	rs12663356	C	0.0627	26192919 · 28067908
Inflammatory Bowel Disease	rs10798069	G	0.0511	26192919 · 28067908
Inflammatory Bowel Disease	rs10065637	C	0.0687	26192919 · 28067908
Inflammatory Bowel Disease	rs670523	A	0.0488	26192919 · 28067908
Inflammatory Bowel Disease	rs1363907	A	0.0815	26192919 · 28067908
Inflammatory Bowel Disease	rs10051722	A	0.0616	26192919 · 28067908
Inflammatory Bowel Disease	rs7015630	T	0.0628	26192919 · 28067908
Inflammatory Bowel Disease	rs7438704	G	0.0511	26192919 · 28067908
Inflammatory Bowel Disease	rs12722515	C	0.0989	26192919 · 28067908
Inflammatory Bowel Disease	rs2641348	A	0.0742	26192919 · 28067908
Inflammatory Bowel Disease	rs1569328	C	0.081	26192919 · 28067908
Inflammatory Bowel Disease	rs13407913	G	0.0917	26192919 · 28067908
Inflammatory Bowel Disease	rs138788	A	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs17622378	G	0.1368	26192919 · 28067908
Inflammatory Bowel Disease	rs1505992	A	0.1257	26192919 · 28067908
Inflammatory Bowel Disease	rs2024092	A	0.1068	26192919 · 28067908
Inflammatory Bowel Disease	rs3172494	T	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs7746082	C	0.1044	26192919 · 28067908
Inflammatory Bowel Disease	rs6724516	A	0.0583	26192919 · 28067908
Inflammatory Bowel Disease	rs2593855	C	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs12942547	A	0.0953	26192919 · 28067908
Inflammatory Bowel Disease	rs113010081	C	0.0922	26192919 · 28067908
Inflammatory Bowel Disease	rs3851228	T	0.1484	26192919 · 28067908
Inflammatory Bowel Disease	rs11734570	A	0.0677	26192919 · 28067908
Inflammatory Bowel Disease	rs6856616	C	0.0934	26192919 · 28067908
Inflammatory Bowel Disease	rs2488389	A	0.0953	26192919 · 28067908
Inflammatory Bowel Disease	rs6740847	A	0.0953	26192919 · 28067908
Inflammatory Bowel Disease	rs1292053	G	0.0701	26192919 · 28067908
Inflammatory Bowel Disease	rs2836878	G	0.1655	26192919 · 28067908
Inflammatory Bowel Disease	rs26528	C	0.0969	26192919 · 28067908
Inflammatory Bowel Disease	rs11150589	T	0.05	26192919 · 28067908
Inflammatory Bowel Disease	rs12994997	A	0.1336	26192919 · 28067908
Inflammatory Bowel Disease	rs1893217	G	0.1432	26192919 · 28067908
Inflammatory Bowel Disease	rs1748195	G	0.0392	26192919 · 28067908
Inflammatory Bowel Disease	rs17736589	G	0.0488	26192919 · 28067908
Inflammatory Bowel Disease	rs144344067	A	0.1133	26192919 · 28067908
Inflammatory Bowel Disease	rs11083840	G	0.0473	26192919 · 28067908
Inflammatory Bowel Disease	rs11742570	C	0.174	26192919 · 28067908
Inflammatory Bowel Disease	rs56116661	C	0.131	26192919 · 28067908
Inflammatory Bowel Disease	rs11064881	A	0.0994	26192919 · 28067908
Inflammatory Bowel Disease	rs17293632	T	0.1072	26192919 · 28067908
Inflammatory Bowel Disease	rs1456896	T	0.0784	26192919 · 28067908
Inflammatory Bowel Disease	rs561722	C	0.0645	26192919 · 28067908
Inflammatory Bowel Disease	rs3091315	A	0.1036	26192919 · 28067908
Inflammatory Bowel Disease	rs6025	C	0.1775	26192919 · 28067908
Inflammatory Bowel Disease	rs1260326	T	0.0771	26192919 · 28067908
Inflammatory Bowel Disease	rs727088	G	0.0618	26192919 · 28067908
Inflammatory Bowel Disease	rs9868809	T	0.1372	26192919 · 28067908
Inflammatory Bowel Disease	rs395157	T	0.0914	26192919 · 28067908
Inflammatory Bowel Disease	rs243505	A	0.077	26192919 · 28067908
Inflammatory Bowel Disease	rs254560	A	0.0615	26192919 · 28067908
Inflammatory Bowel Disease	rs11168249	C	0.0392	26192919 · 28067908
Inflammatory Bowel Disease	rs6708413	G	0.0878	26192919 · 28067908
Inflammatory Bowel Disease	rs2284553	G	0.0595	26192919 · 28067908
Inflammatory Bowel Disease	rs4692386	C	0.058	26192919 · 28067908
Inflammatory Bowel Disease	rs503734	A	0.0677	26192919 · 28067908
Inflammatory Bowel Disease	rs4541435	T	0.1484	26192919 · 28067908
Inflammatory Bowel Disease	rs10761659	G	0.1538	26192919 · 28067908
Inflammatory Bowel Disease	rs10495903	T	0.1044	26192919 · 28067908
Inflammatory Bowel Disease	rs2930047	C	0.077	26192919 · 28067908
Inflammatory Bowel Disease	rs4243971	G	0.0487	26192919 · 28067908
Inflammatory Bowel Disease	rs3764147	G	0.0946	26192919 · 28067908
Inflammatory Bowel Disease	rs7517847	T	0.2469	26192919 · 28067908
Inflammatory Bowel Disease	rs2256609	G	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs259964	A	0.0675	26192919 · 28067908
Inflammatory Bowel Disease	rs3740415	A	0.0488	26192919 · 28067908
Inflammatory Bowel Disease	rs1842076	T	0.0866	26192919 · 28067908
Inflammatory Bowel Disease	rs38911	G	0.0392	26192919 · 28067908
Inflammatory Bowel Disease	rs76527535	C	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs7011507	G	0.0846	26192919 · 28067908
Inflammatory Bowel Disease	rs11768365	A	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs11583043	T	0.0539	26192919 · 28067908
Inflammatory Bowel Disease	rs17656349	T	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs907611	A	0.0603	26192919 · 28067908
Inflammatory Bowel Disease	rs2413583	C	0.174	26192919 · 28067908
Inflammatory Bowel Disease	rs2155219	T	0.1484	26192919 · 28067908
Inflammatory Bowel Disease	rs7805114	A	0.0583	26192919 · 28067908
Inflammatory Bowel Disease	rs4256159	T	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs4703855	C	0.0711	26192919 · 28067908
Inflammatory Bowel Disease	rs7911117	T	0.131	26192919 · 28067908
Inflammatory Bowel Disease	rs1819333	T	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs12718244	A	0.0762	26192919 · 28067908
Inflammatory Bowel Disease	rs10995235	A	0.077	26192919 · 28067908
Inflammatory Bowel Disease	rs17391694	C	0.077	26192919 · 28067908
Inflammatory Bowel Disease	rs915286	A	0.0587	26192919 · 28067908
Inflammatory Bowel Disease	rs1042058	C	0.0583	26192919 · 28067908
Inflammatory Bowel Disease	rs4768236	C	0.0816	26192919 · 28067908
Inflammatory Bowel Disease	rs10185424	T	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs2227551	T	0.077	26192919 · 28067908
Inflammatory Bowel Disease	rs516246	T	0.0756	26192919 · 28067908
Inflammatory Bowel Disease	rs921720	G	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs11743851	C	0.1024	26192919 · 28067908
Inflammatory Bowel Disease	rs2823286	G	0.1133	26192919 · 28067908
Inflammatory Bowel Disease	rs11230563	C	0.0812	26192919 · 28067908
Inflammatory Bowel Disease	rs941823	C	0.083	26192919 · 28067908
Inflammatory Bowel Disease	rs12778642	T	0.0488	26192919 · 28067908
Inflammatory Bowel Disease	rs9313808	G	0.1422	26192919 · 28067908
Inflammatory Bowel Disease	rs9525625	T	0.045	26192919 · 28067908
Inflammatory Bowel Disease	rs7608910	G	0.1264	26192919 · 28067908
Inflammatory Bowel Disease	rs11879191	G	0.1133	26192919 · 28067908
Inflammatory Bowel Disease	rs7657746	A	0.0869	26192919 · 28067908
Inflammatory Bowel Disease	rs1250546	A	0.0862	26192919 · 28067908
Inflammatory Bowel Disease	rs7758080	G	0.058	26192919 · 28067908
Inflammatory Bowel Disease	rs113986290	C	0.3075	26192919 · 28067908
Inflammatory Bowel Disease	rs12422544	C	0.3001	26192919 · 28067908
Inflammatory Bowel Disease	rs4802307	G	0.0611	26192919 · 28067908
Inflammatory Bowel Disease	rs3749171	T	0.1133	26192919 · 28067908
Inflammatory Bowel Disease	rs3766606	G	0.1133	26192919 · 28067908
Inflammatory Bowel Disease	rs11010067	G	0.1058	26192919 · 28067908
Inflammatory Bowel Disease	rs9319943	C	0.0392	26192919 · 28067908
Inflammatory Bowel Disease	rs11229555	G	0.0788	26192919 · 28067908
LDL Cholesterol	rs4635554	G	0.0221	30275531
LDL Cholesterol	rs3816492	C	0.0167	30275531
LDL Cholesterol	rs2251219	C	0.0137	30275531
LDL Cholesterol	rs41274050	T	0.0774	30275531
LDL Cholesterol	rs129128	T	0.0208	30275531
LDL Cholesterol	rs4745	A	0.0124	30275531
LDL Cholesterol	rs4968318	A	0.022	30275531
LDL Cholesterol	rs13315871	G	0.0323	30275531
LDL Cholesterol	rs11774381	C	0.0286	30275531
LDL Cholesterol	rs1473886	G	0.0146	30275531
LDL Cholesterol	rs12208357	T	0.0616	30275531
LDL Cholesterol	rs2521567	G	0.0149	30275531
LDL Cholesterol	rs1979848	A	0.0257	30275531
LDL Cholesterol	rs1521516	C	0.0161	30275531
LDL Cholesterol	rs35172831	T	0.0191	30275531
LDL Cholesterol	rs4870941	C	0.0439	30275531
LDL Cholesterol	rs1044418	T	0.018	30275531
LDL Cholesterol	rs887829	C	0.0205	30275531
LDL Cholesterol	rs2235215	T	0.0246	30275531
LDL Cholesterol	rs10260606	C	0.0369	30275531
LDL Cholesterol	rs7080366	T	0.0194	30275531
LDL Cholesterol	rs3742318	T	0.0201	30275531
LDL Cholesterol	rs34130495	A	0.0478	30275531
LDL Cholesterol	rs12175867	T	0.0255	30275531
LDL Cholesterol	rs679899	G	0.0295	30275531
LDL Cholesterol	rs1122608	G	0.0479	30275531
LDL Cholesterol	rs1475701	C	0.0676	30275531
LDL Cholesterol	rs2833487	G	0.035	30275531
LDL Cholesterol	rs3852861	G	0.0563	30275531
LDL Cholesterol	rs2068888	G	0.0171	30275531
LDL Cholesterol	rs1260327	A	0.0148	30275531
LDL Cholesterol	rs732841	A	0.0413	30275531
LDL Cholesterol	rs1169288	C	0.0346	30275531
LDL Cholesterol	rs4752805	G	0.0148	30275531
LDL Cholesterol	rs58542926	C	0.0978	30275531
LDL Cholesterol	rs1808458	T	0.031	30275531
LDL Cholesterol	rs1048013	T	0.0123	30275531
LDL Cholesterol	rs118004742	T	0.0291	30275531
LDL Cholesterol	rs4302748	A	0.0152	30275531
LDL Cholesterol	rs4300767	G	0.0947	30275531
LDL Cholesterol	rs2391211	T	0.0231	30275531
LDL Cholesterol	rs59325138	T	0.0982	30275531
LDL Cholesterol	rs12713843	C	0.1881	30275531
LDL Cholesterol	rs61739739	T	0.08	30275531
LDL Cholesterol	rs892010	C	0.0395	30275531
LDL Cholesterol	rs3184504	C	0.0258	30275531
LDL Cholesterol	rs17651629	C	0.0317	30275531
LDL Cholesterol	rs11669338	T	0.0501	30275531
LDL Cholesterol	rs12610605	A	0.1262	30275531
LDL Cholesterol	rs1135062	G	0.0169	30275531
LDL Cholesterol	rs9646133	G	0.0195	30275531
LDL Cholesterol	rs3780181	A	0.0328	30275531
LDL Cholesterol	rs11080150	A	0.0148	30275531
LDL Cholesterol	rs7640978	C	0.0321	30275531
LDL Cholesterol	rs2954029	A	0.0242	30275531
LDL Cholesterol	rs61754230	T	0.0515	30275531
LDL Cholesterol	rs2239619	A	0.0159	30275531
LDL Cholesterol	rs2479409	G	0.0225	30275531
LDL Cholesterol	rs814295	A	0.0305	30275531
LDL Cholesterol	rs769452	C	0.1493	30275531
LDL Cholesterol	rs1129187	G	0.0123	30275531
LDL Cholesterol	rs4077440	T	0.1167	30275531
LDL Cholesterol	rs11669576	A	0.0636	30275531
LDL Cholesterol	rs10888896	C	0.0289	30275531
LDL Cholesterol	rs157580	A	0.0754	30275531
LDL Cholesterol	rs157582	C	0.0324	30275531
LDL Cholesterol	rs6547409	C	0.0953	30275531
LDL Cholesterol	rs3800406	A	0.0278	30275531
LDL Cholesterol	rs4148218	G	0.0598	30275531
LDL Cholesterol	rs867772	G	0.0258	30275531
LDL Cholesterol	rs17789218	T	0.022	30275531
LDL Cholesterol	rs4804579	T	0.0244	30275531
LDL Cholesterol	rs3745677	A	0.0774	30275531
LDL Cholesterol	rs35106910	A	0.0317	30275531
LDL Cholesterol	rs558971	G	0.0363	30275531
LDL Cholesterol	rs492602	G	0.0279	30275531
LDL Cholesterol	rs6058302	C	0.0271	30275531
LDL Cholesterol	rs62440901	T	0.0358	30275531
LDL Cholesterol	rs11583680	T	0.0272	30275531
LDL Cholesterol	rs174449	A	0.0268	30275531
LDL Cholesterol	rs641738	T	0.0141	30275531
LDL Cholesterol	rs3798236	T	0.0184	30275531
LDL Cholesterol	rs1997243	G	0.0164	30275531
LDL Cholesterol	rs28929474	T	0.0713	30275531
LDL Cholesterol	rs3816873	T	0.0135	30275531
LDL Cholesterol	rs2081687	T	0.0268	30275531
LDL Cholesterol	rs6511721	G	0.0371	30275531
LDL Cholesterol	rs3846662	G	0.0565	30275531
LDL Cholesterol	rs4883201	A	0.0228	30275531
LDL Cholesterol	rs10773003	A	0.0237	30275531
LDL Cholesterol	rs10119	A	0.0668	30275531
LDL Cholesterol	rs7616006	A	0.0222	30275531
LDL Cholesterol	rs11955819	T	0.0583	30275531
LDL Cholesterol	rs314253	T	0.0203	30275531
LDL Cholesterol	rs11206510	T	0.0684	30275531
LDL Cholesterol	rs12740374	G	0.1598	30275531
LDL Cholesterol	rs7197453	C	0.0251	30275531
LDL Cholesterol	rs704	A	0.0201	30275531
LDL Cholesterol	rs12602912	T	0.0156	30275531
LDL Cholesterol	rs4921914	C	0.0181	30275531
LDL Cholesterol	rs405509	T	0.1727	30275531
LDL Cholesterol	rs4773173	A	0.0164	30275531
LDL Cholesterol	rs2992753	C	0.0124	30275531
LDL Cholesterol	rs6016373	A	0.0227	30275531
LDL Cholesterol	rs13107325	C	0.0292	30275531
LDL Cholesterol	rs13192471	C	0.0336	30275531
LDL Cholesterol	rs330093	C	0.0295	30275531
LDL Cholesterol	rs12601110	A	0.0272	30275531
LDL Cholesterol	rs62122515	A	0.0258	30275531
LDL Cholesterol	rs11556157	T	0.0202	30275531
LDL Cholesterol	rs72796748	T	0.0588	30275531
LDL Cholesterol	rs738409	C	0.0148	30275531
LDL Cholesterol	rs8069974	C	0.0148	30275531
LDL Cholesterol	rs515135	C	0.0882	30275531
LDL Cholesterol	rs2954038	C	0.0368	30275531
LDL Cholesterol	rs11782386	C	0.0246	30275531
LDL Cholesterol	rs6062343	G	0.0146	30275531
LDL Cholesterol	rs12670798	C	0.0295	30275531
LDL Cholesterol	rs4129767	A	0.0157	30275531
LDL Cholesterol	rs2274224	G	0.0142	30275531
LDL Cholesterol	rs17111483	T	0.0403	30275531
LDL Cholesterol	rs150090162	A	0.1614	30275531
LDL Cholesterol	rs35259348	C	0.0197	30275531
LDL Cholesterol	rs2569538	G	0.0606	30275531
LDL Cholesterol	rs12713844	C	0.0741	30275531
LDL Cholesterol	rs3812594	G	0.0139	30275531
LDL Cholesterol	rs2282889	G	0.0164	30275531
LDL Cholesterol	rs4485425	G	0.0189	30275531
LDL Cholesterol	rs9390698	A	0.0129	30275531
LDL Cholesterol	rs1042023	C	0.0864	30275531
LDL Cholesterol	rs4722551	C	0.0386	30275531
LDL Cholesterol	rs9302635	T	0.055	30275531
LDL Cholesterol	rs1801702	C	0.0969	30275531
LDL Cholesterol	rs1730859	G	0.019	30275531
LDL Cholesterol	rs6435161	T	0.0236	30275531
LDL Cholesterol	rs73015030	G	0.0788	30275531
LDL Cholesterol	rs12742537	A	0.0153	30275531
LDL Cholesterol	rs439401	T	0.0292	30275531
LDL Cholesterol	rs3852856	A	0.0612	30275531
LDL Cholesterol	rs10185855	A	0.0138	30275531
LDL Cholesterol	rs144787122	G	0.1042	30275531
LDL Cholesterol	rs871841	C	0.0146	30275531
LDL Cholesterol	rs10263252	G	0.023	30275531
LDL Cholesterol	rs693668	A	0.0286	30275531
LDL Cholesterol	rs10513551	G	0.0154	30275531
LDL Cholesterol	rs10757272	C	0.0195	30275531
LDL Cholesterol	rs7941030	C	0.0138	30275531
LDL Cholesterol	rs12939848	C	0.014	30275531
LDL Cholesterol	rs1014283	C	0.0186	30275531
LDL Cholesterol	rs6718187	G	0.0697	30275531
LDL Cholesterol	rs4530754	A	0.0161	30275531
LDL Cholesterol	rs6706968	C	0.0228	30275531
LDL Cholesterol	rs3748034	T	0.0179	30275531
LDL Cholesterol	rs11603023	T	0.0126	30275531
LDL Cholesterol	rs1982074	A	0.0229	30275531
LDL Cholesterol	rs1800562	G	0.0492	30275531
LDL Cholesterol	rs941408	T	0.0163	30275531
LDL Cholesterol	rs769450	A	0.0605	30275531
LDL Cholesterol	rs10455872	G	0.0876	30275531
LDL Cholesterol	rs10893500	C	0.0427	30275531
LDL Cholesterol	rs5927	G	0.0299	30275531
LDL Cholesterol	rs115881343	T	0.1945	30275531
LDL Cholesterol	rs11571836	A	0.0213	30275531
LDL Cholesterol	rs13268	A	0.042	30275531
LDL Cholesterol	rs10062361	T	0.0245	30275531
LDL Cholesterol	rs4968839	T	0.0387	30275531
LDL Cholesterol	rs4704825	G	0.0279	30275531
LDL Cholesterol	rs3798220	C	0.1363	30275531
LDL Cholesterol	rs45508991	T	0.1064	30275531
LDL Cholesterol	rs10874746	C	0.0154	30275531
LDL Cholesterol	rs2792751	T	0.0262	30275531
LDL Cholesterol	rs12710745	A	0.02	30275531
LDL Cholesterol	rs2522056	G	0.0182	30275531
LDL Cholesterol	rs926663	A	0.0144	30275531
LDL Cholesterol	rs562556	A	0.1298	30275531
LDL Cholesterol	rs1891110	A	0.0212	30275531
LDL Cholesterol	rs6072328	C	0.0264	30275531
LDL Cholesterol	rs77960347	G	0.0797	30275531
LDL Cholesterol	rs3812945	C	0.015	30275531
LDL Cholesterol	rs8103315	A	0.0277	30275531
LDL Cholesterol	rs72852601	T	0.0481	30275531
LDL Cholesterol	rs1165222	G	0.1352	30275531
LDL Cholesterol	rs635634	T	0.075	30275531
LDL Cholesterol	rs77542162	G	0.1767	30275531
LDL Cholesterol	rs6511727	T	0.0202	30275531
LDL Cholesterol	rs217181	C	0.0494	30275531
LDL Cholesterol	rs6859	A	0.0783	30275531
LDL Cholesterol	rs9298506	G	0.0217	30275531
LDL Cholesterol	rs2737245	G	0.0179	30275531
LDL Cholesterol	rs2886232	T	0.0409	30275531
LDL Cholesterol	rs1652507	T	0.027	30275531
LDL Cholesterol	rs3905000	G	0.0179	30275531
LDL Cholesterol	rs1487971	C	0.0157	30275531
LDL Cholesterol	rs870992	G	0.0268	30275531
LDL Cholesterol	rs67710536	C	0.0267	30275531
LDL Cholesterol	rs10490626	G	0.0447	30275531
LDL Cholesterol	rs2745865	T	0.0387	30275531
LDL Cholesterol	rs10065787	G	0.0189	30275531
LDL Cholesterol	rs6502640	A	0.0195	30275531
LDL Cholesterol	rs72836561	C	0.0373	30275531
LDL Cholesterol	rs10489488	G	0.0934	30275531
LDL Cholesterol	rs138777	A	0.0125	30275531
LDL Cholesterol	rs2183573	G	0.0144	30275531
LDL Cholesterol	rs35803101	G	0.1387	30275531
LDL Cholesterol	rs7241918	T	0.0191	30275531
LDL Cholesterol	rs892115	G	0.0232	30275531
LDL Cholesterol	rs8104483	G	0.0874	30275531
LDL Cholesterol	rs35350976	G	0.0168	30275531
LDL Cholesterol	rs12748152	T	0.026	30275531
LDL Cholesterol	rs2143544	C	0.0165	30275531
LDL Cholesterol	rs11125936	T	0.0245	30275531
LDL Cholesterol	rs2287623	G	0.0181	30275531
LDL Cholesterol	rs2198562	C	0.0353	30275531
LDL Cholesterol	rs187706273	G	0.1081	30275531
LDL Cholesterol	rs10417443	C	0.0325	30275531
LDL Cholesterol	rs9376090	T	0.0275	30275531
LDL Cholesterol	rs7551981	T	0.0296	30275531
LDL Cholesterol	rs28555129	A	0.0134	30275531
Melanoma	rs4785763	A	0.1989	28212542
Melanoma	rs16891982	G	0.6931	28212542
Melanoma	rs6059655	A	0.3221	28212542
Melanoma	rs187843643	T	0.6729	28212542
Melanoma	rs7023329	A	0.1655	28212542
Melanoma	rs1393350	A	0.157	28212542
Melanoma	rs35407	G	0.734	28212542
Melanoma	rs910873	A	0.3075	28212542
Melanoma	rs62389423	A	0.2151	28212542
Melanoma	rs1805007	T	0.4055	28212542
Melanoma	rs1885120	C	0.3001	28212542
Melanoma	rs258322	A	0.2852	28212542
Melanoma	rs45430	T	0.1165	28212542
Multiple Sclerosis	rs6880778	G	0.1133	26343388 · 24076602
Multiple Sclerosis	rs756699	T	0.1133	26343388 · 24076602
Multiple Sclerosis	rs8070345	T	0.1133	26343388 · 24076602
Multiple Sclerosis	rs1813375	T	0.1398	26343388 · 24076602
Multiple Sclerosis	rs9828629	G	0.077	26343388 · 24076602
Multiple Sclerosis	rs7132277	T	0.1133	26343388 · 24076602
Multiple Sclerosis	rs2688608	T	0.0677	26343388 · 24076602
Multiple Sclerosis	rs212405	T	0.1133	26343388 · 24076602
Multiple Sclerosis	rs2256814	A	0.0862	26343388 · 24076602
Multiple Sclerosis	rs6498184	C	0.1398	26343388 · 24076602
Multiple Sclerosis	rs3135388	A	1.3661	26343388 · 24076602
Multiple Sclerosis	rs1843938	A	0.077	26343388 · 24076602
Multiple Sclerosis	rs1131265	C	0.157	26343388 · 24076602
Multiple Sclerosis	rs2726518	C	0.0677	26343388 · 24076602
Multiple Sclerosis	rs706015	G	0.0953	26343388 · 24076602
Multiple Sclerosis	rs1800693	C	0.131	26343388 · 24076602
Multiple Sclerosis	rs17785991	A	0.0677	26343388 · 24076602
Multiple Sclerosis	rs4796791	T	0.1133	26343388 · 24076602
Multiple Sclerosis	rs9989735	C	0.1484	26343388 · 24076602
Multiple Sclerosis	rs1036207	G	0.0677	26343388 · 24076602
Multiple Sclerosis	rs12946510	T	0.0677	26343388 · 24076602
Multiple Sclerosis	rs7769192	G	0.077	26343388 · 24076602
Multiple Sclerosis	rs2163226	T	0.1133	26343388 · 24076602
Multiple Sclerosis	rs7196953	A	0.0862	26343388 · 24076602
Multiple Sclerosis	rs4794058	T	0.0862	26343388 · 24076602
Multiple Sclerosis	rs2050568	C	0.077	26343388 · 24076602
Multiple Sclerosis	rs1077667	G	0.1484	26343388 · 24076602
Multiple Sclerosis	rs2104286	T	0.1989	26343388 · 24076602
Multiple Sclerosis	rs67297943	T	0.1044	26343388 · 24076602
Multiple Sclerosis	rs8107548	C	0.1044	26343388 · 24076602
Multiple Sclerosis	rs11554159	G	0.1398	26343388 · 24076602
Multiple Sclerosis	rs4976646	C	0.1133	26343388 · 24076602
Multiple Sclerosis	rs4665719	C	0.077	26343388 · 24076602
Multiple Sclerosis	rs34383631	T	0.1222	26343388 · 24076602
Multiple Sclerosis	rs11587876	T	0.0862	26343388 · 24076602
Multiple Sclerosis	rs1359062	C	0.1398	26343388 · 24076602
Multiple Sclerosis	rs1782645	A	0.0953	26343388 · 24076602
Multiple Sclerosis	rs694739	A	0.0677	26343388 · 24076602
Multiple Sclerosis	rs7552544	T	0.0953	26343388 · 24076602
Multiple Sclerosis	rs2229092	C	0.2852	26343388 · 24076602
