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
RS2465070140 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465070224 USH2A Health Risk Pathogenic —
RS2465070247 USH2A Health Risk Pathogenic —
RS2465070264 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465087380 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087382 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, SOX11-related disorder
RS2465087384 SOX11 Health Risk Pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087392 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087396 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087399 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087401 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087402 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087408 SOX11 Health Risk Pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087446 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087455 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087457 SOX11 Health Risk Pathogenic Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS2465087460 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087461 SOX11 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2465087515 SOX11 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087521 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087527 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465087534 SOX11 Health Risk Likely pathogenic Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS2465087545 SOX11 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2465087778 SOX11 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS2465088378 SOX11 Health Risk Likely pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465088616 SOX11 Health Risk Pathogenic Hypogonadotropic hypogonadism, Hypogonadotropic hypogonadism
RS2465088788 SOX11 Health Risk Conflicting classifications of pathogenicity SOX11-related disorder, SOX11-related disorder
RS2465088961 SOX11 Health Risk Pathogenic Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism
RS2465089218 USH2A Health Risk Pathogenic —
RS2465089267 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2465089350 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465090776 USH2A Health Risk Pathogenic —
RS2465090947 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465090971 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2465097947 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465098088 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2465272346 OTOF Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS2465272460 OTOF Health Risk Likely pathogenic Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder
RS2465272620 OTOF Health Risk Likely pathogenic Auditory neuropathy spectrum disorder, Auditory neuropathy spectrum disorder
RS2465272871 OTOF Health Risk Pathogenic —
RS2465272880 OTOF Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS2465272964 OTOF Health Risk Pathogenic —
RS2465273048 PCARE Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2465273458 PCARE Health Risk Pathogenic —
RS2465274081 PCARE Health Risk Pathogenic Cone-rod dystrophy 23, Cone-rod dystrophy 23
RS2465275931 PCARE Health Risk Pathogenic Retinitis pigmentosa 54, Retinal dystrophy
RS2465276054 PCARE Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2465276092 PCARE Health Risk Pathogenic —
RS2465277568 PCARE Health Risk Pathogenic —
RS2465278801 PCARE Health Risk Likely pathogenic Retinitis pigmentosa 54, Retinitis pigmentosa 54
RS2465279042 PCARE Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2465279561 PCARE Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2465279577 PCARE Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2465280012 PCARE Health Risk Pathogenic —
RS2465280349 PCARE Health Risk Pathogenic —
RS2465280775 OTOF Health Risk Pathogenic —
RS2465280778 OTOF Health Risk Pathogenic —
RS2465282305 SELENOI Health Risk Pathogenic Spastic paraplegia 81, autosomal recessive
RS2465288675 CAD Health Risk Likely pathogenic —
RS2465289594 OTOF Health Risk Pathogenic —
RS2465289706 OTOF Health Risk Pathogenic —
RS2465291241 OTOF Health Risk Likely pathogenic —
RS2465291425 OTOF Health Risk Likely pathogenic —
RS2465293335 CAD Health Risk Pathogenic Developmental and epileptic encephalopathy, 50
RS2465296645 CAD Health Risk Pathogenic —
RS2465297906 XDH Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS2465297923 CAD Health Risk Pathogenic —
RS2465299251 CAD Health Risk Pathogenic —
RS2465299350 CAD Health Risk Pathogenic —
RS2465299809 CAD Health Risk Pathogenic —
RS2465303427 CAD Health Risk Pathogenic —
RS2465304804 ASXL2 Health Risk Likely pathogenic —
RS2465305003 CAD Health Risk Likely pathogenic —
RS2465305010 CAD Health Risk Likely pathogenic —
RS2465305772 ASXL2 Health Risk Likely pathogenic Shashi-Pena syndrome, Shashi-Pena syndrome
RS2465306442 CAD Health Risk Likely pathogenic Pancreatic adenocarcinoma, Pancreatic adenocarcinoma
RS2465306996 CAD Health Risk Pathogenic —
RS2465307163 CAD Health Risk Pathogenic —
RS2465314655 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS2465315449 ASXL2 Health Risk Likely pathogenic Shashi-Pena syndrome, Shashi-Pena syndrome
RS2465315580 ASXL2 Health Risk Likely pathogenic Shashi-Pena syndrome, Shashi-Pena syndrome
RS2465317683 OTOF Health Risk Likely pathogenic —
RS2465317833 OTOF Health Risk Pathogenic —
RS2465322898 CAD Health Risk Likely pathogenic Infantile epileptic dyskinetic encephalopathy, Infantile epileptic dyskinetic encephalopathy
RS2465322986 CAD Health Risk Likely pathogenic —
RS2465324094 KCNK3 Health Risk Pathogenic Pulmonary hypertension, primary
RS2465324851 CAD Health Risk Pathogenic —
RS2465324954 CAD Health Risk Pathogenic —
RS2465325640 CAD Health Risk Pathogenic —
RS2465328759 CAD Health Risk Pathogenic —
RS2465329536 FOSL2 Health Risk Pathogenic Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome
RS2465329579 FOSL2 Health Risk Pathogenic Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome
RS2465329612 FOSL2 Health Risk Pathogenic Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome
RS2465329674 FOSL2 Health Risk Likely pathogenic Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome
RS2465329828 FOSL2 Health Risk Pathogenic Aplasia cutis-enamel dysplasia syndrome, Aplasia cutis-enamel dysplasia syndrome
RS2465337001 CAD Health Risk Pathogenic —
RS2465337853 CAD Health Risk Pathogenic —
RS2465341074 CAD Health Risk Likely pathogenic —
RS2465341445 CAD Health Risk Pathogenic —
RS2465341623 CAD Health Risk Pathogenic —
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