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
RS776367814 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS776368544 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS776368825 GALC Health Risk Pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS776370351 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS776372744 LAMA3 Health Risk Conflicting classifications of pathogenicity Laryngo-onycho-cutaneous syndrome, Junctional epidermolysis bullosa gravis of Herlitz
RS776374040 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS776374276 OTOF Health Risk Conflicting classifications of pathogenicity —
RS776376695 PLA2G6 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 2B, PLA2G6-associated neurodegeneration
RS776376952 POLR1C Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 3, POLR1C-related disorder
RS776376992 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS776378611 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS776378723 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776380840 FOXP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability-severe speech delay-mild dysmorphism syndrome, Intellectual disability-severe speech delay-mild dysmorphism syndrome
RS776380988 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia
RS776381183 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS776381740 COASY Health Risk Likely pathogenic —
RS776381858 FTCD Health Risk Likely pathogenic Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency
RS776382416 GRHL2 Health Risk Conflicting classifications of pathogenicity —
RS776382586 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS776383010 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS776384541 GNE Health Risk Pathogenic/Likely pathogenic Sialuria, GNE myopathy
RS776385207 ATP8B1 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS776385412 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS776386313 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS776387246 COL1A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, arthrochalasia type
RS776388520 NDUFB9 Health Risk Pathogenic Mitochondrial complex I deficiency, nuclear type 24
RS776388699 GPIHBP1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS776389684 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS776389852 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS776390437 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Usher syndrome type 2A
RS776390640 DHTKD1 Health Risk Likely pathogenic 2-aminoadipic 2-oxoadipic aciduria, DHTKD1-related disorder
RS776391208 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS776392903 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS776393529 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS776395588 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS776395616 COL9A3 Health Risk Conflicting classifications of pathogenicity —
RS776395665 DNAH9 Health Risk Likely pathogenic DNAH9-related disorder, DNAH9-related disorder
RS776395704 SALL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Townes syndrome
RS776396482 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776397915 GAN Health Risk Conflicting classifications of pathogenicity Giant axonal neuropathy 1, Inborn genetic diseases
RS776397992 RAD21 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 4
RS776398212 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiomyopathy
RS776398739 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS776399237 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS776399238 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS776399707 IDH3B Health Risk Conflicting classifications of pathogenicity —
RS776399733 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS776400008 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS776400671 AUTS2 Health Risk Likely pathogenic —
RS776401728 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Cardiovascular phenotype
RS776402672 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS776403671 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS776403850 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, NIPBL-related disorder
RS776404064 CYP11B2 Health Risk Likely pathogenic —
RS776404697 GAN Health Risk Pathogenic Giant axonal neuropathy 1, Giant axonal neuropathy 1
RS776404901 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS776405427 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS776406062 PDGFRB Health Risk Conflicting classifications of pathogenicity Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Acroosteolysis-keloid-like lesions-premature aging syndrome
RS776406819 TNNT2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, familial restrictive
RS776407305 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS776408645 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS776409973 PDGFB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776410552 EPHB4 Health Risk Likely pathogenic Capillary malformation-arteriovenous malformation 2, Capillary malformation-arteriovenous malformation 2
RS776411377 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS776411851 PEX7 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 9B, Rhizomelic chondrodysplasia punctata type 1
RS776412334 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS776412620 COMP Health Risk Conflicting classifications of pathogenicity Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS776413333 ESPN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776413354 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS776415223 GDF5 Health Risk Conflicting classifications of pathogenicity Grebe syndrome, Brachydactyly
RS776415431 ZNF142 Health Risk Likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS776416150 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS776416706 WDR19 Health Risk Likely pathogenic Senior-Loken syndrome 8, Familial cancer of breast
RS776416750 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1F, Usher syndrome type 1F
RS776417262 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS776417303 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776418227 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS776419278 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS776421446 FLNB Health Risk Conflicting classifications of pathogenicity —
RS776421645 AGT Health Risk Likely pathogenic Renal tubular dysgenesis, Renal tubular dysgenesis
RS776421777 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS776422347 KCNQ2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 7
RS776422410 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS776422793 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS776422861 XYLT1 Health Risk Pathogenic Desbuquois dysplasia 2, Desbuquois dysplasia 2
RS776423109 C3 Health Risk Pathogenic/Likely pathogenic Atypical hemolytic-uremic syndrome with C3 anomaly, C3 glomerulonephritis
RS776423120 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS776424531 NSUN2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776424978 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS776425669 CCDC78 Health Risk Conflicting classifications of pathogenicity Congenital myopathy with internal nuclei and atypical cores, Inborn genetic diseases
RS776426005 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS776426840 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS776426910 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS776426915 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS776428695 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS776429990 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Hereditary cancer-predisposing syndrome
RS776430173 MTHFR Health Risk Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS776430285 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS776431253 HLCS Health Risk Pathogenic/Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS776431738 TBC1D8B Health Risk Conflicting classifications of pathogenicity —
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