Multiple Sclerosis	rs4780346	A	0.0862	26343388 · 24076602
Multiple Sclerosis	rs2283792	G	0.0953	26343388 · 24076602
Multiple Sclerosis	rs74796499	C	0.2776	26343388 · 24076602
Multiple Sclerosis	rs759648	C	0.077	26343388 · 24076602
Multiple Sclerosis	rs941816	G	0.1044	26343388 · 24076602
Multiple Sclerosis	rs12296430	C	0.1133	26343388 · 24076602
Multiple Sclerosis	rs17119	A	0.0953	26343388 · 24076602
Multiple Sclerosis	rs7595717	T	0.0953	26343388 · 24076602
Multiple Sclerosis	rs4810485	A	0.1044	26343388 · 24076602
Multiple Sclerosis	rs523604	A	0.0953	26343388 · 24076602
Multiple Sclerosis	rs8042861	A	0.0677	26343388 · 24076602
Multiple Sclerosis	rs3748817	T	0.131	26343388 · 24076602
Multiple Sclerosis	rs2248359	C	0.0862	26343388 · 24076602
Multiple Sclerosis	rs201202118	A	0.1222	26343388 · 24076602
Multiple Sclerosis	rs4679081	C	0.0677	26343388 · 24076602
Multiple Sclerosis	rs793108	T	0.077	26343388 · 24076602
Multiple Sclerosis	rs6881706	G	0.1133	26343388 · 24076602
Multiple Sclerosis	rs1870071	C	0.0953	26343388 · 24076602
Multiple Sclerosis	rs34536443	C	0.2546	26343388 · 24076602
Multiple Sclerosis	rs2255214	G	0.1222	26343388 · 24076602
Multiple Sclerosis	rs35929052	G	0.1398	26343388 · 24076602
Multiple Sclerosis	rs72928038	A	0.131	26343388 · 24076602
Multiple Sclerosis	rs4410871	C	0.1044	26343388 · 24076602
Multiple Sclerosis	rs12927355	C	0.1823	26343388 · 24076602
Multiple Sclerosis	rs4772201	A	0.0953	26343388 · 24076602
Multiple Sclerosis	rs7775055	C	0.4383	26343388 · 24076602
Multiple Sclerosis	rs7923837	G	0.1044	26343388 · 24076602
Multiple Sclerosis	rs11154801	A	0.1133	26343388 · 24076602
Multiple Sclerosis	rs9736016	T	0.0953	26343388 · 24076602
Multiple Sclerosis	rs7204270	G	0.0862	26343388 · 24076602
Multiple Sclerosis	rs9266773	T	0.2469	26343388 · 24076602
Multiple Sclerosis	rs12087340	T	0.1906	26343388 · 24076602
Multiple Sclerosis	rs9967792	C	0.0862	26343388 · 24076602
Multiple Sclerosis	rs59772922	T	0.0862	26343388 · 24076602
Multiple Sclerosis	rs7120737	G	0.0953	26343388 · 24076602
Multiple Sclerosis	rs3957146	C	0.2624	26343388 · 24076602
Multiple Sclerosis	rs7665090	G	0.0862	26343388 · 24076602
Multiple Sclerosis	rs1886700	T	0.0953	26343388 · 24076602
Multiple Sclerosis	rs3007421	A	0.1044	26343388 · 24076602
Multiple Sclerosis	rs2371108	T	0.0953	26343388 · 24076602
Multiple Sclerosis	rs1920296	C	0.1133	26343388 · 24076602
Multiple Sclerosis	rs6677309	A	0.2546	26343388 · 24076602
Multiple Sclerosis	rs4713274	G	0.3988	26343388 · 24076602
Multiple Sclerosis	rs60600003	C	0.1398	26343388 · 24076602
Multiple Sclerosis	rs917116	G	0.0862	26343388 · 24076602
Multiple Sclerosis	rs2288904	G	0.0953	26343388 · 24076602
Multiple Sclerosis	rs12149527	T	0.077	26343388 · 24076602
Multiple Sclerosis	rs1021156	T	0.1044	26343388 · 24076602
Multiple Sclerosis	rs9277565	T	0.2776	26343388 · 24076602
Multiple Sclerosis	rs2236262	A	0.077	26343388 · 24076602
Multiple Sclerosis	rs12148050	A	0.0862	26343388 · 24076602
Multiple Sclerosis	rs666930	C	0.077	26343388 · 24076602
Multiple Sclerosis	rs41286801	T	0.174	26343388 · 24076602
Multiple Sclerosis	rs11719975	C	0.077	26343388 · 24076602
Multiple Sclerosis	rs533646	G	0.0862	26343388 · 24076602
Multiple Sclerosis	rs11052877	G	0.0862	26343388 · 24076602
Multiple Sclerosis	rs71624119	G	0.1044	26343388 · 24076602
Multiple Sclerosis	rs1014486	C	0.1044	26343388 · 24076602
Multiple Sclerosis	rs35967351	A	0.0862	26343388 · 24076602
Multiple Sclerosis	rs842639	A	0.0953	26343388 · 24076602
Multiple Sclerosis	rs55838263	A	0.1222	26343388 · 24076602
Multiple Sclerosis	rs17066096	G	0.131	26343388 · 24076602
Pancreatic Cancer	rs4795218	G	0.1278	29422604
Pancreatic Cancer	rs401681	T	0.174	29422604
Pancreatic Cancer	rs16986825	T	0.1398	29422604
Pancreatic Cancer	rs17688601	C	0.1278	29422604
Pancreatic Cancer	rs1561927	T	0.1165	29422604
Pancreatic Cancer	rs73328514	A	0.1625	29422604
Pancreatic Cancer	rs920065566	C	0.239	29422604
Pancreatic Cancer	rs6971499	T	0.2107	29422604
Pancreatic Cancer	rs9854771	G	0.1054	29422604
Pancreatic Cancer	rs9543325	C	0.2151	29422604
Pancreatic Cancer	rs1486134	G	0.1222	29422604
Pancreatic Cancer	rs7190458	A	0.3075	29422604
Pancreatic Cancer	rs13303010	G	0.2311	29422604
Pancreatic Cancer	rs1517037	C	0.1484	29422604
Pancreatic Cancer	rs9581943	A	0.1398	29422604
Pancreatic Cancer	rs2736098	C	0.1744	29422604
Pancreatic Cancer	rs35226131	C	0.4005	29422604
Pancreatic Cancer	rs7214041	T	0.2231	29422604
Pancreatic Cancer	rs10094872	T	0.131	29422604
Pancreatic Cancer	rs2941471	A	0.1165	29422604
Pancreatic Cancer	rs3790844	A	0.2107	29422604
Pancreatic Cancer	rs2816938	A	0.1906	29422604
Parkinson's Disease	rs353116	C	0.0619	28892059
Parkinson's Disease	rs17649553	C	0.2485	28892059
Parkinson's Disease	rs591323	G	0.0943	28892059
Parkinson's Disease	rs117896735	A	0.5008	28892059
Parkinson's Disease	rs8005172	T	0.077	28892059
Parkinson's Disease	rs2694528	C	0.1398	28892059
Parkinson's Disease	rs356182	G	0.2852	28892059
Parkinson's Disease	rs9275326	C	0.1625	28892059
Parkinson's Disease	rs34884217	A	0.2086	28892059
Parkinson's Disease	rs78738012	C	0.1222	28892059
Parkinson's Disease	rs2280104	T	0.0677	28892059
Parkinson's Disease	rs6430538	C	0.1165	28892059
Parkinson's Disease	rs4073221	G	0.0953	28892059
Parkinson's Disease	rs76904798	T	0.1398	28892059
Parkinson's Disease	rs34637584	A	2.2638	28892059
Parkinson's Disease	rs4653767	T	0.0834	28892059
Parkinson's Disease	rs2230288	T	0.5008	28892059
Parkinson's Disease	rs11724635	A	0.1054	28892059
Parkinson's Disease	rs12497850	T	0.0726	28892059
Parkinson's Disease	rs329648	T	0.0862	28892059
Parkinson's Disease	rs10797576	T	0.1133	28892059
Parkinson's Disease	rs13294100	G	0.0834	28892059
Parkinson's Disease	rs143918452	A	0.3857	28892059
Parkinson's Disease	rs4784227	T	0.0862	28892059
Parkinson's Disease	rs9468199	A	0.1044	28892059
Parkinson's Disease	rs10906923	A	0.0726	28892059
Parkinson's Disease	rs823118	T	0.1165	28892059
Parkinson's Disease	rs12456492	G	0.0953	28892059
Parkinson's Disease	rs12637471	G	0.1625	28892059
Parkinson's Disease	rs2414739	A	0.0943	28892059
Parkinson's Disease	rs34311866	C	0.207	28892059
Parkinson's Disease	rs13201101	T	0.1697	28892059
Parkinson's Disease	rs14235	A	0.077	28892059
Parkinson's Disease	rs11060180	A	0.1054	28892059
Parkinson's Disease	rs6812193	C	0.0834	28892059
Parkinson's Disease	rs76763715	G	1.203	28892059
Parkinson's Disease	rs199347	A	0.0943	28892059
Parkinson's Disease	rs1474055	T	0.1863	28892059
Parkinson's Disease	rs3793947	G	0.0726	28892059
Parkinson's Disease	rs35749011	A	0.5447	28892059
Parkinson's Disease	rs11158026	C	0.0943	28892059
Parkinson's Disease	rs11343	T	0.0677	28892059
Parkinson's Disease	rs1555399	T	0.0862	28892059
Parkinson's Disease	rs7681154	C	0.0198	28892059
Parkinson's Disease	rs34043159	C	0.077	28892059
Parkinson's Disease	rs114138760	C	0.4181	28892059
Prostate Cancer	rs12500426	A	0.0677	29892016
Prostate Cancer	rs16901979	A	0.4447	29892016
Prostate Cancer	rs11649743	G	0.1222	29892016
Prostate Cancer	rs5799921	GA	0.0583	29892016
Prostate Cancer	rs10793821	T	0.0488	29892016
Prostate Cancer	rs9306895	C	0.077	29892016
Prostate Cancer	rs138213197	T	1.3481	29892016
Prostate Cancer	rs10875943	C	0.0677	29892016
Prostate Cancer	rs2292884	G	0.0583	29892016
Prostate Cancer	rs10936632	A	0.0953	29892016
Prostate Cancer	rs9364554	T	0.1044	29892016
Prostate Cancer	rs7968403	T	0.0583	29892016
Prostate Cancer	rs2680708	G	0.0488	29892016
Prostate Cancer	rs8102476	C	0.0862	29892016
Prostate Cancer	rs7679673	C	0.1222	29892016
Prostate Cancer	rs6062509	T	0.077	29892016
Prostate Cancer	rs1800057	G	0.1484	29892016
Prostate Cancer	rs1512268	T	0.131	29892016
Prostate Cancer	rs1218582	G	0.0488	29892016
Prostate Cancer	rs9469899	A	0.0488	29892016
Prostate Cancer	rs4711748	T	0.0488	29892016
Prostate Cancer	rs902774	A	0.1222	29892016
Prostate Cancer	rs56232506	A	0.0583	29892016
Prostate Cancer	rs1881502	T	0.0583	29892016
Prostate Cancer	rs2273669	G	0.0677	29892016
Prostate Cancer	rs7931342	G	0.157	29892016
Prostate Cancer	rs142436749	G	0.2231	29892016
Prostate Cancer	rs3096702	A	0.0583	29892016
Prostate Cancer	rs2066827	T	0.0583	29892016
Prostate Cancer	rs80130819	A	0.0953	29892016
Prostate Cancer	rs4713266	C	0.0488	29892016
Prostate Cancer	rs6763931	A	0.0392	29892016
Prostate Cancer	rs10993994	A	0.207	29892016
Prostate Cancer	rs10086908	T	0.1222	29892016
Prostate Cancer	rs12665339	G	0.0583	29892016
Prostate Cancer	rs2427345	C	0.0488	29892016
Prostate Cancer	rs2121875	C	0.0488	29892016
Prostate Cancer	rs6465657	C	0.1044	29892016
Prostate Cancer	rs1270884	A	0.0677	29892016
Prostate Cancer	rs11290954	AC	0.0583	29892016
Prostate Cancer	rs142444269	C	0.0677	29892016
Prostate Cancer	rs4245739	A	0.0953	29892016
Prostate Cancer	rs1859962	G	0.157	29892016
Prostate Cancer	rs10486567	G	0.131	29892016
Prostate Cancer	rs9287719	C	0.0677	29892016
Prostate Cancer	rs12543663	C	0.1133	29892016
Prostate Cancer	rs28607662	C	0.077	29892016
Prostate Cancer	rs76934034	T	0.1133	29892016
Prostate Cancer	rs6983267	G	0.1989	29892016
Prostate Cancer	rs12785905	C	0.1133	29892016
Prostate Cancer	rs2735839	G	0.1655	29892016
Prostate Cancer	rs7127900	A	0.174	29892016
Prostate Cancer	rs721048	A	0.0953	29892016
Prostate Cancer	rs8093601	C	0.0488	29892016
Prostate Cancer	rs1465618	T	0.0862	29892016
Prostate Cancer	rs138466039	T	0.2776	29892016
Prostate Cancer	rs28441558	C	0.1484	29892016
Prostate Cancer	rs533722308	CT	0.0488	29892016
Prostate Cancer	rs201158093	TA	0.0488	29892016
Prostate Cancer	rs9443189	A	0.0677	29892016
Prostate Cancer	rs1983891	T	0.0862	29892016
Prostate Cancer	rs56391074	AT	0.0488	29892016
Prostate Cancer	rs7611694	A	0.0862	29892016
Prostate Cancer	rs4430796	A	0.1989	29892016
Prostate Cancer	rs34925593	C	0.0488	29892016
Prostate Cancer	rs1283104	G	0.0488	29892016
Prostate Cancer	rs61890184	A	0.0677	29892016
