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
RS149893977 HUWE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, HUWE1-related disorder
RS149894086 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, P3H1-related disorder
RS149894438 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Primary ciliary dyskinesia
RS149894811 PYCR2 Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 10, Inborn genetic diseases
RS149896778 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS149896793 LAMA2 Health Risk Pathogenic/Likely pathogenic LAMA2-related muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS149897209 ALX4 Health Risk Conflicting classifications of pathogenicity Parietal foramina 2, Parietal foramina 2
RS149897566 CYP27A1 Health Risk Likely pathogenic Cholestanol storage disease, CYP27A1-related disorder
RS149898744 EPAS1 Health Risk Conflicting classifications of pathogenicity Erythrocytosis, familial
RS149898884 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS149898933 PHF21A Health Risk Conflicting classifications of pathogenicity PHF21A-related disorder, PHF21A-related disorder
RS149899465 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS149899658 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS149900041 RERE Health Risk Conflicting classifications of pathogenicity —
RS149901087 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS149901147 CRB2 Health Risk Conflicting classifications of pathogenicity CRB2-related disorder, CRB2-related disorder
RS149902075 MANBA Health Risk Conflicting classifications of pathogenicity Beta-D-mannosidosis, Beta-D-mannosidosis
RS149902566 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS149902597 CRYBB1 Health Risk Conflicting classifications of pathogenicity Cataract 17 multiple types, Cataract 17 multiple types
RS149902988 NR3C2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant pseudohypoaldosteronism type 1, Inborn genetic diseases
RS149903512 SLC35A1 Health Risk Conflicting classifications of pathogenicity SLC35A1-congenital disorder of glycosylation, SLC35A1-congenital disorder of glycosylation
RS149903666 TUBB4A Health Risk Conflicting classifications of pathogenicity Torsion dystonia 4, Hypomyelinating leukodystrophy 6
RS149905705 MME Health Risk Pathogenic Congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization, Spinocerebellar ataxia 43
RS149905863 PIK3R1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 36 with lymphoproliferation, Agammaglobulinemia 7
RS149905926 FCGBP Health Risk Conflicting classifications of pathogenicity —
RS149905969 CFHR5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149906722 NOTCH2 Health Risk Conflicting classifications of pathogenicity —
RS149907021 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Inborn genetic diseases
RS149907912 PANK2 Health Risk Conflicting classifications of pathogenicity Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS149907931 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Cardiovascular phenotype
RS149908718 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS149908903 ARHGEF10L Health Risk Likely pathogenic Cerebral visual impairment and intellectual disability, Cerebral visual impairment and intellectual disability
RS149910287 MSH4 Health Risk Pathogenic Spermatogenic failure 2, Spermatogenic failure 2
RS149910296 COL6A1 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS149910892 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS149911447 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS149911553 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS149912348 TYR Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS149912574 CASP10 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
RS149912717 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
RS149912828 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS149913848 ZNF526 Health Risk Conflicting classifications of pathogenicity —
RS149914792 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Limb-girdle muscular dystrophy
RS149915190 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS149916476 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS149917017 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group A
RS149917878 ITGA6 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS149918318 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder
RS149918940 RAX2 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 11, Age related macular degeneration 6
RS149918986 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS149919024 LRRC56 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS149919890 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, Autosomal recessive nonsyndromic hearing loss 8
RS149920599 AKR1D1 Health Risk Conflicting classifications of pathogenicity AKR1D1-related disorder, AKR1D1-related disorder
RS149921607 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS149921636 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Mitochondrial DNA depletion syndrome
RS149924028 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS149924115 DNAAF5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS149925563 TTC21B Health Risk Conflicting classifications of pathogenicity Joubert syndrome 1, Jeune thoracic dystrophy
RS149926178 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS149926238 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Renal hypodysplasia/aplasia 1
RS149926974 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS149927009 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS149927060 LIPE Health Risk Conflicting classifications of pathogenicity LIPE-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy
RS149927148 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS149927607 ERCC4 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome, Xeroderma pigmentosum
RS149929505 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS149929637 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS149929851 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS149929989 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS149930148 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS149930229 SLC39A13 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, spondylocheirodysplastic type
RS149930872 PKP2 Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS149931943 CHRNG Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Autosomal recessive multiple pterygium syndrome
RS149932808 WAS Health Risk Conflicting classifications of pathogenicity Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia
RS149932943 LMAN1 Health Risk Conflicting classifications of pathogenicity Factor V and factor VIII, combined deficiency of
RS149936603 GNAT1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 3, Congenital stationary night blindness autosomal dominant 3
RS149937760 RECQL Health Risk Conflicting classifications of pathogenicity RECQL-related disorder, RECQL-related disorder
RS149938052 CFH Health Risk Conflicting classifications of pathogenicity CFH-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II, Age related macular degeneration 4
RS149938546 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS149939736 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS149940233 CLCNKB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bartter disease type 3
RS149941106 LHFPL5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 67, Autosomal recessive nonsyndromic hearing loss 67
RS149941578 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS149942213 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS149942219 MARVELD2 Health Risk Conflicting classifications of pathogenicity —
RS149945495 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS149946271 PKLR Health Risk Conflicting classifications of pathogenicity Pyruvate kinase deficiency of red cells, Pyruvate kinase hyperactivity
RS149946676 SLCO2A1 Health Risk Conflicting classifications of pathogenicity Hypertrophic osteoarthropathy, primary
RS149948788 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 59, Retinitis pigmentosa 59
RS149949294 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Deafness
RS149949619 DHDDS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa 59
RS149949633 ABCA7 Health Risk Likely pathogenic —
RS149949971 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS149951350 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS149951380 DDOST Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation type Ir, Congenital disorder of glycosylation type Ir
RS149951538 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS149952751 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS149953167 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS149953380 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS149953813 NDUFS2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
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