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
RS776691605 TMPRSS15 Health Risk Pathogenic —
RS776692221 TRMU Health Risk Conflicting classifications of pathogenicity —
RS776692894 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS776693090 MYH14 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 4A, Autosomal dominant nonsyndromic hearing loss 4A
RS776693219 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS776693512 MET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Papillary renal cell carcinoma type 1
RS776693680 SMARCB1 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 1, Hereditary cancer-predisposing syndrome
RS776694051 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS776694218 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS776696051 SMARCA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776696394 PTPRC Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS776697039 CENPF Health Risk Likely pathogenic Stromme syndrome, Stromme syndrome
RS776697598 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS776697656 RYR1 Health Risk Pathogenic Inborn genetic diseases, RYR1-related disorder
RS776698242 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS776698364 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS776698746 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS776699786 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS776699964 SZT2 Health Risk Conflicting classifications of pathogenicity —
RS776701050 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS776701367 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS776701765 COQ2 Health Risk Conflicting classifications of pathogenicity Coenzyme Q10 deficiency, primary
RS776701792 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS776701915 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS776702167 HYLS1 Health Risk Pathogenic —
RS776702276 IARS1 Health Risk Pathogenic —
RS776703291 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, GCK-related disorder
RS776704047 KIF4A Health Risk Conflicting classifications of pathogenicity —
RS776704427 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS776705132 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiomyopathy
RS776705174 ERCC2 Health Risk Pathogenic/Likely pathogenic ERCC2-related disorder, Xeroderma pigmentosum
RS776705338 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776706307 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS776708126 MYO5B Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS776709663 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS776709730 PIEZO1 Health Risk Pathogenic/Likely pathogenic Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, Lymphatic malformation 6
RS776710848 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS776711005 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS776711228 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS776712453 CASP8 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2B, Autoimmune lymphoproliferative syndrome type 2B
RS776712928 LCT Health Risk Conflicting classifications of pathogenicity Congenital lactase deficiency, Congenital lactase deficiency
RS776713811 ABCC8 Health Risk Pathogenic —
RS776713934 FANCB Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS776713955 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, Autosomal recessive Parkinson disease 14
RS776714935 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS776715085 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS776715466 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS776715594 PIGM Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS776718481 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS776718970 PKD2 Health Risk Pathogenic Polycystic kidney disease 2, Polycystic kidney disease 2
RS776719541 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS776719750 CXCR2 Health Risk Pathogenic —
RS776719958 CAMK2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776720232 PGAP3 Health Risk Pathogenic/Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 4, Hyperphosphatasia with intellectual disability syndrome 4
RS776720353 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1
RS776720591 TRIOBP Health Risk Likely pathogenic —
RS776720609 DPAGT1 Health Risk Pathogenic/Likely pathogenic DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS776721065 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, Inborn genetic diseases
RS776722304 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS77672261 HMOX1 Health Risk Conflicting classifications of pathogenicity —
RS776722884 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS776723079 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS776724275 ADGRG1 Health Risk Conflicting classifications of pathogenicity Bilateral frontoparietal polymicrogyria, Bilateral frontoparietal polymicrogyria
RS776724565 PPIB Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 9, Osteogenesis imperfecta type 9
RS776724595 FKTN Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype
RS776725795 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS776727320 CERKL Health Risk Pathogenic Retinal dystrophy, Retinitis pigmentosa 26
RS776728101 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Inborn genetic diseases
RS776728534 ARMC12 Health Risk Pathogenic Spermatogenic failure 90, Spermatogenic failure 90
RS776728790 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS776729515 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS776730073 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS776730435 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS776730538 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS776730549 BBS12 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 12
RS776730737 IGHMBP2 Health Risk Pathogenic/Likely pathogenic Distal spinal muscular atrophy, Autosomal recessive distal spinal muscular atrophy 1
RS776731355 ABCA3 Health Risk Pathogenic Hereditary pulmonary alveolar proteinosis, Hereditary pulmonary alveolar proteinosis
RS776731510 HNRNPA2B1 Health Risk Conflicting classifications of pathogenicity Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2
RS776731688 PEX12 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS776733170 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS776734314 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS776734688 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Homocystinuria due to methylene tetrahydrofolate reductase deficiency
RS776735249 MVK Health Risk Pathogenic/Likely pathogenic Mevalonic aciduria, Porokeratosis 3
RS776736207 KARS1 Health Risk Conflicting classifications of pathogenicity —
RS776736691 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS776737156 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS776737413 BIN1 Health Risk Conflicting classifications of pathogenicity Myopathy, centronuclear
RS776738086 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS776738184 SELENON Health Risk Pathogenic/Likely pathogenic SEPN1-related disorder, Eichsfeld type congenital muscular dystrophy
RS776738338 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS776739942 AOPEP Health Risk Likely pathogenic Dystonia 31, Dystonia 31
RS776740035 POGZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
RS776740276 IMPG2 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS776740325 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS776742629 TPO Health Risk Pathogenic TPO-related disorder, Deficiency of iodide peroxidase
RS776743221 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Inborn genetic diseases
RS776743331 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS776743373 OCRL Health Risk Pathogenic/Likely pathogenic Lowe syndrome, Dent disease type 2
RS776744207 COL2A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS776744306 RTEL1 Health Risk Likely pathogenic Interstitial lung disease 2, Dyskeratosis congenita
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