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
RS2135410340 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS2135410460 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS2135414009 INPPL1 Health Risk Likely pathogenic Opsismodysplasia, Opsismodysplasia
RS2135418994 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2135421164 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135421507 PCDH15 Health Risk Pathogenic —
RS2135421629 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135421772 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135421887 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135421905 PCDH15 Health Risk Pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS2135422280 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2135422352 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135422402 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135422617 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135424366 MYO7A Health Risk Likely pathogenic —
RS2135426679 INPPL1 Health Risk Pathogenic —
RS2135426817 FANCC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia
RS2135427018 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2135428096 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2135428273 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135428776 C2CD3 Health Risk Pathogenic —
RS2135430236 MYO7A Health Risk Pathogenic —
RS2135430894 MYO7A Health Risk Pathogenic —
RS2135433834 COL27A1 Health Risk Likely pathogenic —
RS2135434002 COL27A1 Health Risk Pathogenic —
RS2135437164 NFKB2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS2135437962 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS2135438529 INPPL1 Health Risk Likely pathogenic Opsismodysplasia, Opsismodysplasia
RS2135440992 INPPL1 Health Risk Pathogenic —
RS2135442758 SLC22A12 Health Risk Pathogenic Dalmatian hypouricemia, Dalmatian hypouricemia
RS2135443636 NFKB2 Health Risk Pathogenic Immunodeficiency, common variable
RS2135445164 SLC22A12 Health Risk Pathogenic —
RS2135446720 INPPL1 Health Risk Likely pathogenic —
RS2135449650 INPPL1 Health Risk Pathogenic —
RS2135453120 COL27A1 Health Risk Pathogenic —
RS2135465268 MYO7A Health Risk Pathogenic —
RS2135465689 PHF21A Health Risk Pathogenic Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
RS2135467951 SPTBN2 Health Risk Pathogenic —
RS2135468678 CLMP Health Risk Pathogenic —
RS2135472044 MYO7A Health Risk Pathogenic —
RS2135473615 MYO7A Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS2135473984 MYO7A Health Risk Likely pathogenic —
RS2135478294 MYO7A Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 11, Autosomal dominant nonsyndromic hearing loss 11
RS2135478379 MYO7A Health Risk Pathogenic —
RS2135484551 PHF21A Health Risk Pathogenic —
RS2135484845 PHF21A Health Risk Pathogenic —
RS2135485868 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS2135486189 MYO7A Health Risk Pathogenic —
RS2135489647 FAM111A Health Risk Likely pathogenic —
RS2135491492 SPTBN2 Health Risk Likely pathogenic —
RS2135493230 C2CD3 Health Risk Pathogenic/Likely pathogenic Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS2135493809 MYO7A Health Risk Pathogenic —
RS2135494876 MYO7A Health Risk Likely pathogenic —
RS2135495180 MYO7A Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS2135499848 MYO7A Health Risk Likely pathogenic —
RS2135500473 CLPB Health Risk Likely pathogenic 3-methylglutaconic aciduria, type VIIB
RS2135500838 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS2135501951 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2135504652 MYO7A Health Risk Pathogenic —
RS2135505571 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135506851 ATM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2135507457 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135507546 ATM Health Risk Pathogenic Gastric cancer, Ataxia-telangiectasia syndrome
RS2135507893 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135508789 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135509419 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135509713 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135510485 CLPB Health Risk Pathogenic Neutropenia, severe congenital
RS2135511329 EHMT1 Health Risk Likely pathogenic —
RS2135511963 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2135513350 EHMT1 Health Risk Pathogenic —
RS2135517143 MYO7A Health Risk Likely pathogenic —
RS2135518421 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome
RS2135522530 COL27A1 Health Risk Likely pathogenic —
RS2135522860 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135523450 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135524751 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135526204 SPTBN2 Health Risk Likely pathogenic Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS2135526299 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS2135527696 ATM Health Risk Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2135531602 COL27A1 Health Risk Pathogenic/Likely pathogenic Steel syndrome, Steel syndrome
RS2135539546 ARCN1 Health Risk Likely pathogenic Short stature, rhizomelic
RS2135542081 ARCN1 Health Risk Pathogenic Short stature, rhizomelic
RS2135542758 ARCN1 Health Risk Likely pathogenic Short stature, rhizomelic
RS2135547107 ATM Health Risk Likely pathogenic Breast carcinoma, Breast carcinoma
RS2135547194 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135547229 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135547839 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135547909 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135548845 RELA Health Risk Pathogenic —
RS2135549026 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135549049 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135549951 RELA Health Risk Pathogenic —
RS2135550200 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Autosomal recessive nonsyndromic hearing loss 2
RS2135551484 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135551778 NECTIN1 Health Risk Likely pathogenic Cleft lip/palate-ectodermal dysplasia syndrome, Cleft lip/palate-ectodermal dysplasia syndrome
RS2135552016 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135552095 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135552199 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135552390 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
« Prev 1 ... 1769 1770 1771 1772 1773 1774 1775 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →