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
RS141647790 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS141647931 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS141648576 TBC1D20 Health Risk Conflicting classifications of pathogenicity —
RS141649383 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 2, von Willebrand disease type 1
RS141649676 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS141649838 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141650477 NEK8 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Kidney disorder
RS141650598 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS141650732 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS141651423 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Inborn genetic diseases
RS141651575 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1416530706 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS141653630 ACVRL1 Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Telangiectasia
RS1416541339 TYRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1416551006 EDA Health Risk Likely pathogenic Hypohidrotic X-linked ectodermal dysplasia, Hypohidrotic X-linked ectodermal dysplasia
RS1416551470 POT1 Health Risk Pathogenic Tumor predisposition syndrome 3, Hereditary cancer-predisposing syndrome
RS1416564508 DMXL2 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS141656719 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS141656965 CERKL Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, CERKL-related disorder
RS141657203 LAMA1 Health Risk Conflicting classifications of pathogenicity —
RS1416572796 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, Hypophosphatasia
RS141657462 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS141658354 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS141658962 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS141659018 POLR3A Health Risk Pathogenic/Likely pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Wiedemann-Rautenstrauch-like progeroid syndrome
RS141659100 RAG2 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency, autosomal recessive
RS1416593064 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Charcot-Marie-Tooth disease
RS1416595652 VPS33B Health Risk Conflicting classifications of pathogenicity —
RS141659620 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS141659629 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS1416602859 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS1416605332 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS141660796 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS141661592 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS1416626270 KAT6B Health Risk Pathogenic —
RS1416626948 F13A1 Health Risk Pathogenic Myocardial infarction, susceptibility to
RS1416627860 PARN Health Risk Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1416631904 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1416634281 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS141663473 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A1-related disorder
RS141663645 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Clear cell carcinoma of kidney
RS141663679 CDT1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 4, Inborn genetic diseases
RS1416637363 CHST3 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS1416639166 DUOX2 Health Risk Pathogenic —
RS1416639878 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS141664029 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Jeune thoracic dystrophy
RS141666036 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1416667283 LRP2 Health Risk Likely pathogenic —
RS141667969 KAT6A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141669724 WFS1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 6, WFS1-Related Spectrum Disorders
RS141670485 SCYL1 Health Risk Conflicting classifications of pathogenicity Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
RS1416709395 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS1416709406 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1416710271 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS141671123 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS141672122 LZTR1 Health Risk Likely pathogenic Noonan syndrome 2, Hereditary cancer-predisposing syndrome
RS141672841 USH2A Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Usher syndrome type 2A
RS141673997 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1416744060 MYO7A Health Risk Pathogenic/Likely pathogenic Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS141674976 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS141675065 TJP2 Health Risk Conflicting classifications of pathogenicity —
RS1416760785 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1416766008 WDR35 Health Risk Pathogenic Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS141677867 ABCB4 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Low phospholipid associated cholelithiasis
RS1416783446 CHST3 Health Risk Pathogenic Spondyloepiphyseal dysplasia with congenital joint dislocations, Spondyloepiphyseal dysplasia with congenital joint dislocations
RS141678357 GDAP2 Health Risk Likely pathogenic —
RS141678367 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS1416794391 RPGRIP1 Health Risk Likely pathogenic Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS141679490 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS141679530 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS141679570 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS141680585 EPB41 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 1, Elliptocytosis 1
RS141680853 VCAN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, VCAN-related disorder
RS141681122 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS141681167 LDLR Health Risk Pathogenic/Likely pathogenic Familial hypercholesterolemia, Hypercholesterolemia
RS141681466 CARD11 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to CARD11 deficiency, BENTA disease
RS141682398 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, TMPRSS3-related disorder
RS1416828643 TNXB Health Risk Likely pathogenic Ehlers-Danlos syndrome due to tenascin-X deficiency, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS141683210 SPTBN2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14, Spinocerebellar ataxia type 5
RS141683305 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141683652 SLC12A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bartter disease type 1
RS141683908 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, BBS2-related disorder
RS1416843620 NDUFV1 Health Risk Pathogenic —
RS141684908 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS1416855722 ITGA3 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 7
RS141685583 PKD1L1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, PKD1L1-related disorder
RS141685768 RFWD3 Health Risk Conflicting classifications of pathogenicity —
RS141686050 CGNL1 Health Risk Conflicting classifications of pathogenicity —
RS141686175 SCN11A Health Risk Conflicting classifications of pathogenicity Familial episodic pain syndrome with predominantly lower limb involvement, Hereditary sensory and autonomic neuropathy type 7
RS141686776 RP1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS141686828 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS1416873295 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS141687561 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS141687678 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS141688757 USH1G Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1G, Usher syndrome type 1G
RS1416889105 GRM1 Health Risk Conflicting classifications of pathogenicity —
RS141689561 SLC17A8 Health Risk Conflicting classifications of pathogenicity SLC17A8-related disorder, SLC17A8-related disorder
RS141689968 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS141690214 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS141690729 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
« Prev 1 ... 531 532 533 534 535 536 537 ... 4509 Next »

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

Get Started Free →