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
RS140294059 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS140294222 G6PC3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency, Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
RS1402948915 ACBD5 Health Risk Pathogenic —
RS1402952523 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1402953071 ZMPSTE24 Health Risk Pathogenic/Likely pathogenic —
RS140296036 PYGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type VI
RS140296295 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS140296609 RBM10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1402966846 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1402967241 CLCN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140296831 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS1402968787 DVL3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, DVL3-related disorder
RS140298514 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
RS140299014 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS1402990329 WNT10A Health Risk Conflicting classifications of pathogenicity Tooth agenesis, selective
RS140299648 SLC26A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypersulfaturia
RS140299861 AMER1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1402999203 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS140300282 RNF213 Health Risk Conflicting classifications of pathogenicity —
RS1403009542 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS140301218 MYO3A Health Risk Conflicting classifications of pathogenicity —
RS140303247 SLC16A2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1403034076 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1403034524 PRRT2 Health Risk Pathogenic Episodic kinesigenic dyskinesia 1, Episodic kinesigenic dyskinesia 1
RS1403042622 MME Health Risk Likely pathogenic —
RS140304758 TNXB Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS140304897 SARS2 Health Risk Conflicting classifications of pathogenicity Hyperuricemia, pulmonary hypertension
RS1403055370 CTDP1 Health Risk Conflicting classifications of pathogenicity —
RS140305765 CDC20 Health Risk Pathogenic Oocyte maturation defect 14, Oocyte maturation defect 14
RS140306279 FAM111A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140306846 ALOX12B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140306974 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS1403076049 PROS1 Health Risk Pathogenic Thrombophilia due to protein S deficiency, autosomal recessive
RS140307657 CFAP44 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140307681 DGUOK Health Risk Pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Portal hypertension
RS140307699 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS140308322 ALDH6A1 Health Risk Conflicting classifications of pathogenicity Methylmalonate semialdehyde dehydrogenase deficiency, Methylmalonate semialdehyde dehydrogenase deficiency
RS140308808 WDR35 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 2, Short-rib thoracic dysplasia 7 with or without polydactyly
RS140308982 VCL Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1W, Cardiovascular phenotype
RS140309338 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS1403101337 NHLRC1 Health Risk Likely pathogenic Lafora disease, Lafora disease
RS1403112959 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS140311741 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, NOTCH2-related disorder
RS1403123573 DPAGT1 Health Risk Likely pathogenic Congenital myasthenic syndrome 13, Congenital myasthenic syndrome 13
RS140312372 CLCN5 Health Risk Conflicting classifications of pathogenicity Dent disease type 1, Dent disease type 1
RS1403125636 PLA2G6 Health Risk Pathogenic Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14
RS1403129366 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS140313460 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Connective tissue disorder
RS1403136669 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1403144024 ALPK3 Health Risk Likely pathogenic Cardiomyopathy, familial hypertrophic 27
RS140315493 FMN2 Health Risk Conflicting classifications of pathogenicity —
RS1403155983 ALX4 Health Risk Likely pathogenic See cases, See cases
RS140315637 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1403162016 HEXA Health Risk Likely pathogenic Tay-Sachs disease, Tay-Sachs disease
RS140316223 HELLS Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 4, Immunodeficiency-centromeric instability-facial anomalies syndrome 4
RS1403165900 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS140316904 KITLG Health Risk Conflicting classifications of pathogenicity —
RS140317309 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140317484 SLC3A1 Health Risk Conflicting classifications of pathogenicity Cystinuria, Cystinuria
RS140317494 GATA5 Health Risk Conflicting classifications of pathogenicity Congenital heart defects, multiple types
RS140317560 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS140317692 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140318156 FOCAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140318342 FLNB Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS1403186964 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS140319056 CLN6 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS140319117 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS140319442 EGF Health Risk Conflicting classifications of pathogenicity Renal hypomagnesemia 4, Renal hypomagnesemia 4
RS140319509 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1403211358 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Brugada syndrome 1
RS140321570 SETBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140322336 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, TPO-related disorder
RS140322345 ILK Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, ILK-related disorder
RS140322984 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease type 1A
RS1403231932 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS140323384 TTC21B Health Risk Conflicting classifications of pathogenicity Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS1403242422 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS140324769 BMP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, BMP1-related disorder
RS140325029 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140326154 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 9, Primary ciliary dyskinesia
RS140326236 LHFPL5 Health Risk Conflicting classifications of pathogenicity LHFPL5-related disorder, LHFPL5-related disorder
RS140327327 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS140328142 ACSF3 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS140328152 FERMT3 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 3, Inborn genetic diseases
RS1403288739 MYO7A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 2, Usher syndrome type 1
RS140329381 GLA;RPL36A-HNRNPH2 Health Risk Conflicting classifications of pathogenicity Fabry disease, Migalastat response
RS1403296082 APOA5 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1403300887 DDX59 Health Risk Pathogenic —
RS140330283 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS140330831 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS140331348 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS140331410 PACS2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 66
RS140331414 POLH Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum variant type, Xeroderma pigmentosum
RS1403318277 BRCA2 Health Risk Conflicting classifications of pathogenicity 8 conditions, Hereditary cancer-predisposing syndrome
RS140332077 PEX5 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS1403323591 PKLR Health Risk Conflicting classifications of pathogenicity PKLR-related disorder, PKLR-related disorder
RS140332366 GJA3 Health Risk Likely pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS140332932 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-related disorder, FLNB-related disorder
RS140334403 CDAN1 Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type I
RS140334418 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
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