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
RS1555083096 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555083131 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555083198 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555083267 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555083315 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555083355 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS1555083435 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555083469 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555083482 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555084324 MYO7A Health Risk Pathogenic —
RS1555084596 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555084723 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555084832 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555084836 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555084924 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555084931 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555084947 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Malignant tumor of breast
RS1555085060 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555085143 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555085172 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555085210 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555085217 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555085549 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1555085564 FZD4 Health Risk Likely pathogenic —
RS1555085575 CDKN1B Health Risk Pathogenic Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS1555085610 MYO7A Health Risk Likely pathogenic —
RS1555085637 FZD4 Health Risk Pathogenic —
RS1555085761 KCNA1 Health Risk Likely pathogenic Episodic ataxia type 1, Episodic ataxia type 1
RS1555085786 KCNA1 Health Risk Pathogenic Episodic ataxia type 1, Episodic ataxia type 1
RS1555085798 KCNA1 Health Risk Likely pathogenic Episodic ataxia type 1, Epileptic encephalopathy
RS1555085799 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555085973 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555085978 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555086007 FZD4 Health Risk Pathogenic Familial exudative vitreoretinopathy, Familial exudative vitreoretinopathy
RS1555086041 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555086480 CLPB Health Risk Likely pathogenic —
RS1555087619 CLPB Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, 3-methylglutaconic aciduria
RS1555090075 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555090114 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555090139 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555090168 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555090171 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555090196 MYO7A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1B, Usher syndrome type 1
RS1555090294 MYO7A Health Risk Likely pathogenic Usher syndrome, Autosomal recessive nonsyndromic hearing loss 2
RS1555090368 MYO7A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Usher syndrome
RS1555090442 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555090885 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555091094 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555091114 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555091120 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555091141 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555091158 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555091196 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555091238 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555091302 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555091359 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555091367 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555091370 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555091402 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555091431 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555091636 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555092219 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555092229 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555092297 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555092317 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555092425 ATM Health Risk Pathogenic —
RS1555092430 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555092445 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555092477 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555092589 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555092593 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555092993 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555093028 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555093241 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555093256 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555093289 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555093303 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555093659 ATM Health Risk Likely pathogenic —
RS1555093665 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555093684 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555094473 MGP Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia, Short palm
RS1555094999 SHANK2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Autism
RS1555095233 DYNC2H1 Health Risk Likely pathogenic —
RS1555095807 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555095841 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555095933 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 2
RS1555095955 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555096035 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS1555096057 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555096070 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555096223 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS1555096248 BEST1 Health Risk Likely pathogenic Retinal dystrophy, Autosomal recessive bestrophinopathy
RS1555096583 FGF23 Health Risk Pathogenic/Likely pathogenic Tumoral calcinosis, hyperphosphatemic
RS1555096711 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1555096975 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555097571 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1555097604 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555097650 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1555097894 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS1555097898 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
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