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
RS2149110899 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS2149111820 ATP7A Health Risk Likely pathogenic —
RS2149112121 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149112273 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS2149112301 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes disease, mild
RS2149112377 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149112658 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149113303 PROM1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 41, Retinitis pigmentosa 41
RS2149113333 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149113459 CFH Health Risk Pathogenic/Likely pathogenic Factor H deficiency, Age related macular degeneration 4
RS2149113551 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS2149114379 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149117350 DEPDC5 Health Risk Pathogenic —
RS2149117486 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149117986 CFH Health Risk Likely pathogenic Factor H deficiency, Factor H deficiency
RS2149118044 CFH Health Risk Likely pathogenic —
RS2149118240 DEPDC5 Health Risk Likely pathogenic Seizure, Seizure
RS2149118700 CFH Health Risk Pathogenic/Likely pathogenic Factor H deficiency, Atypical hemolytic-uremic syndrome
RS2149118712 CFH Health Risk Conflicting classifications of pathogenicity Hemolytic uremic syndrome, atypical
RS2149118730 CFH Health Risk Likely pathogenic —
RS2149119265 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149120039 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149120608 MUTYH Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2149120668 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149123423 NFKB1 Health Risk Pathogenic Immunodeficiency, common variable
RS2149125350 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia
RS2149125943 TRPC3 Health Risk Pathogenic Spinocerebellar ataxia type 41, Spinocerebellar ataxia type 41
RS2149126191 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149127392 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149127726 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149127930 NFKB1 Health Risk Pathogenic —
RS2149127976 NFKB1 Health Risk Likely pathogenic —
RS2149128829 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149128878 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149129071 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149129901 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149130255 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149132078 PGK1 Health Risk Likely pathogenic Glycogen storage disease due to phosphoglycerate kinase 1 deficiency, Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
RS2149133294 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149134563 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149135116 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149135348 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149136105 ASXL2 Health Risk Likely pathogenic Shashi-Pena syndrome, Shashi-Pena syndrome
RS2149136134 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149136473 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149136521 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Melanoma
RS2149136994 PGK1 Health Risk Likely pathogenic —
RS2149137048 PGK1 Health Risk Likely pathogenic —
RS2149137069 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149137188 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149137273 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149137337 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149137694 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149138024 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2149138125 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149138245 DMD Health Risk Pathogenic —
RS2149138656 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149139061 DMD Health Risk Pathogenic Becker muscular dystrophy, Cardiomyopathy
RS2149139493 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS2149139668 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS2149139706 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS2149139793 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS2149139817 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS2149139969 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS2149140056 HAX1 Health Risk Pathogenic Kostmann syndrome, Kostmann syndrome
RS2149140065 HAX1 Health Risk Likely pathogenic Kostmann syndrome, Kostmann syndrome
RS2149140090 TRAK1 Health Risk Pathogenic Uterine corpus endometrial carcinoma, Uterine corpus endometrial carcinoma
RS2149140495 HAX1 Health Risk Pathogenic Kostmann syndrome, Hepatocellular carcinoma
RS2149140690 HAX1 Health Risk Likely pathogenic Kostmann syndrome, Kostmann syndrome
RS2149140738 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149142613 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149142768 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149143211 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149143657 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149146140 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149149399 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149150540 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2149151527 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149151820 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149152823 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149153407 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149155486 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149156374 CAMTA1 Health Risk Pathogenic —
RS2149158164 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2149158986 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149160869 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149161607 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149161840 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149163148 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2149164388 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149164413 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149164661 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149164805 MUTYH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149165354 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149165704 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149166157 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149168276 NFKB1 Health Risk Pathogenic —
RS2149168346 NFKB1 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS2149169604 PROM1 Health Risk Pathogenic —
RS2149172097 MUTYH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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