Prostate Cancer	rs12621278	A	0.239	29892016
Prostate Cancer	rs11666569	C	0.0488	29892016
Prostate Cancer	rs10845938	G	0.0583	29892016
Prostate Cancer	rs2242652	G	0.157	29892016
Prostate Cancer	rs2277283	C	0.0583	29892016
Prostate Cancer	rs33984059	A	0.174	29892016
Prostate Cancer	rs7295014	G	0.0488	29892016
Prostate Cancer	rs4924487	C	0.0583	29892016
Prostate Cancer	rs17694493	G	0.077	29892016
Prostate Cancer	rs5759167	G	0.1398	29892016
Prostate Cancer	rs11629412	C	0.0583	29892016
Prostate Cancer	rs878987	G	0.0677	29892016
Prostate Cancer	rs1004030	T	0.0488	29892016
Prostate Cancer	rs10122495	T	0.0488	29892016
Prostate Cancer	rs11452686	T	0.0488	29892016
Prostate Cancer	rs11135910	T	0.077	29892016
Prostate Cancer	rs12480328	T	0.1044	29892016
Prostate Cancer	rs17321482	C	0.0677	29892016
Prostate Cancer	rs1182	A	0.0583	29892016
Prostate Cancer	rs11480453	C	0.0488	29892016
Prostate Cancer	rs17621345	A	0.0677	29892016
Prostate Cancer	rs74702681	T	0.157	29892016
Prostate Cancer	rs3129859	G	0.0583	29892016
Prostate Cancer	rs11650494	A	0.0953	29892016
Prostate Cancer	rs118005503	G	0.0862	29892016
Prostate Cancer	rs9625483	A	0.131	29892016
Prostate Cancer	rs62106670	T	0.0488	29892016
Prostate Cancer	rs112293876	C	0.0583	29892016
Prostate Cancer	rs76551843	A	0.27	29892016
Prostate Cancer	rs10187424	T	0.077	29892016
Prostate Cancer	rs339331	T	0.0862	29892016
Prostate Cancer	rs1894292	G	0.0583	29892016
Prostate Cancer	rs11568818	T	0.077	29892016
Prostate Cancer	rs9296068	T	0.0488	29892016
Prostate Cancer	rs5919432	T	0.0392	29892016
Prostate Cancer	rs1935581	C	0.0488	29892016
Prostate Cancer	rs4976790	T	0.077	29892016
Prostate Cancer	rs620861	G	0.1398	29892016
Prostate Cancer	rs684232	C	0.0862	29892016
Prostate Cancer	rs6091758	G	0.0677	29892016
Prostate Cancer	rs3850699	A	0.0677	29892016
Prostate Cancer	rs12956892	T	0.0488	29892016
Prostate Cancer	rs2660753	T	0.1222	29892016
Prostate Cancer	rs7767188	A	0.0583	29892016
Prostate Cancer	rs2928679	A	0.0488	29892016
Prostate Cancer	rs10009409	T	0.0583	29892016
Prostate Cancer	rs1447295	A	0.3436	29892016
Prostate Cancer	rs11672691	G	0.0953	29892016
Prostate Cancer	rs2405942	A	0.0488	29892016
Prostate Cancer	rs7241993	C	0.077	29892016
Prostate Cancer	rs183373024	G	1.0682	29892016
Prostate Cancer	rs10460109	T	0.0488	29892016
Prostate Cancer	rs11691517	T	0.0677	29892016
Prostate Cancer	rs17021918	C	0.0862	29892016
Prostate Cancer	rs5945619	C	0.1044	29892016
Prostate Cancer	rs1041449	G	0.0488	29892016
Prostate Cancer	rs8008270	C	0.0862	29892016
Prostate Cancer	rs10934853	A	0.0953	29892016
Prostate Cancer	rs11863709	C	0.1484	29892016
Prostate Cancer	rs11214775	G	0.0677	29892016
Prostate Cancer	rs12155172	A	0.0953	29892016
Prostate Cancer	rs7094871	G	0.0392	29892016
Prostate Cancer	rs1048169	C	0.0583	29892016
Prostate Cancer	rs2807031	C	0.0583	29892016
Prostate Cancer	rs4962416	C	0.0583	29892016
Prostate Cancer	rs3771570	T	0.0862	29892016
Prostate Cancer	rs17599629	G	0.0677	29892016
Prostate Cancer	rs7141529	C	0.0488	29892016
Prostate Cancer	rs1933488	A	0.077	29892016
Prostate Cancer	rs61088131	T	0.0583	29892016
Prostate Cancer	rs8014671	G	0.0488	29892016
Rheumatoid Arthritis	rs9826828	A	0.3646	24390342
Rheumatoid Arthritis	rs13385025	A	0.1044	24390342
Rheumatoid Arthritis	rs5987194	C	0.1484	24390342
Rheumatoid Arthritis	rs624988	T	0.0583	24390342
Rheumatoid Arthritis	rs74984480	T	0.1222	24390342
Rheumatoid Arthritis	rs947474	A	0.1044	24390342
Rheumatoid Arthritis	rs2317230	T	0.0677	24390342
Rheumatoid Arthritis	rs3806624	G	0.077	24390342
Rheumatoid Arthritis	rs706778	T	0.0953	24390342
Rheumatoid Arthritis	rs2301888	G	0.1222	24390342
Rheumatoid Arthritis	rs73081554	T	0.1655	24390342
Rheumatoid Arthritis	rs4780401	T	0.0677	24390342
Rheumatoid Arthritis	rs8026898	A	0.1398	24390342
Rheumatoid Arthritis	rs998731	T	0.077	24390342
Rheumatoid Arthritis	rs10790268	G	0.131	24390342
Rheumatoid Arthritis	rs45475795	G	0.131	24390342
Rheumatoid Arthritis	rs2105325	C	0.1133	24390342
Rheumatoid Arthritis	rs3824660	C	0.077	24390342
Rheumatoid Arthritis	rs331463	T	0.0953	24390342
Rheumatoid Arthritis	rs73194058	C	0.077	24390342
Rheumatoid Arthritis	rs11089637	C	0.077	24390342
Rheumatoid Arthritis	rs4409785	C	0.1133	24390342
Rheumatoid Arthritis	rs793108	T	0.077	24390342
Rheumatoid Arthritis	rs7752903	G	0.3221	24390342
Rheumatoid Arthritis	rs8083786	G	0.131	24390342
Rheumatoid Arthritis	rs11574914	A	0.1133	24390342
Rheumatoid Arthritis	rs9268839	G	0.8242	24390342
Rheumatoid Arthritis	rs10985070	C	0.077	24390342
Rheumatoid Arthritis	rs6715284	G	0.1398	24390342
Rheumatoid Arthritis	rs34695944	C	0.1133	24390342
Rheumatoid Arthritis	rs3218251	A	0.0677	24390342
Rheumatoid Arthritis	rs28411352	T	0.1044	24390342
Rheumatoid Arthritis	rs6732565	A	0.0677	24390342
Rheumatoid Arthritis	rs2671692	A	0.0677	24390342
Rheumatoid Arthritis	rs10028001	T	0.0583	24390342
Rheumatoid Arthritis	rs1571878	C	0.157	24390342
Rheumatoid Arthritis	rs968567	C	0.1133	24390342
Rheumatoid Arthritis	rs1516971	T	0.1398	24390342
Rheumatoid Arthritis	rs8133843	A	0.077	24390342
Rheumatoid Arthritis	rs11933540	C	0.1398	24390342
Rheumatoid Arthritis	rs17668708	C	0.1133	24390342
Rheumatoid Arthritis	rs10175798	A	0.077	24390342
Rheumatoid Arthritis	rs73013527	C	0.0862	24390342
Rheumatoid Arthritis	rs2451258	T	0.0953	24390342
Rheumatoid Arthritis	rs1950897	T	0.0953	24390342
Rheumatoid Arthritis	rs1633360	T	0.0677	24390342
Rheumatoid Arthritis	rs1877030	C	0.0862	24390342
Rheumatoid Arthritis	rs2664035	A	0.0677	24390342
Rheumatoid Arthritis	rs6479800	C	0.1044	24390342
Rheumatoid Arthritis	rs3087243	G	0.131	24390342
Rheumatoid Arthritis	rs508970	A	0.0677	24390342
Rheumatoid Arthritis	rs2561477	G	0.0862	24390342
Rheumatoid Arthritis	rs13330176	A	0.1133	24390342
Rheumatoid Arthritis	rs9378815	C	0.0862	24390342
Rheumatoid Arthritis	rs147868091	C	0.1044	24390342
Rheumatoid Arthritis	rs75409195	C	0.1133	24390342
Rheumatoid Arthritis	rs10774624	G	0.0862	24390342
Rheumatoid Arthritis	rs9372120	G	0.1044	24390342
Rheumatoid Arthritis	rs726288	T	0.131	24390342
Rheumatoid Arthritis	rs71508903	T	0.1484	24390342
Rheumatoid Arthritis	rs147622113	C	0.3853	24390342
Rheumatoid Arthritis	rs657075	A	0.0862	24390342
Rheumatoid Arthritis	rs8032939	C	0.1222	24390342
Rheumatoid Arthritis	rs909685	A	0.1222	24390342
Rheumatoid Arthritis	rs11605042	G	0.0583	24390342
Rheumatoid Arthritis	rs1858037	T	0.1044	24390342
Rheumatoid Arthritis	rs34536443	G	0.3784	24390342
Rheumatoid Arthritis	rs7731626	G	0.1906	24390342
Rheumatoid Arthritis	rs4272	G	0.0953	24390342
Rheumatoid Arthritis	rs9653442	C	0.1044	24390342
Rheumatoid Arthritis	rs1980422	C	0.1133	24390342
Rheumatoid Arthritis	rs12140275	A	0.1044	24390342
Rheumatoid Arthritis	rs3783782	A	0.131	24390342
Rheumatoid Arthritis	rs13142500	C	0.0953	24390342
Rheumatoid Arthritis	rs67250450	T	0.0953	24390342
Rheumatoid Arthritis	rs138193887	A	0.1906	24390342
Rheumatoid Arthritis	rs17264332	G	0.157	24390342
Rheumatoid Arthritis	rs2469434	C	0.0677	24390342
Rheumatoid Arthritis	rs678347	G	0.077	24390342
Rheumatoid Arthritis	rs2234067	C	0.1398	24390342
Rheumatoid Arthritis	rs9603616	C	0.0953	24390342
Rheumatoid Arthritis	rs2228145	A	0.077	24390342
Rheumatoid Arthritis	rs4239702	C	0.1222	24390342
Rheumatoid Arthritis	rs2476601	A	0.5878	24390342
Rheumatoid Arthritis	rs773125	A	0.0862	24390342
Rheumatoid Arthritis	rs11889341	T	0.1222	24390342
Rheumatoid Arthritis	rs2233424	T	0.2311	24390342
Rheumatoid Arthritis	rs72634030	A	0.1133	24390342
Rheumatoid Arthritis	rs227163	C	0.0392	24390342
Rheumatoid Arthritis	rs12413578	C	0.1823	24390342
Rheumatoid Arthritis	rs4452313	T	0.0862	24390342
Rheumatoid Arthritis	rs2582532	C	0.157	24390342
Rheumatoid Arthritis	rs72717009	T	0.1222	24390342
Rheumatoid Arthritis	rs1893592	A	0.1044	24390342
Schizophrenia	rs4936215	A	0.0917	29483656
Schizophrenia	rs12908161	A	0.0667	29483656
Schizophrenia	rs4820386	T	0.0583	29483656
Schizophrenia	rs7508148	T	0.077	29483656
Schizophrenia	rs28374258	A	0.0733	29483656
Schizophrenia	rs1120004	T	0.062	29483656
Schizophrenia	rs17465671	C	0.0575	29483656
Schizophrenia	rs324015	C	0.0677	29483656
Schizophrenia	rs10148671	C	0.0629	29483656
Schizophrenia	rs869060898	T	0.0646	29483656
Schizophrenia	rs5795787	G	0.0545	29483656
Schizophrenia	rs1319017	A	0.0661	29483656
Schizophrenia	rs6694545	A	0.077	29483656
Schizophrenia	rs2410572	G	0.0546	29483656
Schizophrenia	rs77011057	A	0.1098	29483656
Schizophrenia	rs56282503	C	0.0619	29483656
Schizophrenia	rs12293670	A	0.0807	29483656
Schizophrenia	rs7789569	T	0.0649	29483656
Schizophrenia	rs760608	G	0.0607	29483656
Schizophrenia	rs80020004	T	0.0862	29483656
Schizophrenia	rs13107325	T	0.1602	29483656
Schizophrenia	rs6002655	T	0.0747	29483656
Schizophrenia	rs4766428	T	0.0758	29483656
Schizophrenia	rs12823424	A	0.0639	29483656
Schizophrenia	rs16902086	G	0.0661	29483656
Schizophrenia	rs783540	G	0.059	29483656
Schizophrenia	rs7801375	G	0.0769	29483656
Schizophrenia	rs11993663	A	0.0552	29483656
Schizophrenia	rs7225476	A	0.052	29483656
Schizophrenia	rs7499750	A	0.0705	29483656
Schizophrenia	rs75575209	T	0.0953	29483656
Schizophrenia	rs36043959	G	0.0677	29483656
Schizophrenia	rs12148337	T	0.0823	29483656
Schizophrenia	rs3743078	G	0.078	29483656
Schizophrenia	rs6680011	C	0.0735	29483656
Schizophrenia	rs61937595	C	0.1249	29483656
Schizophrenia	rs111294930	A	0.0825	29483656
Schizophrenia	rs2851447	G	0.0871	29483656
Schizophrenia	rs1789595	A	0.0658	29483656
Schizophrenia	rs10803138	G	0.0677	29483656
Schizophrenia	rs14403	C	0.0742	29483656
Schizophrenia	rs10196799	A	0.0564	29483656
Schizophrenia	rs1080500	G	0.0723	29483656
Schizophrenia	rs10783624	C	0.0597	29483656
Schizophrenia	rs13169274	C	0.0597	29483656
Schizophrenia	rs12898315	A	0.0566	29483656
Schizophrenia	rs6065094	G	0.0856	29483656
Schizophrenia	rs42945	G	0.0629	29483656
Schizophrenia	rs7099380	G	0.0871	29483656
Schizophrenia	rs7951870	C	0.0932	29483656
Schizophrenia	rs4936277	A	0.0564	29483656
Schizophrenia	rs2053079	G	0.0704	29483656
Schizophrenia	rs3735025	T	0.0649	29483656
Schizophrenia	rs7596038	C	0.0677	29483656
Schizophrenia	rs17514846	C	0.0683	29483656
Schizophrenia	rs6800435	A	0.0823	29483656
Schizophrenia	rs34179565	C	0.0558	29483656
Schizophrenia	rs79212538	T	0.1398	29483656
Schizophrenia	rs893949	C	0.0534	29483656
Schizophrenia	rs10520163	C	0.0534	29483656
Schizophrenia	rs28758902	T	0.0677	29483656
Schizophrenia	rs4240748	G	0.0555	29483656
Schizophrenia	rs1473594	T	0.0639	29483656
Schizophrenia	rs1023497	C	0.0816	29483656
Schizophrenia	rs2905432	G	0.0686	29483656
Schizophrenia	rs1042992	T	0.0733	29483656
Schizophrenia	rs75968099	T	0.0661	29483656
Schizophrenia	rs7701440	C	0.0726	29483656
Schizophrenia	rs55672338	A	0.0583	29483656
Schizophrenia	rs77853293	C	0.0546	29483656
Schizophrenia	rs4470825	G	0.0556	29483656
Schizophrenia	rs35604463	G	0.0564	29483656
Schizophrenia	rs2007044	G	0.0888	29483656
Schizophrenia	rs12129573	A	0.0769	29483656
Schizophrenia	rs7432375	A	0.0801	29483656
Schizophrenia	rs146678232	C	0.0704	29483656
Schizophrenia	rs1347692	C	0.0602	29483656
Schizophrenia	rs12009217	G	0.0651	29483656
Schizophrenia	rs55669358	C	0.0949	29483656
Schizophrenia	rs72769124	A	0.1088	29483656
Schizophrenia	rs56145559	T	0.0716	29483656
Schizophrenia	rs281299	T	0.0552	29483656
Schizophrenia	rs211829	T	0.0592	29483656
Schizophrenia	rs56807175	TC	0.0877	29483656
Schizophrenia	rs10985817	C	0.0801	29483656
Schizophrenia	rs67439964	T	0.0723	29483656
Schizophrenia	rs139425113	GA	0.0661	29483656
Schizophrenia	rs9545047	A	0.056	29483656
Schizophrenia	rs1975802	G	0.0694	29483656
Schizophrenia	rs312477	G	0.0652	29483656
Schizophrenia	rs2565065	A	0.0639	29483656
Schizophrenia	rs6035706	G	0.0597	29483656
Schizophrenia	rs1451488	G	0.0672	29483656
Schizophrenia	rs2917569	T	0.061	29483656
Schizophrenia	rs4925114	A	0.0564	29483656
Schizophrenia	rs147922658	TAAG	0.1621	29483656
Schizophrenia	rs9881798	A	0.053	29483656
Schizophrenia	rs2332700	C	0.0705	29483656
Schizophrenia	rs11409090	AT	0.0597	29483656
Schizophrenia	rs1899543	T	0.0576	29483656
Schizophrenia	rs55770408	C	0.0583	29483656
Schizophrenia	rs62334820	T	0.0812	29483656
Schizophrenia	rs10083370	G	0.0751	29483656
Schizophrenia	rs11646127	G	0.0705	29483656
Schizophrenia	rs2970610	T	0.0677	29483656
Schizophrenia	rs11783093	C	0.0935	29483656
Schizophrenia	rs10650434	ACT	0.0856	29483656
Schizophrenia	rs4648845	T	0.0769	29483656
Schizophrenia	rs58950470	T	0.0574	29483656
Schizophrenia	rs6678676	C	0.0654	29483656
Schizophrenia	rs9611177	C	0.0583	29483656
Schizophrenia	rs7191183	C	0.0597	29483656
Schizophrenia	rs72986630	T	0.14	29483656
Schizophrenia	rs16867576	A	0.1007	29483656
Schizophrenia	rs12705761	G	0.0658	29483656
Schizophrenia	rs634940	T	0.0633	29483656
Schizophrenia	rs12498839	A	0.131	29483656
Schizophrenia	rs1353545	C	0.0591	29483656
Schizophrenia	rs1339227	C	0.063	29483656
Schizophrenia	rs13121251	T	0.0574	29483656
Schizophrenia	rs12522290	C	0.0797	29483656
Schizophrenia	rs34796896	G	0.0834	29483656
Schizophrenia	rs2910032	C	0.063	29483656
Schizophrenia	rs215411	A	0.0576	29483656
Schizophrenia	rs704373	A	0.0649	29483656
Schizophrenia	rs6434928	G	0.0733	29483656
Schizophrenia	rs12991836	C	0.0608	29483656
Schizophrenia	rs1191551	T	0.0733	29483656
Schizophrenia	rs35346733	C	0.0723	29483656
Schizophrenia	rs4523180	T	0.1017	29483656
Schizophrenia	rs489939	G	0.057	29483656
Schizophrenia	rs7632921	G	0.0566	29483656
Schizophrenia	rs7010876	T	0.062	29483656
Schizophrenia	rs2077586	A	0.0615	29483656
Schizophrenia	rs12704290	G	0.1142	29483656
Schizophrenia	rs254782	G	0.1258	29483656
Schizophrenia	rs12129719	A	0.0542	29483656
Schizophrenia	rs140505938	C	0.0834	29483656
Schizophrenia	rs4650963	T	0.0545	29483656
Schizophrenia	rs12712510	T	0.0576	29483656
Schizophrenia	rs2161711	A	0.0699	29483656
Schizophrenia	rs36104021	C	0.0903	29483656
Schizophrenia	rs1765142	A	0.0576	29483656
Schizophrenia	rs144158419	C	0.1328	29483656
Schizophrenia	rs4976967	G	0.0649	29483656
Schizophrenia	rs4144797	T	0.0816	29483656
Schizophrenia	rs35736453	TC	0.0606	29483656
Schizophrenia	rs12416331	T	0.1458	29483656
Schizophrenia	rs76432012	T	0.1398	29483656
Schizophrenia	rs12447542	A	0.0854	29483656
Schizophrenia	rs2660304	T	0.1087	29483656
Schizophrenia	rs7893279	T	0.1115	29483656
Schizophrenia	rs5825114	GA	0.0726	29483656
Schizophrenia	rs11165867	T	0.0694	29483656
Schizophrenia	rs9607782	A	0.0812	29483656
Schizophrenia	rs66791238	T	0.0695	29483656
Schizophrenia	rs2949006	T	0.0998	29483656
Schizophrenia	rs79926379	G	0.1655	29483656
Schizophrenia	rs217287	C	0.0695	29483656
Schizophrenia	rs56775891	T	0.0666	29483656
Thyroid Cancer	rs2289261	C	0.207	28195142
Thyroid Cancer	rs12129938	A	0.2776	28195142
Thyroid Cancer	rs2466076	G	0.2776	28195142
Thyroid Cancer	rs73227498	A	0.3148	28195142
Thyroid Cancer	rs56062135	T	0.2151	28195142
Thyroid Cancer	rs7902587	T	0.3436	28195142
Thyroid Cancer	rs116909374	T	0.5933	28195142
Thyroid Cancer	rs6793295	T	0.207	28195142
Thyroid Cancer	rs368187	G	0.3293	28195142
Thyroid Cancer	rs1588635	A	0.5247	28195142
Total Cholesterol	rs6589566	G	0.0856	30275531
Total Cholesterol	rs3184504	C	0.0291	30275531
Total Cholesterol	rs217378	A	0.0142	30275531
Total Cholesterol	rs34171271	T	0.0473	30275531
Total Cholesterol	rs13329672	T	0.0246	30275531
Total Cholesterol	rs11790326	T	0.042	30275531
Total Cholesterol	rs11563251	T	0.0247	30275531
Total Cholesterol	rs2290159	G	0.0157	30275531
Total Cholesterol	rs217181	C	0.0507	30275531
Total Cholesterol	rs1979848	A	0.0251	30275531
Total Cholesterol	rs293429	C	0.0175	30275531
Total Cholesterol	rs8017377	A	0.0187	30275531
Total Cholesterol	rs61361928	T	0.1057	30275531
Total Cholesterol	rs28929474	T	0.0688	30275531
Total Cholesterol	rs512535	T	0.0289	30275531
Total Cholesterol	rs870992	G	0.0252	30275531
Total Cholesterol	rs4142393	T	0.0172	30275531
Total Cholesterol	rs10466533	G	0.04	30275531
Total Cholesterol	rs61194703	A	0.1693	30275531
Total Cholesterol	rs2298428	C	0.0229	30275531
Total Cholesterol	rs2980876	C	0.0892	30275531
Total Cholesterol	rs7197453	C	0.0244	30275531
Total Cholesterol	rs1487971	C	0.0178	30275531
Total Cholesterol	rs28362459	C	0.0226	30275531
Total Cholesterol	rs737337	T	0.0297	30275531
Total Cholesterol	rs7013120	G	0.0146	30275531
Total Cholesterol	rs4773173	A	0.0158	30275531
Total Cholesterol	rs6547829	T	0.0249	30275531
Total Cholesterol	rs3786725	G	0.0248	30275531
Total Cholesterol	rs59325138	T	0.0259	30275531
Total Cholesterol	rs1367113	A	0.0692	30275531
Total Cholesterol	rs10184054	G	0.0359	30275531
Total Cholesterol	rs12130333	C	0.0455	30275531
Total Cholesterol	rs2305535	G	0.0155	30275531
Total Cholesterol	rs4704820	T	0.0191	30275531
Total Cholesterol	rs7640978	C	0.0314	30275531
Total Cholesterol	rs9298506	G	0.0228	30275531
Total Cholesterol	rs45508991	T	0.0833	30275531
Total Cholesterol	rs16844401	A	0.024	30275531
Total Cholesterol	rs12039115	C	0.0685	30275531
Total Cholesterol	rs7305599	A	0.0113	30275531
Total Cholesterol	rs12710260	C	0.0301	30275531
Total Cholesterol	rs2035816	A	0.025	30275531
Total Cholesterol	rs5104	C	0.0283	30275531
Total Cholesterol	rs1997243	G	0.0294	30275531
Total Cholesterol	rs2603188	C	0.0184	30275531
Total Cholesterol	rs17651629	C	0.0311	30275531
Total Cholesterol	rs4253772	T	0.0205	30275531
Total Cholesterol	rs78933755	A	0.033	30275531
Total Cholesterol	rs3927680	T	0.012	30275531
Total Cholesterol	rs10490626	G	0.041	30275531
Total Cholesterol	rs12713844	C	0.0616	30275531
Total Cholesterol	rs2521567	G	0.0167	30275531
Total Cholesterol	rs117623631	T	0.2665	30275531
Total Cholesterol	rs13107325	C	0.0361	30275531
Total Cholesterol	rs1801702	C	0.0941	30275531
Total Cholesterol	rs11125936	T	0.0214	30275531
Total Cholesterol	rs17203281	G	0.0181	30275531
Total Cholesterol	rs144787122	G	0.1223	30275531
Total Cholesterol	rs6717803	A	0.0594	30275531
Total Cholesterol	rs4680585	A	0.0191	30275531
Total Cholesterol	rs11603023	T	0.0135	30275531
Total Cholesterol	rs3809868	G	0.017	30275531
Total Cholesterol	rs2081687	T	0.0333	30275531
Total Cholesterol	rs12270837	A	0.0402	30275531
Total Cholesterol	rs7157785	T	0.0175	30275531
Total Cholesterol	rs11206508	A	0.0204	30275531
Total Cholesterol	rs77542162	G	0.1364	30275531
Total Cholesterol	rs1042034	T	0.0512	30275531
Total Cholesterol	rs4752805	G	0.0239	30275531
Total Cholesterol	rs2068888	G	0.021	30275531
Total Cholesterol	rs7585590	C	0.0151	30275531
Total Cholesterol	rs2745865	T	0.0242	30275531
Total Cholesterol	rs2287623	G	0.0191	30275531
Total Cholesterol	rs7846135	A	0.0488	30275531
Total Cholesterol	rs41274050	T	0.093	30275531
Total Cholesterol	rs12320328	A	0.0269	30275531
Total Cholesterol	rs7298565	A	0.0161	30275531
Total Cholesterol	rs7203984	A	0.0377	30275531
Total Cholesterol	rs202046887	C	0.5371	30275531
Total Cholesterol	rs75998532	T	0.0774	30275531
Total Cholesterol	rs10489488	G	0.093	30275531
Total Cholesterol	rs16844364	A	0.0255	30275531
Total Cholesterol	rs17532301	G	0.0294	30275531
Total Cholesterol	rs4530754	A	0.0151	30275531
Total Cholesterol	rs1521516	C	0.0161	30275531
Total Cholesterol	rs10260606	C	0.0344	30275531
Total Cholesterol	rs1429972	C	0.0486	30275531
Total Cholesterol	rs2721965	A	0.0209	30275531
Total Cholesterol	rs4745	A	0.0116	30275531
Total Cholesterol	rs6502640	A	0.021	30275531
Total Cholesterol	rs1473886	G	0.0243	30275531
Total Cholesterol	rs932372	A	0.0199	30275531
Total Cholesterol	rs2282894	T	0.0172	30275531
Total Cholesterol	rs3780181	A	0.0293	30275531
Total Cholesterol	rs4968839	T	0.0303	30275531
Total Cholesterol	rs16928809	G	0.0211	30275531
Total Cholesterol	rs970548	C	0.0179	30275531
Total Cholesterol	rs1077514	T	0.0254	30275531
Total Cholesterol	rs6435161	T	0.0277	30275531
Total Cholesterol	rs6882076	C	0.044	30275531
Total Cholesterol	rs7252293	C	0.0294	30275531
