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
RS2135552505 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135552978 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135553051 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135553733 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135553794 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2135553856 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135554073 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135554107 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135554539 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135554957 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135555116 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135555296 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135556648 ARCN1 Health Risk Pathogenic Short stature, rhizomelic
RS2135556662 ARCN1 Health Risk Pathogenic/Likely pathogenic ARCN1-related disorder, ARCN1-related disorder
RS2135558909 SPTBN2 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
RS2135562294 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS2135563245 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS2135564916 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135564943 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135565205 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135565314 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135565843 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135566568 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135566959 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135570105 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135570125 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135570486 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135570632 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135571055 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135571395 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135571457 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135571727 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135572911 RELA Health Risk Pathogenic —
RS2135573427 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2135574922 MYO7A Health Risk Likely pathogenic —
RS2135575577 MYO7A Health Risk Likely pathogenic —
RS2135575726 MYO7A Health Risk Pathogenic —
RS2135576239 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS2135577456 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome
RS2135578887 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2135581709 C2CD3 Health Risk Pathogenic —
RS2135587402 FANCC Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2135588524 FANCC Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS2135591632 COL27A1 Health Risk Pathogenic —
RS2135594065 COL27A1 Health Risk Likely pathogenic —
RS2135594366 COL27A1 Health Risk Pathogenic Steel syndrome, Steel syndrome
RS2135595547 PTPRO Health Risk Likely pathogenic —
RS2135597189 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2135597558 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS2135597588 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS2135597894 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2135597925 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS2135598685 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2135598717 SUFU Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS2135598858 SUFU Health Risk Likely pathogenic —
RS2135598885 SUFU Health Risk Likely pathogenic Gorlin syndrome, Medulloblastoma
RS2135619894 SUFU Health Risk Likely pathogenic Gorlin syndrome, Medulloblastoma
RS2135620210 SUFU Health Risk Pathogenic Gorlin syndrome, Medulloblastoma
RS2135620366 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS2135620410 MYO7A Health Risk Pathogenic —
RS2135620605 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS2135621012 SUFU Health Risk Likely pathogenic Medulloblastoma, Gorlin syndrome
RS2135622964 COL27A1 Health Risk Pathogenic —
RS2135625521 ANO1 Health Risk Likely pathogenic ANO1-related fatal neonatal disease due to impaired chloride currents, ANO1-related fatal neonatal disease due to impaired chloride currents
RS2135627311 MYO7A Health Risk Pathogenic —
RS2135627450 MYO7A Health Risk Likely pathogenic Ear malformation, Ear malformation
RS2135633751 COL27A1 Health Risk Likely pathogenic —
RS2135642194 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135642944 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135644009 ATM Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2135644510 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135645607 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135657252 MYO7A Health Risk Likely pathogenic —
RS2135658805 MYO7A Health Risk Pathogenic —
RS2135659017 MYO7A Health Risk Pathogenic —
RS2135665193 SHANK2 Health Risk Likely pathogenic See cases, See cases
RS2135665946 COL27A1 Health Risk Likely pathogenic —
RS2135666319 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135666442 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135666480 COL27A1 Health Risk Pathogenic —
RS2135666539 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135666711 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135666960 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135667225 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135669053 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135669236 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135669298 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2135669847 MYO7A Health Risk Likely pathogenic —
RS2135670160 MYO7A Health Risk Pathogenic —
RS2135670424 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135678282 MPDZ Health Risk Pathogenic/Likely pathogenic Hydrocephalus, nonsyndromic
RS2135680215 MYO7A Health Risk Pathogenic —
RS2135681132 MYO7A Health Risk Pathogenic —
RS2135682219 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2135686751 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135687676 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135687866 SMARCC2 Health Risk Pathogenic SMARCC2-related BAFopathy, SMARCC2-related BAFopathy
RS2135688037 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135688046 CEP164 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 15, Nephronophthisis 15
RS2135688794 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
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