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
RS2497126196 MYO7A Health Risk Conflicting classifications of pathogenicity Auditory neuropathy, Auditory neuropathy
RS2497126979 MYO7A Health Risk Pathogenic —
RS2497127005 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497127256 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2497127636 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2497128760 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497129075 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497129132 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497129278 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497129696 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2497129863 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497130402 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497130650 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497130668 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497131456 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497131612 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2497132180 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497132875 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497134000 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497134581 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497138468 USH1C Health Risk Pathogenic —
RS2497138959 CTNND1 Health Risk Likely pathogenic Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2
RS2497139451 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS2497139571 USH1C Health Risk Pathogenic —
RS2497139677 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS2497139905 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS2497140154 CTNND1 Health Risk Pathogenic Blepharocheilodontic syndrome 2, Blepharocheilodontic syndrome 2
RS2497140542 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497141018 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497141506 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497142477 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497143876 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2497144069 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497144443 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS2497144452 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2497144761 ALG8 Health Risk Likely pathogenic ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS2497144999 ALG8 Health Risk Pathogenic Autosomal dominant polycystic liver disease, Autosomal dominant polycystic liver disease
RS2497145277 ALG8 Health Risk Pathogenic ALG8 congenital disorder of glycosylation, ALG8 congenital disorder of glycosylation
RS2497145399 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497145649 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2497146242 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497146345 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497146492 ATM Health Risk Pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2497146555 ATM Health Risk Pathogenic —
RS2497147562 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497147680 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2497147888 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497148616 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497150583 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497151496 DYNC2H1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497151681 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497151770 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497151880 ATM Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2497152298 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497152398 DYNC2H1 Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 3, Asphyxiating thoracic dystrophy 3
RS2497152873 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497153111 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497153206 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497153259 WNK1 Health Risk Pathogenic Pseudohypoaldosteronism type 2C, Neuropathy
RS2497153317 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2497153382 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2497154789 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2497154893 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497154975 ATM Health Risk Likely pathogenic —
RS2497155091 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2497155366 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2497155446 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497155607 USH1C Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS2497155740 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS2497155760 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS2497155958 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS2497155994 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497156286 USH1C Health Risk Pathogenic —
RS2497156421 USH1C Health Risk Likely pathogenic Usher syndrome type 1C, Usher syndrome type 1C
RS2497156629 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS2497157870 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497158423 DYNC2H1 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS2497158517 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497159427 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2497159527 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497160047 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497161585 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2497161656 MEN1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2497161877 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS2497163167 USH1C Health Risk Pathogenic Usher syndrome, Usher syndrome
RS2497163229 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Autosomal recessive nonsyndromic hearing loss 18A
RS2497170857 USH1C Health Risk Pathogenic —
RS2497170873 USH1C Health Risk Pathogenic —
RS2497171137 USH1C Health Risk Likely pathogenic —
RS2497171629 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2497171722 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2497172291 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497174269 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS2497175190 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2497175204 MEN1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2497175277 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497175982 FOXRED1 Health Risk Pathogenic —
RS2497176019 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS2497176150 FOXRED1 Health Risk Pathogenic —
RS2497176367 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
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