Total Cholesterol	rs630431	A	0.0306	30275531
Total Cholesterol	rs12939848	C	0.0146	30275531
Total Cholesterol	rs8106922	G	0.039	30275531
Total Cholesterol	rs28594460	G	0.0597	30275531
Total Cholesterol	rs170041	T	0.0167	30275531
Total Cholesterol	rs4883201	A	0.0296	30275531
Total Cholesterol	rs2111485	A	0.0141	30275531
Total Cholesterol	rs12912415	A	0.0249	30275531
Total Cholesterol	rs16963468	C	0.0285	30275531
Total Cholesterol	rs16937390	C	0.0382	30275531
Total Cholesterol	rs17765311	C	0.0174	30275531
Total Cholesterol	rs1800478	G	0.122	30275531
Total Cholesterol	rs35844368	T	0.0252	30275531
Total Cholesterol	rs2875967	A	0.0163	30275531
Total Cholesterol	rs6557781	C	0.0201	30275531
Total Cholesterol	rs7589059	C	0.0165	30275531
Total Cholesterol	rs35259348	C	0.0169	30275531
Total Cholesterol	rs1035140	A	0.0138	30275531
Total Cholesterol	rs7903137	T	0.0259	30275531
Total Cholesterol	rs1169288	C	0.0359	30275531
Total Cholesterol	rs35803101	G	0.1288	30275531
Total Cholesterol	rs3736946	A	0.0246	30275531
Total Cholesterol	rs11660468	T	0.0187	30275531
Total Cholesterol	rs9646133	G	0.0149	30275531
Total Cholesterol	rs12968116	T	0.0183	30275531
Total Cholesterol	rs1160985	C	0.1167	30275531
Total Cholesterol	rs2391199	C	0.0232	30275531
Total Cholesterol	rs10797566	T	0.0165	30275531
Total Cholesterol	rs11595267	C	0.0177	30275531
Total Cholesterol	rs6054	T	0.1303	30275531
Total Cholesterol	rs2886232	T	0.0321	30275531
Total Cholesterol	rs7240405	G	0.0387	30275531
Total Cholesterol	rs13019116	C	0.0188	30275531
Total Cholesterol	rs8111069	C	0.0173	30275531
Total Cholesterol	rs289719	T	0.0182	30275531
Total Cholesterol	rs2274224	G	0.0171	30275531
Total Cholesterol	rs73015007	A	0.0512	30275531
Total Cholesterol	rs887829	C	0.0197	30275531
Total Cholesterol	rs4926670	C	0.0569	30275531
Total Cholesterol	rs838880	C	0.0144	30275531
Total Cholesterol	rs4802307	G	0.0158	30275531
Total Cholesterol	rs11708067	A	0.0151	30275531
Total Cholesterol	rs2230808	C	0.0191	30275531
Total Cholesterol	rs17730649	A	0.0258	30275531
Total Cholesterol	rs7866925	T	0.0177	30275531
Total Cholesterol	rs5927	G	0.0456	30275531
Total Cholesterol	rs17050272	G	0.0198	30275531
Total Cholesterol	rs7703051	A	0.0599	30275531
Total Cholesterol	rs581080	C	0.0182	30275531
Total Cholesterol	rs814295	A	0.0534	30275531
Total Cholesterol	rs12572599	T	0.0183	30275531
Total Cholesterol	rs1800977	A	0.0173	30275531
Total Cholesterol	rs871841	C	0.015	30275531
Total Cholesterol	rs1127796	C	0.0144	30275531
Total Cholesterol	rs732841	A	0.0403	30275531
Total Cholesterol	rs12740374	G	0.1341	30275531
Total Cholesterol	rs314253	T	0.0176	30275531
Total Cholesterol	rs7616006	A	0.0238	30275531
Total Cholesterol	rs4622454	T	0.0153	30275531
Total Cholesterol	rs2517957	A	0.0174	30275531
Total Cholesterol	rs780090	T	0.0329	30275531
Total Cholesterol	rs10888896	C	0.0249	30275531
Total Cholesterol	rs405509	T	0.0622	30275531
Total Cholesterol	rs7952602	C	0.0356	30275531
Total Cholesterol	rs4683438	G	0.0199	30275531
Total Cholesterol	rs11855284	C	0.041	30275531
Total Cholesterol	rs1961957	G	0.0163	30275531
Total Cholesterol	rs12670798	C	0.0294	30275531
Total Cholesterol	rs2183573	G	0.0165	30275531
Total Cholesterol	rs10750215	T	0.024	30275531
Total Cholesterol	rs704	A	0.0118	30275531
Total Cholesterol	rs2479409	G	0.0247	30275531
Total Cholesterol	rs12602912	T	0.0171	30275531
Total Cholesterol	rs13315871	G	0.0292	30275531
Total Cholesterol	rs11774381	C	0.0309	30275531
Total Cholesterol	rs16831235	A	0.0161	30275531
Total Cholesterol	rs10208987	T	0.0417	30275531
Total Cholesterol	rs11700250	C	0.0334	30275531
Total Cholesterol	rs11789603	T	0.0706	30275531
Total Cholesterol	rs558971	G	0.0387	30275531
Total Cholesterol	rs515135	C	0.0803	30275531
Total Cholesterol	rs10282707	C	0.0132	30275531
Total Cholesterol	rs439401	C	0.027	30275531
Total Cholesterol	rs10773003	A	0.0369	30275531
Total Cholesterol	rs10846744	C	0.0201	30275531
Total Cholesterol	rs8060686	C	0.021	30275531
Total Cholesterol	rs440677	G	0.0134	30275531
Total Cholesterol	rs9938550	A	0.0139	30275531
Total Cholesterol	rs847812	G	0.0147	30275531
Total Cholesterol	rs115881343	T	0.1384	30275531
Total Cholesterol	rs4149311	T	0.0449	30275531
Total Cholesterol	rs17008917	G	0.0199	30275531
Total Cholesterol	rs4850047	T	0.02	30275531
Total Cholesterol	rs4722551	C	0.023	30275531
Total Cholesterol	rs7002551	T	0.031	30275531
Total Cholesterol	rs6752551	T	0.033	30275531
Total Cholesterol	rs77960347	G	0.1804	30275531
Total Cholesterol	rs505151	G	0.0798	30275531
Total Cholesterol	rs4134379	A	0.0267	30275531
Total Cholesterol	rs9901673	C	0.0178	30275531
Total Cholesterol	rs1881116	C	0.0194	30275531
Total Cholesterol	rs11669576	A	0.0773	30275531
Total Cholesterol	rs157582	T	0.0689	30275531
Total Cholesterol	rs2792751	T	0.0239	30275531
Total Cholesterol	rs1998013	C	0.1677	30275531
Total Cholesterol	rs17134533	G	0.0202	30275531
Total Cholesterol	rs72786786	A	0.0415	30275531
Total Cholesterol	rs6547409	C	0.0832	30275531
Total Cholesterol	rs769450	A	0.1239	30275531
Total Cholesterol	rs7859362	T	0.0162	30275531
Total Cholesterol	rs12104449	G	0.0255	30275531
Total Cholesterol	rs3135506	C	0.0778	30275531
Total Cholesterol	rs499974	C	0.0154	30275531
Total Cholesterol	rs2862954	C	0.0138	30275531
Total Cholesterol	rs4129767	A	0.0173	30275531
Total Cholesterol	rs635634	T	0.071	30275531
Total Cholesterol	rs4148218	G	0.0522	30275531
Total Cholesterol	rs9302635	T	0.0543	30275531
Total Cholesterol	rs2469202	A	0.0148	30275531
Total Cholesterol	rs9955201	A	0.0426	30275531
Total Cholesterol	rs11207993	C	0.0323	30275531
Total Cholesterol	rs3812316	C	0.0191	30275531
Total Cholesterol	rs7604798	C	0.0346	30275531
Triglycerides	rs541041	A	0.0232	30275531
Triglycerides	rs7940646	C	0.0152	30275531
Triglycerides	rs6831256	G	0.0141	30275531
Triglycerides	rs3110454	C	0.0166	30275531
Triglycerides	rs41302559	G	0.1447	30275531
Triglycerides	rs4410790	C	0.0121	30275531
Triglycerides	rs1126673	T	0.0178	30275531
Triglycerides	rs619054	G	0.0567	30275531
Triglycerides	rs1919128	G	0.0457	30275531
Triglycerides	rs17091905	G	0.0416	30275531
Triglycerides	rs8123864	C	0.0436	30275531
Triglycerides	rs10889353	A	0.0752	30275531
Triglycerides	rs61730763	A	0.19	30275531
Triglycerides	rs4240624	G	0.0342	30275531
Triglycerides	rs940904	A	0.0153	30275531
Triglycerides	rs2055491	C	0.0118	30275531
Triglycerides	rs1045241	C	0.0172	30275531
Triglycerides	rs1053328	T	0.0138	30275531
Triglycerides	rs147073127	C	0.2135	30275531
Triglycerides	rs2292642	C	0.0207	30275531
Triglycerides	rs925946	T	0.0164	30275531
Triglycerides	rs8180991	G	0.0345	30275531
Triglycerides	rs4976033	G	0.016	30275531
Triglycerides	rs7157785	T	0.0201	30275531
Triglycerides	rs2049019	C	0.0138	30275531
Triglycerides	rs2524060	C	0.0285	30275531
Triglycerides	rs6882076	C	0.0417	30275531
Triglycerides	rs5104	C	0.0354	30275531
Triglycerides	rs74360954	C	0.113	30275531
Triglycerides	rs10832027	A	0.0161	30275531
Triglycerides	rs4245791	C	0.017	30275531
Triglycerides	rs2079005	G	0.0219	30275531
Triglycerides	rs1862644	C	0.0168	30275531
Triglycerides	rs12740374	G	0.0153	30275531
Triglycerides	rs2943650	T	0.0424	30275531
Triglycerides	rs2000999	A	0.0203	30275531
Triglycerides	rs287621	T	0.0223	30275531
Triglycerides	rs12799766	A	0.042	30275531
Triglycerides	rs7621025	C	0.0212	30275531
Triglycerides	rs490262	G	0.0186	30275531
Triglycerides	rs2298117	T	0.0122	30275531
Triglycerides	rs11216168	G	0.0694	30275531
Triglycerides	rs2075260	A	0.0147	30275531
Triglycerides	rs11237471	C	0.0217	30275531
Triglycerides	rs2000571	A	0.0633	30275531
Triglycerides	rs7400722	A	0.0155	30275531
Triglycerides	rs1861410	C	0.0156	30275531
Triglycerides	rs3735080	T	0.016	30275531
Triglycerides	rs897453	C	0.0142	30275531
Triglycerides	rs35665085	A	0.0317	30275531
Triglycerides	rs312	C	0.0476	30275531
Triglycerides	rs10748579	G	0.0178	30275531
Triglycerides	rs718314	G	0.0192	30275531
Triglycerides	rs765751	C	0.0195	30275531
Triglycerides	rs59325138	C	0.04	30275531
Triglycerides	rs11871606	A	0.0163	30275531
Triglycerides	rs143292359	A	0.2415	30275531
Triglycerides	rs1997833	C	0.0158	30275531
Triglycerides	rs2792751	C	0.0177	30275531
Triglycerides	rs6054	T	0.1234	30275531
Triglycerides	rs3757838	A	0.0299	30275531
Triglycerides	rs7081888	G	0.0329	30275531
Triglycerides	rs1662750	G	0.0176	30275531
Triglycerides	rs7134375	C	0.0143	30275531
Triglycerides	rs2415168	A	0.0154	30275531
Triglycerides	rs2727271	T	0.0646	30275531
Triglycerides	rs3742004	A	0.0161	30275531
Triglycerides	rs17747633	G	0.0145	30275531
Triglycerides	rs6855363	T	0.0165	30275531
Triglycerides	rs1982768	C	0.022	30275531
Triglycerides	rs662799	G	0.1059	30275531
Triglycerides	rs16884656	C	0.0242	30275531
Triglycerides	rs2426428	C	0.0308	30275531
Triglycerides	rs2032915	C	0.0173	30275531
Triglycerides	rs3769823	G	0.0138	30275531
Triglycerides	rs114139997	G	0.3646	30275531
Triglycerides	rs78807370	G	0.0433	30275531
Triglycerides	rs1688030	C	0.0334	30275531
Triglycerides	rs4705986	T	0.034	30275531
Triglycerides	rs6025606	C	0.013	30275531
Triglycerides	rs799158	T	0.0756	30275531
Triglycerides	rs7901016	C	0.0396	30275531
Triglycerides	rs2980876	C	0.0911	30275531
Triglycerides	rs140744493	C	0.121	30275531
Triglycerides	rs1037814	C	0.0245	30275531
Triglycerides	rs28399653	A	0.0405	30275531
Triglycerides	rs10846744	C	0.0272	30275531
Triglycerides	rs17730649	A	0.0215	30275531
Triglycerides	rs16949992	G	0.0745	30275531
Triglycerides	rs643381	C	0.0236	30275531
Triglycerides	rs11858955	C	0.1145	30275531
Triglycerides	rs1801282	C	0.0339	30275531
Triglycerides	rs115289288	C	0.2216	30275531
Triglycerides	rs1652343	T	0.0156	30275531
Triglycerides	rs1211644	T	0.0237	30275531
Triglycerides	rs17178414	T	0.0188	30275531
Triglycerides	rs3853818	T	0.0158	30275531
Triglycerides	rs9271366	A	0.0279	30275531
Triglycerides	rs1011731	G	0.0132	30275531
