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
RS179363867 IKBKG Health Risk Likely pathogenic Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
RS179363869 IKBKG Health Risk Likely pathogenic —
RS179363873 ITGB2 Health Risk Pathogenic/Likely pathogenic Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS179363875 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS179363876 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS179363877 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS179363878 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS179363879 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS179363880 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS179363882 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS179363883 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS179363884 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS179363885 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS179363886 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS179363889 AIRE Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS179363890 CYBA Health Risk Pathogenic —
RS179363892 CYBA Health Risk Likely pathogenic Granulomatous disease, chronic
RS179363894 CYBA Health Risk Pathogenic/Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS179363897 BBS5 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS179363900 MECP2 Health Risk Likely pathogenic Rett syndrome, zappella variant
RS179363901 MECP2 Health Risk Pathogenic/Likely pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS1793689014 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1793713030 ARID1B Health Risk Pathogenic —
RS1793719203 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1793751061 SMO Health Risk Likely pathogenic Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
RS1793814652 SMO Health Risk Pathogenic Congenital hypothalamic hamartoma syndrome, Congenital hypothalamic hamartoma syndrome
RS1793940326 SLC26A3 Health Risk Conflicting classifications of pathogenicity —
RS1793956441 TSPAN12 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1793956510 TSPAN12 Health Risk Likely pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS1793999476 SLC25A13 Health Risk Likely pathogenic Citrullinemia type II, Citrullinemia
RS1794000888 SLC25A13 Health Risk Pathogenic Citrullinemia, type II
RS1794001446 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrullinemia
RS1794039778 IFT56 Health Risk Likely pathogenic Caroli disease, Biliary
RS1794042527 VARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS1794042593 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome, Coffin-Siris syndrome 1
RS1794053879 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1794059063 ARID1B Health Risk Likely pathogenic —
RS1794071513 ARID1B Health Risk Pathogenic —
RS1794096639 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1794099468 ARID1B Health Risk Pathogenic —
RS1794104889 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1794108907 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1794129841 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS1794219866 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1794241080 SLC26A3 Health Risk Pathogenic —
RS1794247110 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal cell carcinoma
RS1794272939 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1794274425 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1794276185 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1794278792 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1794283740 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1794303992 SLC26A3 Health Risk Pathogenic —
RS1794304689 SLC26A3 Health Risk Pathogenic/Likely pathogenic Congenital secretory diarrhea, chloride type
RS1794308770 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1794443522 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1794454006 ARPC1B Health Risk Pathogenic Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
RS1794456297 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome, Coffin-Siris syndrome 1
RS1794468027 ARID1B Health Risk Pathogenic —
RS1794472287 ELN Health Risk Pathogenic —
RS1794473050 EYA4 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
RS1794475164 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS1794490994 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1794509686 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1794516424 ARPC1B Health Risk Pathogenic Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
RS1794524337 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS1794536022 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS1794540164 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrullinemia type II
RS1794541339 SLC25A13 Health Risk Pathogenic Citrin deficiency, SLC25A13-related disorder
RS1794549840 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1794550318 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1794553748 ARPC1B Health Risk Pathogenic Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
RS1794555916 ARID1B Health Risk Likely pathogenic —
RS1794557198 ARID1B Health Risk Pathogenic —
RS1794559320 ARPC1B Health Risk Likely pathogenic Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease
RS1794563443 ARID1B Health Risk Pathogenic Intellectual disability, Intellectual disability
RS1794569741 ARID1B Health Risk Pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS1794570475 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1794574986 SLC25A13 Health Risk Likely pathogenic Citrin deficiency, Citrullinemia
RS1794575659 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Inflammatory skin and bowel disease
RS1794583960 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1794584714 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1794602270 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1794603796 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1794604371 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1794611030 ARPC1B Health Risk Pathogenic/Likely pathogenic ARPC1B-related disorder, ARPC1B-related disorder
RS1794651890 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1794675671 ARPC1B Health Risk Likely pathogenic —
RS1794702760 POT1 Health Risk Likely pathogenic Tumor predisposition syndrome 3, Tumor predisposition syndrome 3
RS1794703569 POT1 Health Risk Pathogenic/Likely pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1794705540 POT1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1794705650 POT1 Health Risk Conflicting classifications of pathogenicity Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1794766796 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Autosomal recessive nonsyndromic hearing loss 97
RS1794768738 VARS2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS1794774221 SLC25A13 Health Risk Pathogenic Citrullinemia, type II
RS1794789052 VARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 20, Combined oxidative phosphorylation defect type 20
RS1794834161 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS1794834628 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS1794836064 MET Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1794836188 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency
RS1794867368 CUX1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
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