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
RS199621975 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS199622112 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS199622680 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS199622789 TRIT1 Health Risk Conflicting classifications of pathogenicity TRIT1 Deficiency, Combined oxidative phosphorylation deficiency 35
RS199622889 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS199623010 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 11
RS199623434 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS199623625 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS199624074 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS199624315 KCTD7 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 3, Epileptic encephalopathy
RS199624584 SLC39A5 Health Risk Likely pathogenic Myopia 24, autosomal dominant
RS199624763 KLF11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 7, Maturity-onset diabetes of the young type 7
RS199624824 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS199624987 TMEM237 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 14, TMEM237-related disorder
RS199625640 CRLF1 Health Risk Conflicting classifications of pathogenicity —
RS199625891 WWOX Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 1
RS199625892 MLC1 Health Risk Conflicting classifications of pathogenicity MLC1-related disorder, MLC1-related disorder
RS199626036 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Inborn genetic diseases
RS199626332 ACD Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 6
RS199626372 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS199626373 CLIC5 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS199626476 AFG2A Health Risk Conflicting classifications of pathogenicity Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome, Inborn genetic diseases
RS199626531 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS199627092 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS199627281 NBAS Health Risk Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
RS199627577 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS199627578 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS199628110 CHMP1A Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 8, Pontocerebellar hypoplasia type 8
RS199628364 WWOX Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 28
RS199628430 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS199628481 NPHP4 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 4, Nephronophthisis
RS199628711 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS199628742 MYBPC1 Health Risk Conflicting classifications of pathogenicity —
RS199629080 SLC34A3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive hypophosphatemic bone disease, Autosomal recessive hypophosphatemic bone disease
RS199629212 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS199629596 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS199630012 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS199630307 CRB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199630678 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, Congenital bilateral aplasia of vas deferens from CFTR mutation
RS199631609 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS199631623 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS199631825 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS199632397 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS199632504 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS199632510 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, TCIRG1-related disorder
RS199632531 SERAC1 Health Risk Pathogenic 3-methylglutaconic aciduria with deafness, encephalopathy
RS199632752 HPDL Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, HPDL-related disorder
RS199632952 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS199633490 COL12A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS199633532 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS199634070 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Shprintzen-Goldberg syndrome
RS199634166 LRAT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199634245 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS199634303 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, COPA-related disorder
RS199634446 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS199634796 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS199635188 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS199635198 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
RS199636248 CABP4 Health Risk Pathogenic/Likely pathogenic Cone-rod synaptic disorder, congenital nonprogressive
RS199636312 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS199636364 CNGA1 Health Risk Pathogenic Retinitis pigmentosa 49, Retinitis pigmentosa
RS199636472 PLCG2 Health Risk Conflicting classifications of pathogenicity Familial cold autoinflammatory syndrome 3, Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
RS199636726 POMC Health Risk Conflicting classifications of pathogenicity Obesity, Obesity due to pro-opiomelanocortin deficiency
RS199636953 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Inborn genetic diseases
RS199637120 KCND3 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 9, Spinocerebellar ataxia type 19/22
RS199638075 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS199638097 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS199638121 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199638166 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS199638306 TRIO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199638362 F5 Health Risk Conflicting classifications of pathogenicity Factor V deficiency, Budd-Chiari syndrome
RS199638420 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, RYR3-related disorder
RS199638465 HCN4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 8
RS199638531 TECTA Health Risk Pathogenic Rare genetic deafness, Nonsyndromic genetic hearing loss
RS199638675 LIG4 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency
RS199639172 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS199639208 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS199639292 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, NSD1-related disorder
RS199639315 GLRA1 Health Risk Likely pathogenic —
RS199639878 MYH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199639914 RET Health Risk Conflicting classifications of pathogenicity Pheochromocytoma, Multiple endocrine neoplasia
RS199639940 MYL3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS199640034 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS199640194 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS199640385 YRDC Health Risk Conflicting classifications of pathogenicity —
RS199640503 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS199640596 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS199640712 ABCC9 Health Risk Conflicting classifications of pathogenicity Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS199640893 BLTP1 Health Risk Conflicting classifications of pathogenicity —
RS199640978 BAZ2B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Inborn genetic diseases
RS199641113 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, Inborn genetic diseases
RS199641124 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS199641250 CYP4F22 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS199641706 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS199641736 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS199641767 ATP8A2 Health Risk Conflicting classifications of pathogenicity —
RS199641806 COL27A1 Health Risk Pathogenic —
RS199642627 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Retinal dystrophy
RS199642915 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS199643061 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
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