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
RS2135269740 SDHD Health Risk Pathogenic Carney-Stratakis syndrome, Paragangliomas with sensorineural hearing loss
RS2135270511 MYO7A Health Risk Pathogenic —
RS2135270924 MYO7A Health Risk Pathogenic —
RS2135277333 SDHD Health Risk Pathogenic/Likely pathogenic Carney-Stratakis syndrome, Pheochromocytoma
RS2135277367 SDHD Health Risk Likely pathogenic —
RS2135277706 SDHD Health Risk Likely pathogenic Pheochromocytoma/paraganglioma syndrome 1, Pheochromocytoma/paraganglioma syndrome 1
RS2135277783 SDHD Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135281738 TYR Health Risk Pathogenic —
RS2135281765 TYR Health Risk Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1A
RS2135282980 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2135283149 PCDH15 Health Risk Pathogenic —
RS2135287852 MYO7A Health Risk Pathogenic —
RS2135289838 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135290302 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135292079 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135292977 KMT2A Health Risk Likely pathogenic Wiedemann-Steiner syndrome, Wiedemann-Steiner syndrome
RS2135294835 ATM Health Risk Pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2135296157 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Gastric cancer
RS2135298547 COL27A1 Health Risk Pathogenic —
RS2135298839 COL27A1 Health Risk Likely pathogenic —
RS2135301614 CBL Health Risk Likely pathogenic CBL-related disorder, CBL-related disorder
RS2135303045 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS2135303545 CBL Health Risk Likely pathogenic RASopathy, RASopathy
RS2135303902 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS2135304804 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS2135307959 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135308147 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135308182 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135308212 SERPING1 Health Risk Pathogenic —
RS2135308228 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135308232 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135308474 SERPING1 Health Risk Pathogenic —
RS2135308522 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135308550 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS2135308651 SERPING1 Health Risk Pathogenic —
RS2135308831 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema type 1
RS2135308859 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema type 1
RS2135310334 MYO7A Health Risk Pathogenic —
RS2135311043 CBL Health Risk Likely pathogenic Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome
RS2135311220 SERPING1 Health Risk Pathogenic —
RS2135311222 SERPING1 Health Risk Likely pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS2135311313 SERPING1 Health Risk Pathogenic —
RS2135311324 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema type 1
RS2135311344 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135311395 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135311510 PAX6 Health Risk Likely pathogenic Aniridia 1, Aniridia 1
RS2135312491 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS2135316180 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135316258 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135316531 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135316980 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135317116 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135317558 SERPING1 Health Risk Likely pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135317617 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135317631 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135317696 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135317718 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135318127 SERPING1 Health Risk Likely pathogenic Hereditary angioedema type 1, Inborn genetic diseases
RS2135318252 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135318269 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135318339 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135318363 SERPING1 Health Risk Pathogenic —
RS2135318388 SERPING1 Health Risk Pathogenic —
RS2135318396 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135319137 PCDH15 Health Risk Likely pathogenic —
RS2135319250 SPTBN2 Health Risk Likely pathogenic Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS2135320462 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2135320531 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135320961 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2135321547 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2135321724 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135322143 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS2135322427 PCDH15 Health Risk Pathogenic —
RS2135322636 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135322862 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135323409 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135323462 PCDH15 Health Risk Pathogenic —
RS2135323866 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2135324283 TYR Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS2135324290 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2135324441 SERPING1 Health Risk Pathogenic —
RS2135324476 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135324522 SERPING1 Health Risk Pathogenic —
RS2135324565 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135324578 SERPING1 Health Risk Likely pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135324604 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135324708 SERPING1 Health Risk Pathogenic —
RS2135324746 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135324760 SERPING1 Health Risk Likely pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
RS2135324767 SERPING1 Health Risk Pathogenic Angioedema, Angioedema
RS2135324770 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS2135324885 SERPING1 Health Risk Pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema type 1
RS2135325176 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135325561 ATM Health Risk Pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2135326709 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135327830 SERPING1 Health Risk Pathogenic —
RS2135327898 SERPING1 Health Risk Pathogenic Hereditary angioedema type 1, Hereditary angioedema type 1
RS2135328012 SERPING1 Health Risk Pathogenic —
RS2135328049 SERPING1 Health Risk Likely pathogenic —
RS2135328051 SERPING1 Health Risk Likely pathogenic Hereditary angioedema with C1Inh deficiency, Hereditary angioedema with C1Inh deficiency
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