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
RS199543136 ATRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Alpha thalassemia-X-linked intellectual disability syndrome
RS199543257 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS199543313 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS199543483 NDUFV1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS199543540 NDUFAF5 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS199543859 HNRNPDL Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
RS199543866 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS199544087 FGFR3 Health Risk Conflicting classifications of pathogenicity FGFR3-related disorder, FGFR3-related disorder
RS199544294 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS199544410 EDAR Health Risk Pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type
RS199544459 DCHS1 Health Risk Conflicting classifications of pathogenicity —
RS199544775 EPRS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199545019 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS199545653 ALOX12B Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 2, Ichthyosis and erythrokeratoderma
RS199546190 WDR19 Health Risk Conflicting classifications of pathogenicity Senior-Loken syndrome 8, Asphyxiating thoracic dystrophy 5
RS199546324 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Inborn genetic diseases
RS199546417 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199546516 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS199546979 NRXN1 Health Risk Conflicting classifications of pathogenicity Obesity, Pitt-Hopkins-like syndrome 2
RS199547255 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS199547344 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS199547652 CHRNA3 Health Risk Pathogenic Urinary bladder, atony of
RS199547661 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS199547699 GLRA1 Health Risk Pathogenic/Likely pathogenic Hyperekplexia 1, Hereditary hyperekplexia
RS199547711 GLUD2 Health Risk Conflicting classifications of pathogenicity —
RS199548487 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS199548781 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS199548845 ABCA13 Health Risk Conflicting classifications of pathogenicity —
RS199548932 SERPINH1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 10, Osteogenesis imperfecta type 10
RS199549095 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS199549354 PTPN23 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity
RS199549545 FRA10AC1 Health Risk Pathogenic Neurodevelopmental disorder with growth retardation, dysmorphic facies
RS199549660 ANK2 Health Risk Conflicting classifications of pathogenicity Supraventricular tachycardia, Long QT syndrome
RS199550149 SCN9A Health Risk Conflicting classifications of pathogenicity Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS199550426 TRPA1 Health Risk Conflicting classifications of pathogenicity —
RS199550738 CBS Health Risk Conflicting classifications of pathogenicity Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS199551865 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS199551935 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Inborn genetic diseases
RS199552160 SLC7A9 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS199552223 PEX7 Health Risk Conflicting classifications of pathogenicity Rhizomelic chondrodysplasia punctata type 1, Peroxisome biogenesis disorder 9B
RS199552258 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2, Usher syndrome type 2
RS199552789 PEX14 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group K
RS199553519 SLC10A2 Health Risk Conflicting classifications of pathogenicity Bile acid malabsorption, primary
RS199553558 ALG1 Health Risk Pathogenic ALG1-congenital disorder of glycosylation, ALG1-congenital disorder of glycosylation
RS199553576 ABCG8 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Sitosterolemia 1
RS199553777 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS199554198 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS199554298 FBN3 Health Risk Conflicting classifications of pathogenicity —
RS199554805 FGA Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, Familial visceral amyloidosis
RS199554924 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS199555021 SERPINB7 Health Risk Pathogenic Palmoplantar keratoderma, Nagashima type
RS199555214 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS199555448 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS199555464 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS199555550 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to complete methylmalonyl-CoA mutase deficiency
RS199555636 TBCE Health Risk Conflicting classifications of pathogenicity Hypoparathyroidism-retardation-dysmorphism syndrome, Hypoparathyroidism-retardation-dysmorphism syndrome
RS199555702 CTSK Health Risk Likely pathogenic Pyknodysostosis, Pyknodysostosis
RS199555804 ELP1 Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Familial dysautonomia
RS199555921 ANGPTL3 Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 2, Familial hypobetalipoproteinemia 2
RS199556306 DIAPH3 Health Risk Conflicting classifications of pathogenicity —
RS199556426 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal macular dystrophy type 2, Cone-rod dystrophy 12
RS199557190 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS199557273 ATP2A1 Health Risk Conflicting classifications of pathogenicity Brody myopathy, Brody myopathy
RS199557318 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Intellectual disability
RS199557439 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS199557499 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS199557573 SEPTIN9 Health Risk Conflicting classifications of pathogenicity Amyotrophic neuralgia, Inborn genetic diseases
RS199557654 TTN Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Tibial muscular dystrophy
RS199557987 NRXN1 Health Risk Conflicting classifications of pathogenicity Pitt-Hopkins-like syndrome 2, Inborn genetic diseases
RS199558070 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS199558145 CUL9 Health Risk Conflicting classifications of pathogenicity —
RS199558186 SLC19A3 Health Risk Conflicting classifications of pathogenicity Biotin-responsive basal ganglia disease, Intellectual disability
RS199558375 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Tuberous sclerosis 2
RS199558386 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Pyropoikilocytosis
RS199558457 STIL Health Risk Conflicting classifications of pathogenicity Microcephaly 7, primary
RS199558534 ELANE Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Neutropenia
RS199558955 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 2, CNGA3-related disorder
RS199559023 TTC21B Health Risk Pathogenic Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS199559205 PRKAG2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 6, Wolff-Parkinson-White pattern
RS199559247 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Cone dystrophy 4
RS199559271 CAPN1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spastic paraplegia type 76, Gastric cancer
RS199559284 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS199559837 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS199560035 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Retinitis pigmentosa
RS199560359 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS199560470 PAX3 Health Risk Conflicting classifications of pathogenicity PAX3-related disorder, PAX3-related disorder
RS199560726 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS199560727 RIC1 Health Risk Conflicting classifications of pathogenicity —
RS199560824 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS199561187 SLC35D1 Health Risk Conflicting classifications of pathogenicity Schneckenbecken dysplasia, Inborn genetic diseases
RS199561218 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS199561320 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS199561332 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS199561793 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199562202 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS199562225 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS199562226 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS199562456 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum variant type
RS199562472 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Inborn genetic diseases
RS199562537 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
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