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
RS143080077 NOD2 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome
RS143080187 CRYBB2 Health Risk Conflicting classifications of pathogenicity Cataract 3 multiple types, CRYBB2-related disorder
RS1430810569 FAS Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 1, Autoimmune lymphoproliferative syndrome type 1
RS1430815251 TRPM1 Health Risk Likely pathogenic —
RS1430819064 SEPSECS Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS1430822242 MYLK Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 7
RS143082886 SPP2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1430830807 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 3, Low phospholipid associated cholelithiasis
RS143083764 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1430838005 USH2A Health Risk Pathogenic —
RS143083947 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS143084654 PAX4 Health Risk Conflicting classifications of pathogenicity —
RS1430849353 FKBP14 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type
RS143085842 TGM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1430859209 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS1430860231 NT5C2 Health Risk Likely pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS143086237 CDAN1 Health Risk Conflicting classifications of pathogenicity Anemia, congenital dyserythropoietic
RS1430866716 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1430868205 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Townes syndrome
RS143088184 SCN1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS1430884213 FKTN Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS143088941 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS143089816 NRIP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NRIP1-related disorder
RS1430903884 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS143090515 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS143090869 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS1430909928 ACAN Health Risk Likely pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS143091111 CPT1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS143091773 PTCH1 Health Risk Pathogenic —
RS1430919712 MID1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1430926156 FECH Health Risk Pathogenic Protoporphyria, erythropoietic
RS143093185 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1430938532 WFS1 Health Risk Likely pathogenic —
RS143094635 ABCA12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143095614 ADAM9 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 9, Cone-rod dystrophy 9
RS1430962566 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1430968530 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS1430976492 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS143098023 UBQLN2 Health Risk Conflicting classifications of pathogenicity UBQLN2-related disorder, Amyotrophic lateral sclerosis type 15
RS143098658 COCH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1430988476 NF1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS143100569 DOCK2 Health Risk Conflicting classifications of pathogenicity DOCK2 deficiency, DOCK2-related disorder
RS143100726 KRT9 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma, epidermolytic
RS1431008455 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS143101649 AKR1D1 Health Risk Conflicting classifications of pathogenicity Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS143101723 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS143101932 OTOGL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, OTOGL-related disorder
RS1431021703 CEP290 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS1431027601 CDH23 Health Risk Pathogenic Usher syndrome, Usher syndrome
RS143103233 JAK2 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS143103435 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy 1, Autosomal dominant nocturnal frontal lobe epilepsy
RS1431038360 KMT2D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Kabuki syndrome
RS143104068 H6PD Health Risk Conflicting classifications of pathogenicity H6PD-related disorder, H6PD-related disorder
RS1431047415 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1431048303 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS143105336 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS143105337 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS143105452 AP3D1 Health Risk Conflicting classifications of pathogenicity AP3D1-related disorder, Inborn genetic diseases
RS143107378 PARP4 Health Risk Conflicting classifications of pathogenicity —
RS143107403 CPA6 Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 5, Febrile seizures
RS143107549 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome 1
RS143108250 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS1431092862 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS143109320 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, KCNV2-related disorder
RS143109401 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS143109649 GYG2 Health Risk Conflicting classifications of pathogenicity GYG2-related disorder, GYG2-related disorder
RS143110172 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS1431104151 SLC1A2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 41
RS143110856 IDH3B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1431108613 EDAR Health Risk Likely pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS143111433 GCH1 Health Risk Conflicting classifications of pathogenicity Dystonia 5, GTP cyclohydrolase I deficiency
RS143112457 NHEJ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143112539 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS143113106 ZNF335 Health Risk Conflicting classifications of pathogenicity ZNF335-related disorder, ZNF335-related disorder
RS143113298 BBS5 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS143114026 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS143115096 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, COPA-related disorder
RS1431153587 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS143117018 NOTCH3 Health Risk Conflicting classifications of pathogenicity NOTCH3-related disorder, NOTCH3-related disorder
RS143117125 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Cardiovascular phenotype
RS143117380 CDC14A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1431177448 CACNA1A Health Risk Pathogenic —
RS143118084 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS143119333 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Inborn genetic diseases
RS143119491 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Inborn genetic diseases
RS1431206462 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiomyopathy
RS1431207606 TTC8 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 51, Bardet-Biedl syndrome
RS1431211616 ITGB3 Health Risk Pathogenic Bleeding disorder, platelet-type
RS143121527 OTUD6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual developmental disorder with dysmorphic facies
RS143124288 CBS Health Risk Pathogenic/Likely pathogenic HYPERHOMOCYSTEINEMIA, THROMBOTIC
RS143124744 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 5
RS143124972 NPC1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C1
RS143125111 TBXAS1 Health Risk Conflicting classifications of pathogenicity TBXAS1-related disorder, TBXAS1-related disorder
RS1431252268 COL7A1 Health Risk Likely pathogenic —
RS143126195 CLUAP1 Health Risk Conflicting classifications of pathogenicity —
RS1431264077 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS143126474 LHFPL5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67
RS143126491 TRIP11 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Achondrogenesis
RS143126677 COL7A1 Health Risk Conflicting classifications of pathogenicity Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS1431275151 NUBPL Health Risk Pathogenic —
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