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
RS200581517 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, CNGB1-related disorder
RS200581574 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, DNAH11-related disorder
RS200581623 GPAA1 Health Risk Conflicting classifications of pathogenicity Glycosylphosphatidylinositol biosynthesis defect 15, Glycosylphosphatidylinositol biosynthesis defect 15
RS200581777 IFNL2 Health Risk Likely risk allele Susceptibility to severe COVID-19, Susceptibility to severe COVID-19
RS200581817 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS200581968 CYP4F22 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS200582060 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS200582465 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS200582844 ACKR3 Health Risk Pathogenic Oculomotor-abducens synkinesis, Oculomotor-abducens synkinesis
RS200582951 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, ATP1A3-related disorder
RS200583193 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS200583558 SALL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200583587 WNT5A Health Risk Conflicting classifications of pathogenicity —
RS200583769 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS200583827 MTO1 Health Risk Pathogenic/Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS200583904 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS200583958 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS200584135 DNA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200584416 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS200584463 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS200584793 ECHS1 Health Risk Pathogenic/Likely pathogenic Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS200584854 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Inborn genetic diseases
RS200584878 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS200585150 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Hereditary fructosuria
RS200585270 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS200585528 COL6A2 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS200585609 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200585833 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS200586078 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 2, von Willebrand disease type 1
RS200586324 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS200586401 GUCY2D Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS200586605 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease axonal type 2N
RS200586695 PKP2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy
RS200586877 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Alstrom syndrome
RS200586885 ITGA7 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to integrin alpha-7 deficiency, Congenital muscular dystrophy due to integrin alpha-7 deficiency
RS200587372 MTOR Health Risk Conflicting classifications of pathogenicity —
RS200587502 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200587641 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS200587951 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS200587974 CEP290 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 6, Bardet-Biedl syndrome 14
RS200587998 TTN Health Risk Conflicting classifications of pathogenicity —
RS200588235 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS200588338 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS200588702 NAF1 Health Risk Conflicting classifications of pathogenicity —
RS200588941 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS200589374 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS200589588 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS200590080 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS200590188 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS200590728 HNF1B Health Risk Conflicting classifications of pathogenicity Renal cysts and diabetes syndrome, Maturity-onset diabetes of the young
RS200591010 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome
RS200591335 NRAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, NRAP-related disorder
RS200591364 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS200591471 MFSD8 Health Risk Conflicting classifications of pathogenicity Macular dystrophy with central cone involvement, Neuronal ceroid lipofuscinosis 7
RS200591493 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS200591614 PUS1 Health Risk Conflicting classifications of pathogenicity Myopathy, lactic acidosis
RS200592030 NFS1 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation deficiency 52, Combined oxidative phosphorylation deficiency 52
RS200592310 PDZD7 Health Risk Conflicting classifications of pathogenicity PDZD7-related disorder, PDZD7-related disorder
RS200592320 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS200592625 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS200592647 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS200592712 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS200592893 DUOX2 Health Risk Pathogenic/Likely pathogenic Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS200592992 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS200593368 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS200593413 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS200593598 BICC1 Health Risk Conflicting classifications of pathogenicity Renal dysplasia, cystic
RS200593940 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS200593954 PMM2 Health Risk Conflicting classifications of pathogenicity PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS200593979 F11 Health Risk Conflicting classifications of pathogenicity Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS200593980 WNK4 Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism type 2B, Pseudohypoaldosteronism type 2B
RS200594167 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS200594402 VPS53 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 2E, Pontocerebellar hypoplasia type 2E
RS200594798 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS200594881 NDP Health Risk Pathogenic Atrophia bulborum hereditaria, Atrophia bulborum hereditaria
RS200594912 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS200595164 LRSAM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2P, Inborn genetic diseases
RS200595201 MYO16 Health Risk Conflicting classifications of pathogenicity MYO16-related disorder, MYO16-related disorder
RS200595273 NHLRC1 Health Risk Conflicting classifications of pathogenicity Lafora disease, Inborn genetic diseases
RS200595348 DUOX2 Health Risk Conflicting classifications of pathogenicity —
RS200595389 HNRNPDL Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
RS200595566 NTRK2 Health Risk Conflicting classifications of pathogenicity NTRK2-related disorder, NTRK2-related disorder
RS200595614 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, See cases
RS200595795 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS200595851 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, ABCC2-related disorder
RS200596121 SH3KBP1 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS200596482 GINS1 Health Risk Conflicting classifications of pathogenicity —
RS200596739 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS200596762 MMUT Health Risk Pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic acidemia
RS200597118 SLC5A5 Health Risk Likely pathogenic Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS200597654 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS200598034 PDK3 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked dominant 6, Charcot-Marie-Tooth disease X-linked dominant 6
RS200598077 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS200598087 NHS Health Risk Conflicting classifications of pathogenicity Nance-Horan syndrome, Inborn genetic diseases
RS200598254 TNRC6B Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Inborn genetic diseases
RS200598389 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS200598421 MCM4 Health Risk Conflicting classifications of pathogenicity Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency, Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
RS200598509 TTN Health Risk Conflicting classifications of pathogenicity —
RS200598748 SPEG Health Risk Conflicting classifications of pathogenicity SPEG-related disorder, Myopathy
RS200598755 PGAP3 Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
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