Triglycerides	rs11057408	G	0.0222	30275531
Triglycerides	rs12602912	T	0.0229	30275531
Triglycerides	rs174587	T	0.0481	30275531
Triglycerides	rs4938289	T	0.0475	30275531
Triglycerides	rs16826069	G	0.0237	30275531
Triglycerides	rs7979398	T	0.0149	30275531
Triglycerides	rs116843064	G	0.2647	30275531
Triglycerides	rs11613352	C	0.0247	30275531
Triglycerides	rs2000615	T	0.0572	30275531
Triglycerides	rs9884830	T	0.019	30275531
Triglycerides	rs4938307	G	0.0732	30275531
Triglycerides	rs13396091	A	0.0138	30275531
Triglycerides	rs4311394	G	0.0203	30275531
Triglycerides	rs16844401	A	0.0324	30275531
Triglycerides	rs79593977	A	0.269	30275531
Triglycerides	rs3812316	C	0.0872	30275531
Triglycerides	rs676210	G	0.0765	30275531
Triglycerides	rs10489615	A	0.0392	30275531
Triglycerides	rs7203984	C	0.022	30275531
Triglycerides	rs157582	T	0.0421	30275531
Triglycerides	rs881858	A	0.0204	30275531
Triglycerides	rs10513687	T	0.0215	30275531
Triglycerides	rs268	G	0.2325	30275531
Triglycerides	rs117877390	C	0.1029	30275531
Triglycerides	rs1178979	T	0.0439	30275531
Triglycerides	rs17600346	C	0.0464	30275531
Triglycerides	rs13256965	A	0.017	30275531
Triglycerides	rs2070971	T	0.0234	30275531
Triglycerides	rs439401	C	0.0798	30275531
Triglycerides	rs11075253	C	0.0269	30275531
Triglycerides	rs8075803	C	0.019	30275531
Triglycerides	rs2686187	G	0.0142	30275531
Triglycerides	rs326214	A	0.0222	30275531
Triglycerides	rs180357	C	0.0493	30275531
Triglycerides	rs1800775	C	0.0229	30275531
Triglycerides	rs888246	T	0.0711	30275531
Triglycerides	rs9388768	A	0.0128	30275531
Triglycerides	rs12208357	T	0.0298	30275531
Triglycerides	rs7923609	A	0.0296	30275531
Triglycerides	rs9822326	A	0.0159	30275531
Triglycerides	rs10029254	T	0.021	30275531
Triglycerides	rs1077514	T	0.0206	30275531
Triglycerides	rs2125345	T	0.0132	30275531
Triglycerides	rs3208747	G	0.15	30275531
Triglycerides	rs326	A	0.0779	30275531
Triglycerides	rs3927680	T	0.016	30275531
Triglycerides	rs2074108	C	0.0147	30275531
Triglycerides	rs2273967	C	0.0175	30275531
Triglycerides	rs4014195	G	0.0147	30275531
Triglycerides	rs41274050	T	0.0939	30275531
Triglycerides	rs9940315	G	0.0188	30275531
Triglycerides	rs10152471	G	0.0158	30275531
Triglycerides	rs17184382	A	0.0174	30275531
Triglycerides	rs2075292	G	0.0627	30275531
Triglycerides	rs12913346	A	0.0238	30275531
Triglycerides	rs2395655	A	0.0165	30275531
Triglycerides	rs3827066	C	0.0428	30275531
Triglycerides	rs1563631	C	0.0171	30275531
Triglycerides	rs4871624	G	0.0203	30275531
Triglycerides	rs2081687	T	0.0191	30275531
Triglycerides	rs2298058	T	0.0243	30275531
Triglycerides	rs13389219	C	0.0352	30275531
Triglycerides	rs1801701	C	0.0302	30275531
Triglycerides	rs26008	T	0.0241	30275531
Triglycerides	rs200559406	A	0.2821	30275531
Triglycerides	rs6458349	A	0.0383	30275531
Triglycerides	rs264	G	0.028	30275531
Triglycerides	rs3748034	T	0.028	30275531
Triglycerides	rs2665357	C	0.0184	30275531
Triglycerides	rs4722551	T	0.0192	30275531
Triglycerides	rs17120029	T	0.1421	30275531
Triglycerides	rs7259004	C	0.0637	30275531
Triglycerides	rs1800978	C	0.027	30275531
Triglycerides	rs41278045	G	0.1991	30275531
Triglycerides	rs17134592	C	0.0206	30275531
Triglycerides	rs4738141	G	0.0169	30275531
Triglycerides	rs11776767	C	0.0236	30275531
Triglycerides	rs143076454	A	0.0481	30275531
Triglycerides	rs13326165	G	0.0169	30275531
Triglycerides	rs11248060	T	0.0224	30275531
Triglycerides	rs382534	T	0.0152	30275531
Triglycerides	rs2745353	T	0.0185	30275531
Triglycerides	rs1650527	T	0.0251	30275531
Triglycerides	rs11689803	T	0.0214	30275531
Triglycerides	rs6599389	A	0.0221	30275531
Triglycerides	rs10105418	A	0.0818	30275531
Triglycerides	rs1799816	C	0.0681	30275531
Triglycerides	rs6029143	C	0.0351	30275531
Triglycerides	rs301	T	0.0619	30275531
Triglycerides	rs35169799	T	0.0415	30275531
Triglycerides	rs2306590	G	0.0131	30275531
Triglycerides	rs4704820	T	0.0217	30275531
Triglycerides	rs9686661	T	0.0439	30275531
Triglycerides	rs10235225	A	0.0148	30275531
Triglycerides	rs2442719	C	0.0242	30275531
Triglycerides	rs4120895	C	0.0178	30275531
Triglycerides	rs1473886	G	0.0171	30275531
Triglycerides	rs11891554	G	0.0956	30275531
Triglycerides	rs17819328	G	0.0252	30275531
Triglycerides	rs2229738	T	0.0243	30275531
Triglycerides	rs9804646	C	0.0598	30275531
Triglycerides	rs10886863	C	0.0582	30275531
Triglycerides	rs1801177	A	0.0947	30275531
Triglycerides	rs10401969	T	0.0946	30275531
Triglycerides	rs1344642	G	0.0131	30275531
Triglycerides	rs11195943	C	0.0229	30275531
Triglycerides	rs2821231	T	0.0159	30275531
Triglycerides	rs13107325	T	0.0327	30275531
Triglycerides	rs11216157	A	0.0549	30275531
Triglycerides	rs4715316	C	0.0155	30275531
Triglycerides	rs6982502	C	0.0278	30275531
Triglycerides	rs9939609	A	0.019	30275531
Triglycerides	rs11752643	T	0.0663	30275531
Triglycerides	rs645718	C	0.0337	30275531
Triglycerides	rs78444298	G	0.0522	30275531
Triglycerides	rs3736147	A	0.0179	30275531
Triglycerides	rs13133548	A	0.0118	30275531
Triglycerides	rs145702982	A	0.1193	30275531
Triglycerides	rs4803760	T	0.0208	30275531
Triglycerides	rs2448428	T	0.0151	30275531
Triglycerides	rs1132990	G	0.0182	30275531
Triglycerides	rs2018519	C	0.0209	30275531
Triglycerides	rs2613503	A	0.0202	30275531
Triglycerides	rs2723062	G	0.023	30275531
Triglycerides	rs12443634	A	0.0184	30275531
Triglycerides	rs1534696	C	0.0191	30275531
Triglycerides	rs16849863	T	0.0561	30275531
Triglycerides	rs1049817	A	0.0459	30275531
Triglycerides	rs7248104	G	0.0191	30275531
Triglycerides	rs4149056	C	0.032	30275531
Triglycerides	rs6016381	T	0.0179	30275531
Triglycerides	rs12699758	A	0.0159	30275531
Triglycerides	rs6435161	T	0.0145	30275531
Triglycerides	rs12545984	T	0.0435	30275531
Triglycerides	rs2287922	A	0.0177	30275531
Triglycerides	rs814295	A	0.0772	30275531
Triglycerides	rs8182584	T	0.0166	30275531
Triglycerides	rs4683438	G	0.0172	30275531
Triglycerides	rs738409	C	0.0166	30275531
Triglycerides	rs780090	T	0.0477	30275531
Triglycerides	rs738322	A	0.021	30275531
Triglycerides	rs459193	G	0.0354	30275531
Triglycerides	rs11604424	C	0.0662	30275531
Triglycerides	rs2068888	G	0.0368	30275531
Triglycerides	rs1495741	G	0.0364	30275531
Triglycerides	rs17207867	T	0.0266	30275531
Triglycerides	rs5757161	A	0.016	30275531
Triglycerides	rs546383	G	0.0133	30275531
Triglycerides	rs11634257	A	0.0175	30275531
Triglycerides	rs12043350	T	0.0153	30275531
Type 2 Diabetes	rs635634	T	0.077	28566273
Type 2 Diabetes	rs4774420	C	0.077	28566273
Type 2 Diabetes	rs2237897	C	0.2231	28566273
Type 2 Diabetes	rs11616380	G	0.0862	28566273
Type 2 Diabetes	rs2292626	C	0.0677	28566273
Type 2 Diabetes	rs4238013	C	0.0953	28566273
Type 2 Diabetes	rs233449	G	0.0862	28566273
Type 2 Diabetes	rs11187140	G	0.131	28566273
Type 2 Diabetes	rs10238625	A	0.0677	28566273
Type 2 Diabetes	rs952471	G	0.077	28566273
Type 2 Diabetes	rs11708067	A	0.1133	28566273
Type 2 Diabetes	rs4402960	T	0.1398	28566273
Type 2 Diabetes	rs7903146	T	0.2927	28566273
Type 2 Diabetes	rs6757251	C	0.131	28566273
Type 2 Diabetes	rs56348580	G	0.077	28566273
Type 2 Diabetes	rs11712037	C	0.131	28566273
Type 2 Diabetes	rs1182436	C	0.077	28566273
Type 2 Diabetes	rs60780116	T	0.0862	28566273
Type 2 Diabetes	rs1635852	T	0.0953	28566273
Type 2 Diabetes	rs757209	G	0.0862	28566273
Type 2 Diabetes	rs2023681	G	0.1222	28566273
Type 2 Diabetes	rs78761021	G	0.0583	28566273
Type 2 Diabetes	rs429358	T	0.1222	28566273
Type 2 Diabetes	rs1558902	A	0.1222	28566273
Type 2 Diabetes	rs231360	T	0.077	28566273
Type 2 Diabetes	rs9410573	T	0.077	28566273
Type 2 Diabetes	rs3802177	G	0.1133	28566273
Type 2 Diabetes	rs11759026	G	0.0953	28566273
Type 2 Diabetes	rs7428936	T	0.0677	28566273
Type 2 Diabetes	rs2972156	G	0.077	28566273
Type 2 Diabetes	rs10146997	G	0.0677	28566273
Type 2 Diabetes	rs1061810	A	0.0677	28566273
Type 2 Diabetes	rs756852	G	0.0862	28566273
Type 2 Diabetes	rs35352848	T	0.0862	28566273
Type 2 Diabetes	rs10193447	T	0.0677	28566273
Type 2 Diabetes	rs10965248	T	0.1398	28566273
Type 2 Diabetes	rs2925979	T	0.0677	28566273
Type 2 Diabetes	rs810517	C	0.0862	28566273
Type 2 Diabetes	rs340874	C	0.0677	28566273
Type 2 Diabetes	rs3821943	T	0.0953	28566273
Type 2 Diabetes	rs9687833	A	0.0953	28566273
Type 2 Diabetes	rs5219	T	0.0677	28566273
Type 2 Diabetes	rs8056814	G	0.1484	28566273
Type 2 Diabetes	rs7451008	C	0.174	28566273
Type 2 Diabetes	rs7224685	T	0.0677	28566273
Type 2 Diabetes	rs76550717	A	0.0953	28566273
Type 2 Diabetes	rs10965223	A	0.077	28566273
Uterine Fibroids	rs16991615	A	0.1484	30194396
Uterine Fibroids	rs1801516	G	0.0943	30194396
Uterine Fibroids	rs765333492	C	1.0152	30194396
Uterine Fibroids	rs2202282	T	0.0862	30194396
Uterine Fibroids	rs7986407	G	0.0677	30194396
Uterine Fibroids	rs73639400	C	0.1133	30194396
Uterine Fibroids	rs10917151	A	0.1133	30194396
Uterine Fibroids	rs1800057	G	0.2469	30194396
Uterine Fibroids	rs11031731	A	0.131	30194396
Uterine Fibroids	rs7907606	G	0.0953	30194396
Uterine Fibroids	rs7030354	T	0.1044	30194396
Uterine Fibroids	rs10929757	C	0.077	30194396
Uterine Fibroids	rs117245733	A	0.2624	30194396
Uterine Fibroids	rs12484951	G	0.1044	30194396
Uterine Fibroids	rs58415480	G	0.1655	30194396
Uterine Fibroids	rs78378222	G	0.5539	30194396
Uterine Fibroids	rs148143917	A	0.3011	30194396
Uterine Fibroids	rs11246001	C	0.1985	30194396
Uterine Fibroids	rs10069690	T	0.1133	30194396
Uterine Fibroids	rs507139	G	0.1863	30194396
Uterine Fibroids	rs479404	C	0.0862	30194396
Venous Thromboembolism	rs6087685	C	0.1398	28373160
Venous Thromboembolism	rs1799963	A	0.8286	28373160
Venous Thromboembolism	rs4602861	A	0.1044	28373160
Venous Thromboembolism	rs3136516	G	0.0953	28373160
Venous Thromboembolism	rs977371848	T	0.5188	28373160
Venous Thromboembolism	rs2289252	T	0.3001	28373160
Venous Thromboembolism	rs78707713	T	0.2469	28373160
Venous Thromboembolism	rs6025	T	1.1787	28373160
Venous Thromboembolism	rs2066865	A	0.2151	28373160
Venous Thromboembolism	rs2288904	G	0.174	28373160

