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
RS200394184 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, Familial juvenile hyperuricemic nephropathy type 1
RS200394848 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Inborn genetic diseases
RS200394946 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS200395062 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Cardiovascular phenotype
RS200395169 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS200395305 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200395340 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS200395927 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS200395970 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Retinitis pigmentosa
RS200396166 SQSTM1 Health Risk Conflicting classifications of pathogenicity Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
RS200396386 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS200396611 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS200396868 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS200396882 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Hepatoblastoma
RS200397144 SDHA Health Risk Pathogenic/Likely pathogenic Pheochromocytoma/paraganglioma syndrome 5, Hereditary cancer-predisposing syndrome
RS200397416 NDUFS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 5
RS200397530 GJB3 Health Risk Conflicting classifications of pathogenicity Erythrokeratodermia variabilis et progressiva 1, Erythrokeratodermia variabilis et progressiva 1
RS200397785 CRTAP Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS200398000 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Seizure
RS200398117 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS200398387 NUP62 Health Risk Conflicting classifications of pathogenicity —
RS200398581 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS200398705 ANKLE2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200398750 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS200399045 SNF8 Health Risk Conflicting classifications of pathogenicity SNF8-associated disease, Neurodevelopmental disorder plus optic atrophy
RS200399120 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS200399245 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS200399286 NOVA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
RS200399748 CR1 Health Risk Conflicting classifications of pathogenicity —
RS200399787 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS200400235 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS200400333 SHANK3 Health Risk Likely pathogenic Phelan-McDermid syndrome, Phelan-McDermid syndrome
RS200400376 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, EGF-related disorder
RS200401166 AIPL1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 4, Retinitis pigmentosa
RS200401359 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS200401432 NUBPL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Mitochondrial complex I deficiency
RS200401846 SLC5A1 Health Risk Pathogenic Congenital glucose-galactose malabsorption, SLC5A1-related disorder
RS200401940 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS200402056 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS200402328 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, ITGA7-related disorder
RS200402559 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS200402620 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, L1CAM-related disorder
RS200402760 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS200402956 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS200403014 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Inborn genetic diseases
RS200403160 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS200403345 ALPI Health Risk Likely pathogenic —
RS200403369 KCNE2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 6, Cardiovascular phenotype
RS200403976 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Floating-Harbor syndrome
RS200404654 SARS2 Health Risk Conflicting classifications of pathogenicity SARS2-associated condition, Hyperuricemia
RS200404774 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, Achromatopsia 2
RS200404888 TMPRSS5 Health Risk Conflicting classifications of pathogenicity —
RS200405052 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS200405157 TAFAZZIN Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2, Cardiovascular phenotype
RS200406127 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS200406381 ADAMTS13 Health Risk Conflicting classifications of pathogenicity ADAMTS13-related disorder, Upshaw-Schulman syndrome
RS200406572 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS200406864 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS200406978 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS200407669 CDC6 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 5, Meier-Gorlin syndrome 5
RS200407856 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS200407907 PGM1 Health Risk Conflicting classifications of pathogenicity PGM1-congenital disorder of glycosylation, PGM1-related disorder
RS200408018 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS200408101 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS200408257 MCM9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200408568 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS200408941 DOCK6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200408982 B3GLCT Health Risk Pathogenic Peters plus syndrome, Peters plus syndrome
RS200409122 CAVIN1 Health Risk Conflicting classifications of pathogenicity Congenital generalized lipodystrophy type 4, CAVIN1-related disorder
RS200409162 LRP5 Health Risk Conflicting classifications of pathogenicity 8 conditions, Inborn genetic diseases
RS200409290 RELN Health Risk Conflicting classifications of pathogenicity Familial temporal lobe epilepsy 7, Norman-Roberts syndrome
RS200409307 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 14, CCDC39-related disorder
RS200409575 CXCR2 Health Risk Pathogenic —
RS200409817 GNAS Health Risk Conflicting classifications of pathogenicity GNAS-related disorder, GNAS-related disorder
RS200409979 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypoalphalipoproteinemia, primary
RS200410163 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Inborn genetic diseases
RS200410212 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Early-onset myopathy with fatal cardiomyopathy
RS200410468 KIF11 Health Risk Conflicting classifications of pathogenicity Microcephaly with or without chorioretinopathy, lymphedema
RS200410805 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS200411081 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS200411099 GNB4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate F, Inborn genetic diseases
RS200411226 MYBPC3 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS200411401 PLEC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200411484 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS200411544 DNAI1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Kartagener syndrome
RS200411817 TRIM37 Health Risk Conflicting classifications of pathogenicity Mulibrey nanism syndrome, Mulibrey nanism syndrome
RS200412221 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS200412314 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS200412464 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS200412482 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200412525 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS200412717 BMP1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 13, Osteogenesis imperfecta type 13
RS200412833 HERC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200412910 HGD Health Risk Conflicting classifications of pathogenicity Alkaptonuria, Alkaptonuria
RS200413215 DNAH7 Health Risk Conflicting classifications of pathogenicity —
RS200413503 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS200413924 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Inborn genetic diseases
RS200414214 CNTN4 Health Risk Conflicting classifications of pathogenicity —
RS200414298 PEX16 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 8A (Zellweger), Peroxisome biogenesis disorder
RS200414835 SDHB Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 4, Pheochromocytoma
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