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
RS188965257 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial isolated pituitary adenoma
RS188965373 THRA Health Risk Conflicting classifications of pathogenicity THRA-related disorder, THRA-related disorder
RS188966111 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PIEZO1-related disorder
RS188967260 COL4A3 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS1889714810 DICER1 Health Risk Likely pathogenic —
RS188976869 SBF1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease type 4B3
RS188978150 GBA1 Health Risk Conflicting classifications of pathogenicity GBA1-related disorder, Gaucher disease
RS1889794873 DICER1 Health Risk Pathogenic —
RS1889798515 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1889801913 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1889805083 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1889805730 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Ovarian gynandroblastoma
RS1889806272 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Sertoli-Leydig cell tumor
RS1889806807 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Primary intracranial sarcoma
RS1889808547 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Follicular thyroid carcinoma
RS1889809530 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1889810279 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1889814539 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS188988614 USH2A Health Risk Pathogenic —
RS188988714 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS1889895576 TECPR2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS188992180 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1889954831 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Rhabdomyosarcoma
RS1889959221 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS188996270 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, ABCB11-related disorder
RS1889964880 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS1889965425 GABRB3 Health Risk Likely pathogenic Epilepsy, childhood absence
RS1889965563 GABRB3 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1889966043 GABRB3 Health Risk Pathogenic/Likely pathogenic Epilepsy, childhood absence
RS1889966424 GABRB3 Health Risk Pathogenic/Likely pathogenic Epilepsy, childhood absence
RS1889966534 GABRB3 Health Risk Likely pathogenic Epilepsy, childhood absence
RS1889966666 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS188996850 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS189000268 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1890013661 POMT2 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1890046687 FANCM Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS189005323 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
RS1890067345 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890068894 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890079630 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890082420 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890096157 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, L-2-hydroxyglutaric aciduria
RS1890097519 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890098380 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890098663 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890099387 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890100882 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890101135 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Primary intracranial sarcoma
RS1890101390 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890104356 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890124015 TRPV4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS1890129676 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease axonal type 2C
RS189014161 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome
RS189015988 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS189019392 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS1890198564 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1890203292 FANCM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fanconi anemia
RS189021816 PALLD Health Risk Conflicting classifications of pathogenicity Pancreatic adenocarcinoma, Pancreatic cancer
RS1890228169 GABRB3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 43
RS1890229008 GABRB3 Health Risk Pathogenic/Likely pathogenic Epilepsy, childhood absence
RS189022924 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS1890229646 GABRB3 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 43
RS1890260072 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890262867 FBN1 Health Risk Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
RS1890264859 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890265960 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1890266885 DICER1 Health Risk Pathogenic —
RS1890292272 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1890302137 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS189030321 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1890320100 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890320711 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS1890322492 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189032342 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Monogenic diabetes
RS1890324311 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890324880 NEMF Health Risk Pathogenic Intellectual developmental disorder with speech delay and axonal peripheral neuropathy, See cases
RS1890334025 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS189033490 SACK1H Health Risk Conflicting classifications of pathogenicity FAM83H-related disorder, Amelogenesis imperfecta
RS189033496 GPSM2 Health Risk Conflicting classifications of pathogenicity Chudley-McCullough syndrome, GPSM2-related disorder
RS1890343709 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS1890349244 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890350105 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890354220 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1890354731 DICER1 Health Risk Likely pathogenic —
RS1890356742 MAGEL2 Health Risk Likely pathogenic Prader-Willi syndrome, Prader-Willi syndrome
RS1890358679 MAGEL2 Health Risk Pathogenic/Likely pathogenic Schaaf-Yang syndrome, Schaaf-Yang syndrome
RS189036094 OPA1 Health Risk Conflicting classifications of pathogenicity Abortive cerebellar ataxia, Abortive cerebellar ataxia
RS1890362623 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS189036647 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS1890372937 DICER1 Health Risk Pathogenic DICER1-related tumor predisposition, DICER1-related tumor predisposition
RS1890380349 MAGEL2 Health Risk Likely pathogenic —
RS1890386731 MAGEL2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1890387347 MAGEL2 Health Risk Pathogenic/Likely pathogenic Intellectual disability, Schaaf-Yang syndrome
RS1890391528 MAGEL2 Health Risk Pathogenic —
RS1890395046 ZFYVE19 Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS1890397401 MAGEL2 Health Risk Pathogenic Schaaf-Yang syndrome, Inborn genetic diseases
RS1890404007 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS1890412444 TRPV4 Health Risk Conflicting classifications of pathogenicity TRPV4-associated skeletal dysplasias, TRPV4-associated skeletal dysplasias
RS189042259 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PCARE-related disorder
RS1890442258 MAGEL2 Health Risk Likely pathogenic —
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