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
RS118204113 HMBS Health Risk Likely pathogenic —
RS118204114 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204115 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204116 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204117 HMBS Health Risk Pathogenic Acute intermittent porphyria, Acute intermittent porphyria
RS118204119 HMBS Health Risk Pathogenic Encephalopathy, porphyria-related
RS118204120 HMBS Health Risk Pathogenic Acute intermittent porphyria, HMBS-related disorder
RS1182043656 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS118204425 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS118204426 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS118204428 ALDOB Health Risk Pathogenic/Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS118204429 ALDOB Health Risk Conflicting classifications of pathogenicity Hereditary fructosuria, Inborn genetic diseases
RS118204435 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS118204437 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS118204438 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS118204439 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS118204440 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS118204441 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS118204442 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS118204443 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS118204444 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS118204446 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS118204447 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS118204448 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS118204449 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS118204450 FUCA1 Health Risk Pathogenic Fucosidosis, Fucosidosis
RS118204451 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS118204452 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS118204453 NHEJ1 Health Risk Pathogenic Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
RS118204454 F12 Health Risk Pathogenic FACTOR XII (LOCARNO), FACTOR XII (LOCARNO)
RS118204456 F12 Health Risk Pathogenic Hereditary angioedema type 3, Hereditary angioneurotic edema
RS1182086058 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1182090591 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1182102272 SLC37A4 Health Risk Likely pathogenic Glucose-6-phosphate transport defect, Phosphate transport defect
RS1182103005 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1182112270 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS1182146385 SBF1 Health Risk Pathogenic —
RS1182148645 NFKB2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1182150046 SPTB Health Risk Pathogenic Hereditary spherocytosis type 2, Hereditary spherocytosis type 2
RS1182156737 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1182162593 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1182165362 MCOLN1 Health Risk Conflicting classifications of pathogenicity Mucolipidosis type IV, Mucolipidosis type IV
RS1182196436 DSG1 Health Risk Pathogenic/Likely pathogenic Palmoplantar keratoderma i, striate
RS1182199373 PCARE Health Risk Pathogenic —
RS1182199981 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS1182209513 SLC12A6 Health Risk Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS1182227611 TTN Health Risk Pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1182234844 UROD Health Risk Conflicting classifications of pathogenicity —
RS1182235762 TCIRG1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS1182240785 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1182262187 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS1182277140 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS1182278359 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1182279478 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1182283562 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1182285073 ETHE1 Health Risk Conflicting classifications of pathogenicity Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS1182312612 PNPLA1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 10, Congenital ichthyosiform erythroderma
RS1182317785 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1182325800 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1182326570 FBXL4 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 13, Inborn genetic diseases
RS1182330004 IFT80 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1182347499 OCA2 Health Risk Likely pathogenic —
RS1182353109 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS1182354883 MECP2 Health Risk Conflicting classifications of pathogenicity Severe neonatal-onset encephalopathy with microcephaly, Severe neonatal-onset encephalopathy with microcephaly
RS1182383020 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS1182383626 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1182409555 ADAMTS2 Health Risk Likely pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS1182409968 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1182423172 RTEL1 Health Risk Likely pathogenic —
RS1182434832 SEC24D Health Risk Pathogenic Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
RS1182444882 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1182447072 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1182448951 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiovascular phenotype
RS1182475940 SCNN1B Health Risk Likely pathogenic Pseudohypoaldosteronism, type IB1
RS1182488370 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1182502058 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 1
RS1182508823 TCIRG1 Health Risk Pathogenic —
RS1182521445 PIGB Health Risk Pathogenic —
RS1182545971 RORB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1182566703 GATA4 Health Risk Conflicting classifications of pathogenicity Tetralogy of Fallot, Atrioventricular septal defect 4
RS1182592818 CEP250 Health Risk Pathogenic —
RS1182595182 NDUFS6 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 9
RS1182598654 NRL Health Risk Pathogenic —
RS1182603872 GCK Health Risk Uncertain significance/Uncertain risk allele Inborn genetic diseases, Maturity-onset diabetes of the young
RS1182614290 DNAJB2 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS1182635980 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS1182648647 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1182648920 F9 Health Risk Pathogenic Thrombophilia, X-linked
RS1182653117 SLC12A3 Health Risk Pathogenic —
RS1182670238 HGD Health Risk Pathogenic/Likely pathogenic Alkaptonuria, Alkaptonuria
RS1182676302 SCO2 Health Risk Likely pathogenic Cardioencephalomyopathy, fatal infantile
RS1182690810 DNAH1 Health Risk Pathogenic Spermatogenic failure 18, Ciliary dyskinesia
RS1182705193 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1182741031 OCRL Health Risk Pathogenic Lowe syndrome, Nephrolithiasis/nephrocalcinosis
RS1182743416 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS1182748194 PCARE Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1182781290 TJP2 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS1182790091 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, GRACILE syndrome
RS1182802068 CPS1 Health Risk Pathogenic/Likely pathogenic Pulmonary hypertension, neonatal
RS1182803771 CAPN10 Health Risk Pathogenic —
« Prev 1 ... 212 213 214 215 216 217 218 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →