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
RS1405745916 PIEZO1 Health Risk Conflicting classifications of pathogenicity Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
RS1405750745 ZFYVE27 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 33, Spastic paraplegia
RS140575355 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, ITGB4-related disorder
RS140575619 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Caveolinopathy
RS140575687 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS140575919 DSG2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 10, Cardiomyopathy
RS140575982 LRP2 Health Risk Conflicting classifications of pathogenicity LRP2-related disorder, LRP2-related disorder
RS140576123 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH5-related disorder
RS140576665 GH1 Health Risk Conflicting classifications of pathogenicity Decreased response to growth hormone stimulation test, Inborn genetic diseases
RS1405776096 TFR2 Health Risk Pathogenic/Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS140577642 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS140577744 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS140577812 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS140577908 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS140578009 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS1405780453 SNAP29 Health Risk Pathogenic —
RS140579674 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS1405800415 EEF1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 33
RS140580674 COL2A1 Health Risk Likely pathogenic Stickler syndrome type 1, Stickler syndrome type 1
RS140581019 SLC4A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140582220 PROC Health Risk Likely pathogenic Thrombophilia due to protein C deficiency, autosomal dominant
RS140583 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS140583215 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS140583358 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Acute myeloid leukemia
RS140583454 LTBP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140583554 OSGEP Health Risk Likely pathogenic Inborn genetic diseases, Galloway-Mowat syndrome 3
RS1405839597 COL7A1 Health Risk Likely pathogenic —
RS1405843505 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS140584449 SPTB Health Risk Conflicting classifications of pathogenicity —
RS1405846179 NDUFAF5 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 16
RS140584714 MGAT2 Health Risk Conflicting classifications of pathogenicity MGAT2-congenital disorder of glycosylation, Inborn genetic diseases
RS140584840 BLVRA Health Risk Conflicting classifications of pathogenicity —
RS140585012 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS1405850813 TNFRSF11A Health Risk Likely pathogenic —
RS140585347 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, PNPLA1-related disorder
RS1405855570 GATA4 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 4, Atrioventricular septal defect 4
RS140585577 SPTBN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1405864888 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Ovarian cancer
RS140586887 LRP2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Donnai-Barrow syndrome
RS140587295 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS140588417 SERPINH1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10, SERPINH1-related disorder
RS140588714 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1405889589 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS140589523 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 11
RS140590144 BMP4 Health Risk Conflicting classifications of pathogenicity Orofacial cleft 11, Microphthalmia with brain and digit anomalies
RS140590552 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS140590876 CROCC Health Risk Conflicting classifications of pathogenicity —
RS140591 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS140591237 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS140592 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS140592056 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Generalized juvenile polyposis/juvenile polyposis coli
RS140592434 DONSON Health Risk Conflicting classifications of pathogenicity DONSON-related disorder, DONSON-related disorder
RS140592470 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Inborn genetic diseases
RS1405926633 GHR Health Risk Pathogenic/Likely pathogenic —
RS140592811 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Cholestasis
RS140593 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan syndrome
RS1405935475 GCDH Health Risk Likely pathogenic Glutaric aciduria, type 1
RS140594137 FGFR3 Health Risk Conflicting classifications of pathogenicity —
RS140594879 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1405952769 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS140595322 SLC12A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 34
RS1405959055 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS140596100 DYNC2I1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 8 with or without polydactyly, Inborn genetic diseases
RS140596256 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS140597 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1405970656 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS140597965 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS1405984023 COL18A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1405985775 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS140598745 F5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital factor V deficiency
RS140599 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS140599939 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS140599944 OPTN Health Risk Pathogenic Amyotrophic lateral sclerosis type 12, Glaucoma 1
RS140600 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS140600202 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS140600385 TTC12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140600746 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1406011277 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS140601319 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Intellectual disability
RS140601427 SIX6 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Anophthalmia-microphthalmia syndrome
RS140601725 FZD4 Health Risk Conflicting classifications of pathogenicity Exudative vitreoretinopathy 1, Exudative vitreoretinopathy 1
RS140601882 SLC6A8 Health Risk Pathogenic Creatine transporter deficiency, Creatine transporter deficiency
RS140602150 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Distal myopathy
RS1406026055 MESD Health Risk Pathogenic —
RS140602858 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS140603 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1406033695 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS140603487 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS1406037834 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, Inborn genetic diseases
RS1406040264 SLCO2A1 Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS140604077 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS140604600 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS140606 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ectopia lentis 1
RS140606121 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS140606359 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS1406066197 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS140607282 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS140608161 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS140608845 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS140608882 TECTA Health Risk Conflicting classifications of pathogenicity —
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