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
RS746493490 SLC16A2 Health Risk Likely pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS746493706 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS746496916 TREM2 Health Risk Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
RS746497338 TCIRG1 Health Risk Pathogenic —
RS746499102 SLC25A12 Health Risk Conflicting classifications of pathogenicity —
RS746499337 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS746499570 C5 Health Risk Likely pathogenic —
RS746499646 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS746500019 DRAM2 Health Risk Likely pathogenic Cone-rod dystrophy 21, Cone-rod dystrophy 21
RS746500238 FLNB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746500530 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS746501220 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS746501563 ADSL Health Risk Pathogenic Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS746501731 CDHR1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Cone-rod dystrophy 15
RS746502408 RTTN Health Risk Pathogenic —
RS746503581 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS746504075 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS746505361 ARIH1 Health Risk association Aortic aneurysm, Aortic aneurysm
RS746506432 FBLN5 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS746506506 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS746507078 GALC Health Risk Pathogenic/Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS746507528 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS746508651 GPR179 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746509804 KCNJ1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS746511029 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS746511283 ASNS Health Risk Likely pathogenic —
RS74651202 SLC2A9 Health Risk Conflicting classifications of pathogenicity Hypouricemia, renal
RS746513362 RDH12 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 13, Retinitis pigmentosa
RS746513550 MMADHC Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Methylmalonic aciduria and homocystinuria type cblD
RS746513660 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS746514008 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS746514019 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS746514288 FANCA Health Risk Likely pathogenic Fanconi anemia, Gastric cancer
RS746514747 TTN Health Risk Conflicting classifications of pathogenicity —
RS746515147 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS746516356 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS746517026 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS746517083 STIM1 Health Risk Conflicting classifications of pathogenicity Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency
RS746518509 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS746519257 ECHS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, See cases
RS746519259 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS746520319 SCN8A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS746521110 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS746521429 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS746522150 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS746523071 CLRN1 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 3, Retinal dystrophy
RS746523125 TRIO Health Risk Conflicting classifications of pathogenicity —
RS746523421 POMT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS746523921 EDA Health Risk Conflicting classifications of pathogenicity Hypohidrotic X-linked ectodermal dysplasia, Inborn genetic diseases
RS746525428 TNXB Health Risk Pathogenic —
RS746525639 SETX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia
RS746526239 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS746527135 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS746530389 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS746531116 FOXE3 Health Risk Conflicting classifications of pathogenicity Congenital primary aphakia, Anterior segment dysgenesis
RS746531354 KARS1 Health Risk Conflicting classifications of pathogenicity —
RS746532062 SLC4A11 Health Risk Pathogenic/Likely pathogenic Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea
RS746532292 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS746532720 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS74653330 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, OCA2-related disorder
RS746533703 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS746533953 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS746534141 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS746535031 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, ANKRD26-related disorder
RS746536339 BRWD3 Health Risk Likely pathogenic Intellectual disability, X-linked 93
RS746536721 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS746536941 CACNA1G Health Risk Conflicting classifications of pathogenicity CACNA1G-related disorder, Inborn genetic diseases
RS746537400 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS746537493 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746538436 GFM2 Health Risk Pathogenic Mitochondrial disease, Combined oxidative phosphorylation deficiency 39
RS746538672 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related myopathy
RS746541034 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS746541266 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2
RS746541677 CEACAM16 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746542615 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS746542712 FLNC Health Risk Conflicting classifications of pathogenicity Distal myopathy with posterior leg and anterior hand involvement, Hypertrophic cardiomyopathy 26
RS746543001 DYNC1H1 Health Risk Conflicting classifications of pathogenicity See cases, Charcot-Marie-Tooth disease axonal type 2O
RS746544641 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS746546834 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS746547282 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS746548465 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS746549330 CNGB3 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Achromatopsia
RS746550765 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Inborn genetic diseases
RS746550786 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Familial episodic pain syndrome with predominantly lower limb involvement
RS746551074 GBA2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS746551311 USH2A Health Risk Pathogenic Retinitis pigmentosa, Usher syndrome type 2A
RS746551717 RASA1 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation syndrome, Cardiovascular phenotype
RS746552269 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Inborn genetic diseases
RS746552340 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS746552548 PDE6B Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS746552692 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS746555296 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS746555297 CYP7B1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS746556715 MMUT Health Risk Pathogenic Methylmalonic acidemia, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS746557446 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS746558975 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS746559651 DRAM2 Health Risk Pathogenic Retinal dystrophy, Cone-rod dystrophy 21
RS746560886 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS746562608 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS746562872 LSS Health Risk Pathogenic Alopecia-intellectual disability syndrome 4, Alopecia-intellectual disability syndrome 4
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