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
RS1318388071 SH3TC2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1318391259 HCN1 Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 10
RS1318391499 ECHS1 Health Risk Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS1318391650 IFT172 Health Risk Pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS1318402758 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1318405179 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1318405523 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1318417167 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS1318419473 BCKDHA Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1318437795 HBA1 Health Risk Conflicting classifications of pathogenicity alpha Thalassemia, alpha Thalassemia
RS1318444606 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS1318446539 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1318456659 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1318489395 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1318520999 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1318535736 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1318536893 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS1318561721 ANO10 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS1318561870 SACS Health Risk Pathogenic/Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1318579197 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1318625944 MOCOS Health Risk Likely pathogenic Xanthinuria type II, Xanthinuria type II
RS1318630651 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS1318649487 KDM6A Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 2, Anemia
RS1318653026 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS1318655892 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1318659706 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS1318661642 DCHS1 Health Risk Likely pathogenic Van Maldergem syndrome 1, Van Maldergem syndrome 1
RS1318676764 SLC29A3 Health Risk Pathogenic H syndrome, H syndrome
RS1318678254 LCK Health Risk Pathogenic Severe combined immunodeficiency due to LCK deficiency, Severe combined immunodeficiency due to LCK deficiency
RS1318685186 PNPLA2 Health Risk Likely pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS1318711262 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1
RS1318726169 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 13
RS1318739667 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1318745309 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS1318750068 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1318756243 SLC2A2 Health Risk Pathogenic/Likely pathogenic Fanconi-Bickel syndrome, Type 2 diabetes mellitus
RS1318756445 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1318760213 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1318786246 LRP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1318795841 SLC12A1 Health Risk Pathogenic/Likely pathogenic Bartter disease type 1, Bartter disease type 1
RS1318813788 VPS13A Health Risk Likely pathogenic —
RS1318821563 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS1318827602 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Ovarian cancer
RS1318848388 KIF1A Health Risk Pathogenic Neuropathy, hereditary sensory
RS1318855105 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1318855120 CWC27 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1318869100 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1318871844 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1318885805 FLNC Health Risk Likely pathogenic Myofibrillar myopathy 5, Distal myopathy with posterior leg and anterior hand involvement
RS1318889911 GALNT12 Health Risk Conflicting classifications of pathogenicity —
RS1318903454 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, 11 conditions
RS1318905318 SLC26A4 Health Risk Likely pathogenic —
RS1318919210 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, DHCR7-related disorder
RS1318931629 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1318942147 TOR1AIP1 Health Risk Likely pathogenic TOR1AIP1-related disorder, TOR1AIP1-related disorder
RS1318951892 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS1318966106 SCN4A Health Risk Conflicting classifications of pathogenicity Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS1318967699 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1318972801 FKRP Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
RS1318979798 FERMT1 Health Risk Pathogenic —
RS1319006991 NAGS Health Risk Likely pathogenic Hyperammonemia, type III
RS1319009992 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1319022837 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, MHC class II deficiency
RS1319034578 SLC25A13 Health Risk Pathogenic Neonatal intrahepatic cholestasis due to citrin deficiency, Neonatal intrahepatic cholestasis due to citrin deficiency
RS1319034847 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1319046232 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1319049564 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1319053366 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1319065221 OPA1 Health Risk Pathogenic/Likely pathogenic —
RS1319085522 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1319094744 LRBA Health Risk Pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS1319106571 RTTN Health Risk Likely pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS1319111806 OTOG Health Risk Pathogenic/Likely pathogenic —
RS1319120469 RAPSN Health Risk Likely pathogenic Fetal akinesia deformation sequence 2, Fetal akinesia deformation sequence 2
RS1319123888 HEXB Health Risk Likely pathogenic Sandhoff disease, Sandhoff disease
RS1319152853 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS1319157667 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS1319188011 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1319192670 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1319200626 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS1319203200 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS1319211611 EVC2 Health Risk Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1319234983 FOXG1 Health Risk Conflicting classifications of pathogenicity FOXG1 disorder, FOXG1 disorder
RS1319256860 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1319281731 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1319282473 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1319283898 GBE1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type IV
RS1319295020 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1319321003 COL3A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1319329059 SLC2A2 Health Risk Pathogenic Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS1319341024 CPT1A Health Risk Pathogenic Carnitine palmitoyl transferase 1A deficiency, Carnitine palmitoyl transferase 1A deficiency
RS1319342312 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS1319345920 HSF2BP Health Risk Likely pathogenic Premature ovarian failure 19, Premature ovarian failure 19
RS1319347094 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS1319347237 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Melanoma-pancreatic cancer syndrome
RS1319364468 GCK Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS1319381076 PRRT2 Health Risk Conflicting classifications of pathogenicity Episodic kinesigenic dyskinesia, Inborn genetic diseases
RS1319389333 IFNGR2 Health Risk Pathogenic Immunodeficiency 28, Immunodeficiency 28
RS1319414797 NDUFA8 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 37
RS1319441126 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
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