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
RS140690090 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS1406906239 SOS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Noonan syndrome 4
RS1406911104 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS140691492 LHCGR Health Risk Conflicting classifications of pathogenicity Leydig cell agenesis, Gonadotropin-independent familial sexual precocity
RS1406920400 HMGCS2 Health Risk Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS140692271 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS1406924877 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1406934577 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS140693511 WAC Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1406937547 SLC26A4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS140693978 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Oculofaciocardiodental syndrome
RS140694303 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS140694378 THAP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Torsion dystonia 6
RS1406947861 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS1406949705 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1406951209 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS140695242 MYLK2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy 1
RS140695299 POGLUT1 Health Risk Conflicting classifications of pathogenicity —
RS1406955615 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS140696201 OSGEP Health Risk Likely pathogenic Galloway-Mowat syndrome 3, Galloway-Mowat syndrome 3
RS1406962229 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS140696334 MBD4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140697341 TDRD7 Health Risk Conflicting classifications of pathogenicity Cataract 36, TDRD7-related disorder
RS1406976795 CFAP74 Health Risk Pathogenic Ciliary dyskinesia, primary
RS140698625 TTC8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 8
RS140698674 SPECC1L Health Risk Conflicting classifications of pathogenicity Craniosynostosis syndrome, Craniosynostosis syndrome
RS1406988642 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 15, Spastic paraplegia
RS1406991265 PGAP1 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 42
RS140699312 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140699573 CHST6 Health Risk Conflicting classifications of pathogenicity Macular corneal dystrophy, Macular corneal dystrophy
RS140699721 AP4B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 47, Hereditary spastic paraplegia 47
RS140700430 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1407007311 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1407009840 GRIN2B Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 6
RS140702204 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1407028917 OTOG Health Risk Conflicting classifications of pathogenicity Rare genetic deafness, Rare genetic deafness
RS1407033442 MYO15A Health Risk Likely pathogenic —
RS1407044026 LOX Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1407045774 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group N
RS1407053984 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS140705634 MARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 25, Spastic ataxia 3
RS1407067985 BRAT1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS140707092 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS140707454 ATP1A2 Health Risk Pathogenic —
RS140708492 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS140709222 TNPO3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1F, Autosomal dominant limb-girdle muscular dystrophy type 1F
RS1407093112 HMBS Health Risk Pathogenic/Likely pathogenic —
RS1407096340 MECR Health Risk Pathogenic —
RS140709787 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, VPS13B-related disorder
RS140709833 CLTCL1 Health Risk Conflicting classifications of pathogenicity Clear cell carcinoma of kidney, Familial cancer of breast
RS140709867 COASY Health Risk Pathogenic Neurodegeneration with brain iron accumulation 6, Neurodegeneration with brain iron accumulation
RS140710321 DDR2 Health Risk Pathogenic Inborn genetic diseases, DDR2-related disorder
RS140710429 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS140710522 C1QTNF5;MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Late-onset retinal degeneration
RS1407106889 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS140711456 DCC Health Risk Conflicting classifications of pathogenicity —
RS1407133452 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
RS1407136283 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS140713866 PDP1 Health Risk Conflicting classifications of pathogenicity —
RS140714512 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myopathy
RS140714949 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS1407149518 GBE1 Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type IV
RS140715869 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia
RS1407160641 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS140716236 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Regional enteritis
RS140716525 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS1407167491 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1407167849 TGFBR1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS140716870 PRKG1 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 8
RS1407174563 OCA2 Health Risk Pathogenic —
RS140717688 P2RX2 Health Risk Conflicting classifications of pathogenicity —
RS140717709 SETBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 29
RS1407178236 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Intellectual disability
RS140718120 MYH7 Health Risk Conflicting classifications of pathogenicity MYH7-related skeletal myopathy, Hypertrophic cardiomyopathy 1
RS140719298 LTBP2 Health Risk Conflicting classifications of pathogenicity Glaucoma 3, primary congenital
RS140719424 MED17 Health Risk Pathogenic —
RS140719848 TTC19 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 2, Inborn genetic diseases
RS1407198979 FARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 14, Combined oxidative phosphorylation defect type 14
RS140720448 LAMB3 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS140721259 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Inborn genetic diseases
RS140721388 COL6A5 Health Risk Conflicting classifications of pathogenicity —
RS140721400 MEOX1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1407226293 TSPAN12 Health Risk Pathogenic Exudative vitreoretinopathy 5, Exudative vitreoretinopathy 5
RS140722848 LMBR1 Health Risk Conflicting classifications of pathogenicity Polydactyly of a triphalangeal thumb, Syndactyly type 4
RS140723233 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1407233374 ADGRG1 Health Risk Pathogenic —
RS140723547 FLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140724142 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS1407242364 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1407243713 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS1407245521 AMN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1407246264 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS1407250103 STK33 Health Risk Pathogenic Spermatogenic failure 93, Spermatogenic failure 93
RS140725151 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS1407251815 DCLRE1C Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Histiocytic medullary reticulosis
RS1407260029 COL6A2 Health Risk Likely pathogenic —
RS140726254 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases
RS140727018 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS140728650 SLC16A1 Health Risk Conflicting classifications of pathogenicity SLC16A1-related disorder, Inborn genetic diseases
RS140728783 PMVK Health Risk Likely pathogenic Linear porokeratosis, Linear porokeratosis
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