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
RS147693556 CNTN2 Health Risk Conflicting classifications of pathogenicity Epilepsy, familial adult myoclonic
RS147693839 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS147694025 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, ADAMTS10-related disorder
RS1476947005 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS147695170 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS147695336 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS147695826 ITGB4 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa, junctional 5A
RS147696366 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS1476968223 ORC6 Health Risk Pathogenic —
RS147697454 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS147697502 ZC3H3 Health Risk Conflicting classifications of pathogenicity —
RS147697562 CEP135 Health Risk Conflicting classifications of pathogenicity —
RS147697594 SCP2 Health Risk Conflicting classifications of pathogenicity —
RS147697689 SLC5A2 Health Risk Conflicting classifications of pathogenicity Familial renal glucosuria, Familial renal glucosuria
RS147699032 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Inborn genetic diseases
RS147700538 COX20 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS147700643 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS147701785 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS147702169 DLX3 Health Risk Conflicting classifications of pathogenicity Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism, Inborn genetic diseases
RS147702216 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147702970 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS147703145 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS147703146 GRHL2 Health Risk Conflicting classifications of pathogenicity —
RS1477039147 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS147704542 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS147704593 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, APC-Associated Polyposis Disorders
RS147705644 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS147706025 TRPA1 Health Risk Conflicting classifications of pathogenicity Familial episodic pain syndrome with predominantly upper body involvement, Familial episodic pain syndrome with predominantly upper body involvement
RS147706051 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS147706206 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, Inborn genetic diseases
RS1477062289 HK1 Health Risk Conflicting classifications of pathogenicity —
RS147706488 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS147706514 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS147706810 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS147707126 PDGFRB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147707189 ESPN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ESPN-related disorder
RS147707348 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder
RS147708058 IQCB1 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 5, Nephronophthisis
RS1477087145 NR2E3 Health Risk Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS147708782 MYH2 Health Risk Pathogenic Myopathy, proximal
RS1477098739 BBS5 Health Risk Likely pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome
RS1477098845 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS147710123 NDUFS7 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS1477101279 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1477101414 L2HGDH Health Risk Pathogenic L-2-hydroxyglutaric aciduria, Inborn genetic diseases
RS1477102573 EVC2 Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS147710374 MYH11 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Familial thoracic aortic aneurysm and aortic dissection
RS147710692 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS147711581 ALG11 Health Risk Conflicting classifications of pathogenicity ALG11-congenital disorder of glycosylation, ALG11-congenital disorder of glycosylation
RS147712217 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum
RS147712866 DEPTOR Health Risk Conflicting classifications of pathogenicity —
RS147713329 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS147714487 CTC1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Cerebroretinal microangiopathy with calcifications and cysts 1
RS147715336 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS147715960 TRRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147716407 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS1477164195 NLRP3 Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Cryopyrin associated periodic syndrome
RS147716924 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS147717147 PCDH15 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147717802 STRC Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 16, Autosomal recessive nonsyndromic hearing loss 16
RS147718043 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS147718169 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS147718607 ODAD1 Health Risk Pathogenic Primary ciliary dyskinesia 20, Kartagener syndrome
RS147718736 MCOLN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mucolipidosis type IV
RS147719256 FRAS1 Health Risk Conflicting classifications of pathogenicity FRAS1-related disorder, Fraser syndrome 1
RS147719291 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1477193473 BLM Health Risk Pathogenic Bloom syndrome, Bloom syndrome
RS1477198098 APOA5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS147719815 NDUFV1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS147719822 BCKDHB Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, BCKDHB-related disorder
RS1477199832 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS147721058 AGT Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis of genetic origin, Renal tubular dysgenesis of genetic origin
RS1477219115 LZTR1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS1477219779 SLC25A13 Health Risk Likely pathogenic Citrullinemia, type II
RS1477223199 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS147724326 HSPB3 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS147725300 PSG6 Health Risk Conflicting classifications of pathogenicity —
RS1477257356 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS147726156 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS147726523 CDHR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147727753 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS147727900 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS147728279 RTTN Health Risk Conflicting classifications of pathogenicity Microcephalic primordial dwarfism due to RTTN deficiency, Inborn genetic diseases
RS147728691 CLCN2 Health Risk Conflicting classifications of pathogenicity Familial hyperaldosteronism type II, Leukoencephalopathy with mild cerebellar ataxia and white matter edema
RS1477293410 OTOF Health Risk Likely pathogenic Tricho-oculo-dermo-vertebral syndrome, Tricho-oculo-dermo-vertebral syndrome
RS147729713 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1477306020 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS147730653 CDC45 Health Risk Conflicting classifications of pathogenicity —
RS147730705 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome type 1, Imerslund-Grasbeck syndrome
RS147731088 MEGF10 Health Risk Conflicting classifications of pathogenicity MEGF10-related myopathy, MEGF10-related disorder
RS1477313214 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1477314740 PDE6A Health Risk Pathogenic —
RS1477315899 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS147732522 SALL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Duane-radial ray syndrome
RS147732725 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Inborn genetic diseases
RS147732750 BRAF Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS147732875 SLC17A5 Health Risk Conflicting classifications of pathogenicity Salla disease, Sialic acid storage disease
RS1477341630 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS147734242 COL17A1 Health Risk Likely pathogenic COL17A1-related disorder, Epidermolysis bullosa
RS1477347690 TSEN2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2B, Pontocerebellar hypoplasia type 2B
« Prev 1 ... 682 683 684 685 686 687 688 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →