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
RS774835995 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS774837301 TULP1 Health Risk Pathogenic —
RS774840535 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS774841964 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS774842422 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS774843232 PGAP2 Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 3, Cerebellar ataxia
RS774843953 CLCN1 Health Risk Conflicting classifications of pathogenicity Batten-Turner congenital myopathy, Congenital myotonia
RS774843956 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS774843962 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Inborn genetic diseases
RS774844173 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, ATP7B-related disorder
RS774844255 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774844858 GRXCR1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 25, GRXCR1-related disorder
RS774845820 ABCB11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774845879 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774846173 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ZNF469-related disorder
RS774846394 AHCY Health Risk Conflicting classifications of pathogenicity Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS774846977 FUCA1 Health Risk Pathogenic/Likely pathogenic Fucosidosis, Fucosidosis
RS774847203 APC Health Risk Pathogenic/Likely pathogenic Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
RS774847322 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS774848857 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS774849278 GNE Health Risk Conflicting classifications of pathogenicity Sialuria, GNE myopathy
RS774849517 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS774849547 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS774849802 EARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774855011 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS774855042 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS774855826 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS774855939 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS774856588 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS774856700 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Collagen IV-related nephropathies
RS774857795 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiomyopathy
RS774857947 PCDH15 Health Risk Conflicting classifications of pathogenicity —
RS77486019 GYS2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS774861939 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, Tyrosinemia type I
RS774862156 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hemochromatosis type 3
RS774862180 FLNB Health Risk Conflicting classifications of pathogenicity Larsen syndrome, Inborn genetic diseases
RS774862312 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS774863156 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS774864012 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS774864487 TRAP1 Health Risk Conflicting classifications of pathogenicity TRAP1-related disorder, TRAP1-related disorder
RS774865421 SLC44A4 Health Risk Conflicting classifications of pathogenicity Hearing loss, autosomal dominant 72
RS774865494 RHO Health Risk Pathogenic —
RS774865768 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TNXB-related disorder
RS774866016 KANK1 Health Risk Conflicting classifications of pathogenicity —
RS774866097 FMO3 Health Risk Likely pathogenic —
RS774866184 SCN2B Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS774867268 DDX11 Health Risk Likely pathogenic Warsaw breakage syndrome, Warsaw breakage syndrome
RS774867371 TECTA Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774867424 GNE Health Risk Likely pathogenic Thrombocytopenia, Thrombocytopenia
RS774867496 JAM3 Health Risk Pathogenic Porencephaly-microcephaly-bilateral congenital cataract syndrome, Porencephaly-microcephaly-bilateral congenital cataract syndrome
RS774867522 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS774867891 ZFYVE26 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 15
RS774868460 PCLO Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774869075 IMPG1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Benign concentric annular macular dystrophy
RS774870834 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS774870859 ALPL Health Risk Likely pathogenic —
RS774871506 CRB2 Health Risk Pathogenic —
RS774872512 FRAS1 Health Risk Pathogenic/Likely pathogenic —
RS774872934 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A3-related disorder
RS774875437 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Inborn genetic diseases
RS774875481 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS774875526 TUBGCP4 Health Risk Likely pathogenic —
RS774876028 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS774876336 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS774877872 VRK1 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 1A, Neuronopathy
RS774878438 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS774879831 MSRB3 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 74, Autosomal recessive nonsyndromic hearing loss 74
RS774880085 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Inborn genetic diseases
RS774881136 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS774882851 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS774883556 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS774884290 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS774885355 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS774885519 SLC12A2 Health Risk Conflicting classifications of pathogenicity Kilquist syndrome, Inborn genetic diseases
RS774886148 LDB3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 4
RS774887154 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS774887446 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, Inborn genetic diseases
RS774888496 NOD2 Health Risk Conflicting classifications of pathogenicity Regional enteritis, Blau syndrome
RS774888783 IFIH1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 7, Aicardi-Goutieres syndrome 7
RS774889610 NRXN1 Health Risk Pathogenic Autism spectrum disorder, Pitt-Hopkins-like syndrome 2
RS774889687 TTLL5 Health Risk Pathogenic Cone-rod dystrophy 19, Cone-rod dystrophy 19
RS774890086 ELP1 Health Risk Pathogenic/Likely pathogenic Familial dysautonomia, Medulloblastoma
RS774890570 COL7A1 Health Risk Pathogenic/Likely pathogenic Transient bullous dermolysis of the newborn, Recessive dystrophic epidermolysis bullosa
RS774891673 FASTKD2 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 44, FASTKD2-related disorder
RS774892063 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinal dystrophy
RS774893568 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS774893767 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS774895225 STX11 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS774895427 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS774895745 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS774895847 GNAS Health Risk Pathogenic Pseudohypoparathyroidism type I A, Pseudohypoparathyroidism type I A
RS774896703 VCAN Health Risk Conflicting classifications of pathogenicity Wagner disease, Vitreoretinopathy
RS774896870 RPE65 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 2
RS774896913 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS774897097 TGM5 Health Risk Likely pathogenic —
RS77489713 NPAP1 Health Risk Conflicting classifications of pathogenicity —
RS774897141 WASHC5 Health Risk Conflicting classifications of pathogenicity Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8
RS774900511 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS774900756 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS774901107 NDUFAF3 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
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