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
RS139003494 MAK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139004425 DDHD2 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 54, Hereditary spastic paraplegia
RS1390045914 TBC1D24 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 86, Developmental and epileptic encephalopathy
RS139004670 SUCLA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial DNA depletion syndrome
RS139004722 PIGL Health Risk Pathogenic CHIME syndrome, CHIME syndrome
RS1390048261 LZTR1 Health Risk Pathogenic Noonan syndrome 10, Hereditary cancer-predisposing syndrome
RS139004989 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS1390058794 GRM7 Health Risk Likely pathogenic Neurodevelopmental disorder with seizures, hypotonia
RS1390058931 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1390061303 HGD Health Risk Pathogenic Alkaptonuria, See cases
RS139006349 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS139006752 CARD10 Health Risk risk factor Primary open angle glaucoma, Lung cancer
RS139007578 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS139007661 ERCC6 Health Risk Conflicting classifications of pathogenicity 7 conditions, DE SANCTIS-CACCHIONE SYNDROME
RS139007744 WDR11 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 14 with or without anosmia, See cases
RS139008392 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS139008774 DNAAF11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 19, Respiratory ciliopathies including non-CF bronchiectasis
RS139010200 TTC7A Health Risk Conflicting classifications of pathogenicity Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS139010315 COQ6 Health Risk Conflicting classifications of pathogenicity COQ6-related disorder, COQ6-related disorder
RS1390117240 GABRG2 Health Risk Pathogenic/Likely pathogenic EPILEPSY, CHILDHOOD ABSENCE
RS139012426 ATP8B1 Health Risk Conflicting classifications of pathogenicity ATP8B1-related disorder, ATP8B1-related disorder
RS139012605 SCNN1G Health Risk Conflicting classifications of pathogenicity Liddle syndrome 2, Pseudohypoaldosteronism
RS1390127104 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS139012735 NDUFA9 Health Risk Conflicting classifications of pathogenicity Colon adenocarcinoma, Clear cell carcinoma of kidney
RS139013878 ANKH Health Risk Conflicting classifications of pathogenicity —
RS139014122 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS1390146619 ADA2 Health Risk Conflicting classifications of pathogenicity Deficiency of adenosine deaminase 2, Deficiency of adenosine deaminase 2
RS139014998 SLC10A3 Health Risk Conflicting classifications of pathogenicity —
RS139015012 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 10
RS139015168 TNNI3K Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139015694 CFAP43 Health Risk Conflicting classifications of pathogenicity Normal pressure hydrocephalus, Normal pressure hydrocephalus
RS139015738 TBCD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139016283 SETD2 Health Risk Conflicting classifications of pathogenicity Luscan-Lumish syndrome, Inborn genetic diseases
RS139016696 HNF1A Health Risk Conflicting classifications of pathogenicity 6 conditions, Diabetes mellitus type 1
RS1390174762 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS139018077 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS139018148 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS1390184629 PANK2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS139019255 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS139019562 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS139020143 SELENON Health Risk Conflicting classifications of pathogenicity SEPN1-related disorder, Eichsfeld type congenital muscular dystrophy
RS1390205269 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1390206641 ABCD4 Health Risk Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS139020690 FGFR3 Health Risk Conflicting classifications of pathogenicity FGFR3-related disorder, FGFR3-related disorder
RS1390215440 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS139021548 IFT172 Health Risk Pathogenic/Likely pathogenic Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS1390220758 F9 Health Risk Likely pathogenic Hereditary factor IX deficiency disease, Thrombophilia
RS1390223951 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS139022925 ANK3 Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonia-spasticity-sleep disorder syndrome, ANK3-related disorder
RS1390237532 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS139024279 AQP7 Health Risk Conflicting classifications of pathogenicity AQP7-related condition, AQP7-related condition
RS139024287 POLA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139024319 SLC26A1 Health Risk Conflicting classifications of pathogenicity Nephrolithiasis, calcium oxalate
RS139027208 HR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS139027297 KCNV2 Health Risk Pathogenic Cone dystrophy, Retinal dystrophy
RS139027440 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, Inborn genetic diseases
RS139029314 NHLRC1 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases
RS139030003 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS139030976 LTBP2 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Glaucoma 3
RS139031154 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS1390327836 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1390328608 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS139034513 TRAPPC11 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type R18, Autosomal recessive limb-girdle muscular dystrophy type R18
RS1390346184 LRP2 Health Risk Pathogenic —
RS1390351117 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS139035272 ALDH18A1 Health Risk Conflicting classifications of pathogenicity ALDH18A1-related de Barsy syndrome, Cutis laxa
RS139035462 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS139035971 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS139035999 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS139036160 BOC Health Risk Conflicting classifications of pathogenicity —
RS139037092 SLC5A1 Health Risk Conflicting classifications of pathogenicity Congenital glucose-galactose malabsorption, Inborn genetic diseases
RS139037316 ARFGEF2 Health Risk Conflicting classifications of pathogenicity Periventricular heterotopia with microcephaly, autosomal recessive
RS1390378010 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1390379576 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1390386790 PRMT7 Health Risk Likely pathogenic —
RS1390389867 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS139039122 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal recessive form
RS139039126 HPS5 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS139039608 MYH9 Health Risk Conflicting classifications of pathogenicity Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
RS139039658 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS139040374 KCNE3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome 6
RS1390410878 IL7R Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS139041112 MAN2B1 Health Risk Conflicting classifications of pathogenicity Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS1390412870 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS1390415306 PDHB Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS139041955 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease recessive intermediate C, Neuronopathy
RS1390420355 POLE Health Risk Pathogenic —
RS139042191 GFM1 Health Risk Conflicting classifications of pathogenicity —
RS139042529 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Short QT syndrome type 2
RS139042803 ABCB4 Health Risk Conflicting classifications of pathogenicity Cholestasis, intrahepatic
RS139042949 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS139043003 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS139043155 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1390439587 FGFR1 Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Osteoglophonic dysplasia
RS139044238 DMGDH Health Risk Conflicting classifications of pathogenicity Dimethylglycine dehydrogenase deficiency, Dimethylglycine dehydrogenase deficiency
RS139044304 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, FREM2-related disorder
RS1390451656 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Intrauterine growth retardation
RS1390452429 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS139045747 SLC6A1 Health Risk Pathogenic —
RS139046510 AKAP9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
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