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
RS56194813 KCNJ2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS561948671 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Inborn genetic diseases
RS56195026 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS561968273 RTN2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS561973288 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS561976569 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS561977468 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS561979536 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS56198082 MLH1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS561984280 HOGA1 Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS56198613 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 11
RS561988641 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS561991886 MAN2B1 Health Risk Pathogenic/Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS561995236 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS56199535 ABCC2 Health Risk Pathogenic/Likely pathogenic Dubin-Johnson syndrome, ABCC2-related disorder
RS56199702 GJA1 Health Risk Conflicting classifications of pathogenicity Hypoplastic left heart syndrome 1, Oculodentodigital dysplasia
RS561997536 COL7A1 Health Risk Pathogenic/Likely pathogenic 7 conditions, Recessive dystrophic epidermolysis bullosa
RS561998108 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS56199814 LAMC2 Health Risk Pathogenic —
RS56200325 MAP2K1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS56200357 PINK1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive early-onset Parkinson disease 6, Autosomal recessive early-onset Parkinson disease 6
RS56201325 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS562015640 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 1
RS562015789 DSP Health Risk Conflicting classifications of pathogenicity Woolly hair-skin fragility syndrome, Arrhythmogenic right ventricular dysplasia 8
RS56202589 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS56203086 CHRND Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS562033874 IFT140 Health Risk Pathogenic Saldino-Mainzer syndrome, Saldino-Mainzer syndrome
RS562037528 SEMA4A Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 10, Retinitis pigmentosa
RS562037932 RPE65 Health Risk Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 20
RS56203955 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS56204128 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS562042076 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS56204273 WHRN Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2D, Autosomal recessive nonsyndromic hearing loss 31
RS56204478 ABCG5 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Sitosterolemia 1
RS562047 HSPA1A Health Risk association Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease
RS562049567 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS562051715 POC1A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56205407 TLR1 Health Risk Pathogenic Rheumatoid arthritis, Rheumatoid arthritis
RS562055008 ADA Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS562067191 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS562076616 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS562081460 RIMS1 Health Risk Conflicting classifications of pathogenicity —
RS56208331 GATA4 Health Risk Conflicting classifications of pathogenicity Atrial septal defect 2, Tetralogy of Fallot
RS562096116 RAB3GAP2 Health Risk Conflicting classifications of pathogenicity Warburg micro syndrome 2, Martsolf syndrome
RS562098384 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Vici syndrome
RS562108874 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4
RS562113164 PNPLA6 Health Risk Pathogenic Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS562115547 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS56212434 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Immunodeficiency 35
RS562132292 ERCC2 Health Risk Conflicting classifications of pathogenicity —
RS562139820 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS562142736 MDFIC Health Risk Pathogenic Lymphatic malformation 12, MDFIC-related disorder
RS562147027 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS56214919 FXN Health Risk Likely pathogenic Friedreich ataxia, Friedreich ataxia
RS562153754 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS562155863 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS562163349 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS56216952 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS56217305 MAK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS562175196 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS562178341 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS562186095 SIPA1L3 Health Risk Conflicting classifications of pathogenicity —
RS56218710 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Bloom syndrome
RS562192619 ASXL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS56220353 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS562205568 FCSK Health Risk Conflicting classifications of pathogenicity Congenital disorder of glycosylation with defective fucosylation 2, Familial prostate cancer
RS562208324 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Early-infantile DEE
RS562215810 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS562218545 JMJD1C Health Risk Conflicting classifications of pathogenicity Early myoclonic encephalopathy, Early myoclonic encephalopathy
RS562224966 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS56222626 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS562229143 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS562235592 TAT Health Risk Conflicting classifications of pathogenicity Tyrosinemia type II, Tyrosinemia type II
RS562241770 POR Health Risk Conflicting classifications of pathogenicity Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, POR-related disorder
RS562245450 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS562248093 GUCY2D Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Leber congenital amaurosis 1
RS562249191 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS562250010 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Inborn genetic diseases
RS562253142 COL11A2 Health Risk Conflicting classifications of pathogenicity COL11A2-related disorder, COL11A2-related disorder
RS562254327 RNU12 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive 33
RS562257963 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS56225811 MERTK Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS562261414 CD81 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS562263201 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS562263817 PEX2 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 5A (Zellweger), Peroxisome biogenesis disorder 5A (Zellweger)
RS562264117 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS562268545 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS562268606 CDH23;PSAP Health Risk Conflicting classifications of pathogenicity Combined PSAP deficiency, Krabbe disease due to saposin A deficiency
RS562285027 UBAP1 Health Risk Conflicting classifications of pathogenicity UBAP1-related disorder, UBAP1-related disorder
RS56230601 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS562306188 CCDC88C Health Risk Likely pathogenic Hydrocephalus, nonsyndromic
RS562313391 C2CD3 Health Risk Conflicting classifications of pathogenicity C2CD3-related disorder, C2CD3-related disorder
RS56231927 ROR2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Robinow syndrome, Brachydactyly type B1
RS562319781 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS562324692 OBSCN Health Risk Conflicting classifications of pathogenicity —
RS562333691 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS562335164 IGF1R Health Risk Conflicting classifications of pathogenicity Growth delay due to insulin-like growth factor I resistance, Growth delay due to insulin-like growth factor I resistance
RS562352756 MAP2K2 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS562356966 CTC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS562363231 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
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