Understanding Polygenic Risk · NHGRI ↗ · How Scoring Files Are Defined · PGS Catalog ↗

04 / NUTRITION & WELLNESS

Useful Questions.
Informed by Measured Health.

These traits describe genetic associations with aspects of nutrition, food response, or physical characteristics. They can inform questions to explore, but do not independently diagnose a nutrient deficiency, identify an ideal diet, or prescribe an exercise program.

At OmniWell, relevant findings are considered alongside dietary history, symptoms, laboratory results, body composition, and physical performance. A genetic association becomes more useful when it helps explain an observed pattern or supports an appropriate next assessment. The GLP1R association is research context, not a guideline for choosing or dosing a GLP-1 medication.

Nutrition & Wellness Associations37 entries
Reported Trait / Association	Gene	Variant	PubMed ID
Achilles Tendinopathy	GDF5	rs143383	21642387
Alcohol Flush Reaction	ALDH2	rs671	6582480
Bitter Taste Perception	TAS2R38	rs713598	20675712
Caffeine Metabolism	CYP1A2	rs762551	17370067
COVID-19 Severity	ABO	rs657152	34737427 · 32558485 · 33307546
COVID-19 Severity	LZTFL1	rs17713054	34737427 · 32558485 · 33307546
COVID-19 Severity	SLC6A20	rs11385942	34737427 · 32558485 · 33307546
Endurance Training	ACE	rs4343	24240283
Endurance Training	ACTN3	rs1815739	10192379
Enhanced HDL Cholesterol Response to Exercise	PPARD	rs2016520	30157214
Histamine Intolerance	HNMT	rs1050891	30744146 · 21040557
Longevity Association	FOXO3	rs12206094	29234056
Longevity Association	FOXO3	rs4946935	29234056
Insulin Sensitivity	LIPC	rs1800588	15983229
Lactose intolerance	MCM6	rs4988235	11788828 · 19937006 · 16301215 · 22826639
Muscle Performance	ACTN3	rs1815739	10192379
Obesity	MC4R	rs17782313	31954858 · 35538513 · 35540528
OMEGA-6 and OMEGA-3 Levels	FADS1	rs174547	33331250 · 31991592 · 34201625 · 27527582 · 29068398
Lower Cardiovascular Risk Association	B4GALT1	rs551564683	34855475
Lower Obesity Risk Association	GPR75	rs148952285	34210852
Lower Obesity Risk Association	GPR75	c.329_335delCCAGTAG	34210852
Response to GLP-1 receptor agonist treatment	GLP1R	rs6923761	40692597 · 21616920
Response to GLP-1 receptor agonist treatment	GLP1R	rs10305420	41951734
Risk Seeking Behavior	DRD4	rs1800955	10673770
SERPINE1 4G/5G Polymorphism-Associated Clotting Risk	SERPINE1	rs1799762	31920171 · 25450536 · 26245493
Smoking Behavior	CHRNA3	rs1051730	20418890
Smoking Cessation	ANKK1	rs1800497	26624925
Susceptibility to Non-Alcoholic Fatty Liver Disease	PNPLA3	rs738409	18820647 · 19651814 · 31419571
Sweet taste	TAS1R2	rs12033832	21743773
Sweet taste	TAS1R3	rs307355	21743773
Vitamin A	BCMO1	rs7501331	19103647
Vitamin A	BCMO1	rs12934922	19103647
Vitamin B12	FUT2	rs601338	29040465 · 18776911 · 19744961
Vitamin B6	NBPF3	rs4654748	19303062
Vitamin C	SLC23A1	rs33972313	20519558 · 30442817
Vitamin D	GC	rs1155563	19255064
Vitamin D	GC	rs2282679	19255064

Biological age is a different assessment. WGS examines DNA sequence. Epigenetic tests examine chemical marks, including DNA methylation, and some use those patterns to estimate aspects of biological aging. A sequencing result is not a methylation-age or pace-of-aging measurement. Explore Epigenetic Age Testing →

05 / OMNIWELL CLINICAL PERSPECTIVE

Connect the Finding
to the Person.

A useful genomic assessment connects a finding to a clinical question. Does it fit your history, family patterns, medications, and measured health? Would a different screening plan, confirmatory test, or specialist opinion help? We use those questions to turn selected findings into a thoughtful conversation about care.

Assess the Evidence

A gene–condition association and a clinically actionable result are different things. We consider the variant classification, inheritance, strength of evidence, and relevance to your situation.

Build the Clinical Picture

Your genome is considered alongside your examination, family history, laboratory measurements, imaging, and other assessments. The result adds context to a broader evaluation.

Choose the Next Step

A finding may lead to a screening discussion, medication review, confirmatory testing, or genetic counseling. Some findings add background context without changing your current care.

Revisit When Appropriate

Evidence and report scope can change. Reanalysis of existing data differs from repeating sequencing. Its availability, suitability, and any additional cost are confirmed before it is arranged.

Understand What the Test Can and Cannot Answer

A health-risk screen does not replace disease-specific diagnostic testing when symptoms or family history warrant it.
A negative report cannot rule out every inherited risk. Some regions, variant types, and conditions require other methods.
Before testing, discuss possible family implications and the laboratory’s consent, sample-storage, data-use, and research choices.
Results should be reviewed with the appropriate clinician before changing medications, supplements, or screening.

What to Expect From the WGS Assessment →

06 / SCIENTIFIC CONTEXT

Explore the Evidence.

The resources below explain interpretation principles and relevant clinical guidance. Research links within the tables point to individual publications. Neither a citation nor a catalog entry establishes that every association is clinically actionable. Educational content and technical scope should be considered alongside the report actually ordered.

PART OF YOUR PERSONAL HEALTH PICTURE

More Context.
More Informed Decisions.

See how genomics fits alongside physician-led medicine, laboratory testing, imaging, physical performance, and nutrition.

Back to Whole-Genome Sequencing Explore All Assessments

Genes, Conditions
& Medication Response.

Search Results

A Gene Is a Starting Point.
The Variant and Context Matter.

Genetic Context for
a Prescribing Decision.

Medication Associations

Alleles, Variants & Functional Effects

Many Variants.
One Model-Specific Estimate.

Inside the Model

Useful Questions.
Informed by Measured Health.

Connect the Finding
to the Person.

Assess the Evidence

Build the Clinical Picture

Choose the Next Step

Revisit When Appropriate

Understand What the Test Can and Cannot Answer

Explore the Evidence.

More Context.
More Informed Decisions.

Join the Waitlist.

What happens next?

Genes, Conditions & Medication Response.

Search Results

A Gene Is a Starting Point. The Variant and Context Matter.

Genetic Context for a Prescribing Decision.

Medication Associations

Alleles, Variants & Functional Effects

Many Variants. One Model-Specific Estimate.

Inside the Model

Useful Questions. Informed by Measured Health.

Connect the Finding to the Person.

Assess the Evidence

Build the Clinical Picture

Choose the Next Step

Revisit When Appropriate

Understand What the Test Can and Cannot Answer

Explore the Evidence.

More Context. More Informed Decisions.

Genes, Conditions
& Medication Response.

A Gene Is a Starting Point.
The Variant and Context Matter.

Genetic Context for
a Prescribing Decision.

Many Variants.
One Model-Specific Estimate.

Useful Questions.
Informed by Measured Health.

Connect the Finding
to the Person.

More Context.
More Informed Decisions.