SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS145387989 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS1453883641 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1453886049 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS145388804 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS145389125 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder
RS145389285 KATNB1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lissencephaly 6 with microcephaly
RS1453893690 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1453894904 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1453899480 ABCA4 Health Risk Pathogenic —
RS1453901558 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1453901762 GATA4 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 4, Atrioventricular septal defect 4
RS145390254 NDST1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS145390629 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1453915867 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS1453919511 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1453920894 PGM1 Health Risk Pathogenic/Likely pathogenic PGM1-congenital disorder of glycosylation, Congenital disorder of glycosylation
RS145392420 TNFAIP3 Health Risk Conflicting classifications of pathogenicity —
RS145392789 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS1453933519 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1453934366 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS1453934715 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS145393807 BAG3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 6
RS145393882 PHEX Health Risk Conflicting classifications of pathogenicity Familial X-linked hypophosphatemic vitamin D refractory rickets, Familial X-linked hypophosphatemic vitamin D refractory rickets
RS145394391 FANCC Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS145394914 KCNV2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1453953571 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS145396188 MKKS Health Risk Conflicting classifications of pathogenicity McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS1453967813 PNPLA6;MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Hereditary spastic paraplegia 39
RS1453968760 TANGO2 Health Risk Pathogenic —
RS145397619 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1453977337 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS1453982069 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS1453983744 PKP2 Health Risk Pathogenic Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 9
RS145398548 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS1453987164 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS145398861 LIPC Health Risk Conflicting classifications of pathogenicity Hyperlipidemia due to hepatic triglyceride lipase deficiency, Hyperlipidemia due to hepatic triglyceride lipase deficiency
RS1453992981 COL4A3 Health Risk Pathogenic —
RS145400360 DRC1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS145400611 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1454006905 POMK Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS145400780 IQCB1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, IQCB1-related disorder
RS1454008881 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS145401010 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS145401144 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS145401372 MPZL2 Health Risk Likely pathogenic Hearing loss, autosomal recessive 111
RS145401873 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS145402041 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Dilated cardiomyopathy 1C
RS145402131 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1454033665 POU3F4 Health Risk Pathogenic X-linked mixed hearing loss with perilymphatic gusher, X-linked mixed hearing loss with perilymphatic gusher
RS145403829 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS145404046 COL5A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Ehlers-Danlos syndrome
RS145404396 PHYH Health Risk Conflicting classifications of pathogenicity Nonsyndromic cleft lip palate, Phytanic acid storage disease
RS145404739 NUP85 Health Risk Conflicting classifications of pathogenicity —
RS1454054574 CYB5R3 Health Risk Likely pathogenic Deficiency of cytochrome-b5 reductase, Deficiency of cytochrome-b5 reductase
RS1454055874 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1454068577 CTNNB1 Health Risk Pathogenic Severe intellectual disability-progressive spastic diplegia syndrome, Severe intellectual disability-progressive spastic diplegia syndrome
RS145407020 NDUFS6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS145407228 TRPC5 Health Risk Conflicting classifications of pathogenicity TRPC5-related disorder, TRPC5-related disorder
RS145408029 DYM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DYM-related disorder
RS1454083299 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1454088856 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS145410000 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS145411537 LRBA Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS145411666 SLC25A12 Health Risk Pathogenic —
RS145412418 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS1454126964 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS145412880 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder
RS1454140894 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1454141074 IHH Health Risk Likely pathogenic Acrocapitofemoral dysplasia, Acrocapitofemoral dysplasia
RS145414319 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, See cases
RS145415033 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS145415848 CIB2 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1J, Usher syndrome type 1
RS1454163044 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS1454175058 CLN8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1454183075 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia
RS145419117 DOK7 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS145419141 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS145420388 LAMA2 Health Risk Pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS145420448 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS1454219963 MEGF10 Health Risk Likely pathogenic —
RS1454220856 IBA57 Health Risk Pathogenic Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS145422395 HADHA Health Risk Conflicting classifications of pathogenicity Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1454231642 PRF1 Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 2, Aplastic anemia
RS1454234098 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS145424390 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS145424773 DLX3 Health Risk Conflicting classifications of pathogenicity Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
RS145425340 EVC2 Health Risk Pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS145425478 DTNA Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Left ventricular noncompaction 1
RS145425662 ADGRE2 Health Risk Conflicting classifications of pathogenicity —
RS145425679 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS145427063 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS145427253 SCN5A Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial
RS145427664 HMOX1 Health Risk Conflicting classifications of pathogenicity HMOX1-related disorder, HMOX1-related disorder
RS145427732 DHTKD1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Q, 2-aminoadipic 2-oxoadipic aciduria
RS145427892 EIF2AK3 Health Risk Conflicting classifications of pathogenicity Wolcott-Rallison dysplasia, Connective tissue disorder
RS145428184 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS145428904 GHR Health Risk Conflicting classifications of pathogenicity —
RS1454289985 CLTC Health Risk Pathogenic —
RS1454292836 LAMC3 Health Risk Pathogenic —
RS1454293516 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
« Prev 1 ... 624 625 626 627 628 629 630 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →