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
RS200881888 SETBP1 Health Risk Conflicting classifications of pathogenicity Joint laxity, Generalized joint hypermobility
RS200882049 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS200882287 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Ehlers-Danlos syndrome
RS200883019 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS200883218 CEP152 Health Risk Conflicting classifications of pathogenicity Microcephaly 9, primary
RS200883235 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS200883270 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS200883282 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS200883344 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, Achromatopsia 4
RS200883351 SHANK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200883484 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200883871 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS200883903 MYH6 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14
RS200884031 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS200884153 SPINK5 Health Risk Conflicting classifications of pathogenicity Netherton syndrome, Ichthyosis linearis circumflexa
RS200884355 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS200884440 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS200885195 TRIM8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200885420 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS200885538 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS200885603 SERPINF2 Health Risk Likely pathogenic —
RS200886865 COL18A1 Health Risk Conflicting classifications of pathogenicity Knobloch syndrome, COL18A1-related disorder
RS200887085 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200887225 RAI1 Health Risk Conflicting classifications of pathogenicity —
RS200887424 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS200887429 GARS1 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS200887475 IREB2 Health Risk Conflicting classifications of pathogenicity —
RS200887499 VPS11 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 12, Hypomyelinating leukodystrophy 12
RS200887792 RUSC2 Health Risk Conflicting classifications of pathogenicity —
RS200887855 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS200888184 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS200888240 ALG8 Health Risk Pathogenic/Likely pathogenic ALG8 congenital disorder of glycosylation, Polycystic liver disease 3 with or without kidney cysts
RS200888451 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS200888867 SYTL5 Health Risk Conflicting classifications of pathogenicity —
RS200889203 HYOU1 Health Risk Conflicting classifications of pathogenicity Granulocytopenia with immunoglobulin abnormality, Granulocytopenia with immunoglobulin abnormality
RS200889952 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS200889953 ALPK3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS200890386 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS200890670 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS200890712 ZNF81 Health Risk Conflicting classifications of pathogenicity —
RS200891292 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS200891478 MPDZ Health Risk Conflicting classifications of pathogenicity MPDZ-related disorder, MPDZ-related disorder
RS200891878 SLIT2 Health Risk Conflicting classifications of pathogenicity —
RS200891944 ATP1A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Dystonia 12
RS200891969 GCH1 Health Risk Conflicting classifications of pathogenicity Dopa-responsive dystonia, Dystonia 5
RS200892634 ADCY5 Health Risk Conflicting classifications of pathogenicity Dyskinesia with orofacial involvement, autosomal dominant
RS200892831 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Inborn genetic diseases
RS200892904 ADGRG1 Health Risk Conflicting classifications of pathogenicity Polymicrogyria, bilateral perisylvian
RS200893203 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS200893443 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS200893674 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200893787 C2CD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200893871 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases
RS200893930 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS200893937 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS200893951 SLC34A1 Health Risk Pathogenic/Likely pathogenic Fanconi renotubular syndrome 2, Hypercalcemia
RS200894045 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS200894344 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS200894372 TRPV3 Health Risk Conflicting classifications of pathogenicity —
RS200894751 ECE1 Health Risk Likely pathogenic Aganglionic megacolon, Aganglionic megacolon
RS200895258 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lymphatic malformation 6
RS200895370 SEMA7A Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS200895671 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS200896958 RGS9 Health Risk Pathogenic —
RS200897029 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS200897030 LZTR1 Health Risk Conflicting classifications of pathogenicity LZTR1-related schwannomatosis, Cardiovascular phenotype
RS200897068 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Inborn genetic diseases
RS200897149 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS200897747 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS200897773 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS200897893 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, PNPLA2-related disorder
RS200897962 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS200898069 ANK1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hereditary spherocytosis type 1
RS200898220 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200898383 LPIN1 Health Risk Conflicting classifications of pathogenicity Myoglobinuria, acute recurrent
RS200898424 IGSF10 Health Risk Conflicting classifications of pathogenicity —
RS200898632 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS200898742 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS200898955 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200899102 KIDINS220 Health Risk Conflicting classifications of pathogenicity KIDINS220-related disorder, Inborn genetic diseases
RS200899260 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS200899486 C1R Health Risk Conflicting classifications of pathogenicity C1R-related disorder, C1R-related disorder
RS200899695 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS200899806 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200899973 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS200900053 PTPN6 Health Risk Conflicting classifications of pathogenicity —
RS200900192 TDP1 Health Risk Conflicting classifications of pathogenicity —
RS200900510 TNFRSF1A Health Risk Conflicting classifications of pathogenicity Behcet disease, TNF receptor-associated periodic fever syndrome (TRAPS)
RS200900730 NTRK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200901072 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS200901179 ARFGEF1 Health Risk Likely pathogenic Developmental delay, impaired speech
RS200901330 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS200901459 SCN10A Health Risk Conflicting classifications of pathogenicity —
RS200901466 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, P3H1-related disorder
RS200901687 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200901713 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS200901816 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS200901862 TMEM147 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with facial dysmorphism, absent language
RS200902055 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS200902087 GJB3 Health Risk Conflicting classifications of pathogenicity GJB3-related disorder, GJB3-related disorder
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