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
RS1002452733 LARS1 Health Risk Pathogenic —
RS1002472211 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS1002519501 GNB1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1002525817 PDZD7 Health Risk Likely pathogenic Ear malformation, Ear malformation
RS1002563490 TMPRSS15 Health Risk Conflicting classifications of pathogenicity Enterokinase deficiency, Enterokinase deficiency
RS1002571805 MMACHC Health Risk Conflicting classifications of pathogenicity Cobalamin C disease, Cobalamin C disease
RS1002572191 KIF15 Health Risk Pathogenic Braddock-carey syndrome 2, Braddock-carey syndrome 2
RS1002596641 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1002601808 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS1002617439 IBA57 Health Risk Likely pathogenic —
RS1002648603 NEXN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 20
RS1002670314 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Inborn genetic diseases
RS1002670900 IFT140 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Saldino-Mainzer syndrome
RS1002699754 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), Peroxisome biogenesis disorder 11A (Zellweger)
RS1002712424 HEXA Health Risk Pathogenic Tay-Sachs disease, Tay-Sachs disease
RS1002726737 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS1002758195 TMC8 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to
RS1002770054 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1002774016 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1002820022 NRXN1 Health Risk Likely pathogenic —
RS1002831578 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS1002835395 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS1002845719 COL7A1 Health Risk Likely pathogenic Transient bullous dermolysis of the newborn, 7 conditions
RS1002854345 CEP55 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1002900129 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS10029227 FRAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, FRAS1-related disorder
RS1002936688 ITGB4 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS1003012321 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, 6 conditions
RS1003032218 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Inborn genetic diseases
RS1003057639 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS1003059932 KIF26A Health Risk Pathogenic Cortical dysplasia, complex
RS1003067844 SPTAN1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1003144287 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1003144542 DNHD1 Health Risk Likely pathogenic Spermatogenic failure 65, Spermatogenic failure 65
RS1003155450 KMT2C Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
RS1003226456 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1003232768 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1003255370 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS1003255472 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1003364563 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1003387951 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS1003442806 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1003451291 ESCO2 Health Risk Likely pathogenic —
RS1003478010 ANKRD11 Health Risk Pathogenic KBG syndrome, Inborn genetic diseases
RS10034957 NEK1 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 6 with or without polydactyly, NEK1-related disorder
RS1003504532 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1003536346 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1003539672 CHST3 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS1003546368 FRAS1 Health Risk Likely pathogenic —
RS1003575600 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1003586835 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1003590403 PIKFYVE Health Risk Pathogenic —
RS1003611285 GCDH Health Risk Pathogenic/Likely pathogenic Glutaric aciduria, type 1
RS1003615909 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa
RS1003676784 DRC2 Health Risk Pathogenic Primary ciliary dyskinesia 27, Primary ciliary dyskinesia 27
RS1003677220 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1003705057 MME Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2T, Charcot-Marie-Tooth disease axonal type 2T
RS1003711941 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1003713657 FBXO11 Health Risk Conflicting classifications of pathogenicity —
RS1003722483 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1003745171 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS1003748020 COL4A4 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Meniere disease
RS1003779807 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1003816966 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1003823098 GRN Health Risk Pathogenic Parkinsonian disorder, Parkinsonian disorder
RS1003833483 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1003856768 ZBTB20 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1003869920 USH2A Health Risk Pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1003872402 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1003901489 SFTPC Health Risk Pathogenic/Likely pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS1003914966 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS1003917080 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS1003922271 DNAJC19 Health Risk Likely pathogenic Malignant tumor of esophagus, 3-methylglutaconic aciduria type 5
RS1003952760 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1003957584 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS1003960580 CHRNG Health Risk Pathogenic —
RS1004027979 BTD Health Risk Pathogenic/Likely pathogenic Biotinidase deficiency, Biotinidase deficiency
RS1004064327 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS1004072211 ANO5 Health Risk Pathogenic —
RS10040926 PCDH12 Health Risk Conflicting classifications of pathogenicity Diencephalic-mesencephalic junction dysplasia syndrome 1, Inborn genetic diseases
RS1004103406 TBCK Health Risk Likely pathogenic Hypotonia, infantile
RS1004130638 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1004143711 FOXP1 Health Risk Conflicting classifications of pathogenicity —
RS1004229674 NPAT Health Risk Conflicting classifications of pathogenicity —
RS1004254149 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1004264460 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1004311291 PRPF8 Health Risk Conflicting classifications of pathogenicity —
RS1004337827 LRBA Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1004363452 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS1004373312 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1004380299 SNUPN Health Risk Conflicting classifications of pathogenicity SNUPN deficiency muscular dystrophy, SNUPN deficiency muscular dystrophy
RS1004428835 ZNF469 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 1, Cardiovascular phenotype
RS1004455055 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1004469515 RMRP Health Risk Pathogenic Metaphyseal chondrodysplasia, McKusick type
RS1004486722 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS1004492719 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia type I, Citrullinemia
RS1004494435 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS1004518756 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Dilated cardiomyopathy 1C
RS1004549438 SLC25A13 Health Risk Pathogenic Citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency
RS1004559050 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa 25
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