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
RS369328277 PGM3 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 23, Inborn genetic diseases
RS369328625 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS369329819 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS369330981 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS369331788 FRAS1 Health Risk Conflicting classifications of pathogenicity —
RS369332786 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS369332787 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS369332959 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS369333639 GNPTG Health Risk Conflicting classifications of pathogenicity GNPTG-mucolipidosis, GNPTG-mucolipidosis
RS369334025 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal recessive Alport syndrome, Hematuria
RS369335432 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS369335591 TUBGCP6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369335838 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS369335936 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS369336236 DNMT3B Health Risk Conflicting classifications of pathogenicity Centromeric instability of chromosomes 1, 9 and 16 and immunodeficiency
RS369337074 SPARC Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 17, Osteogenesis imperfecta type 17
RS369338792 ESCO2 Health Risk Conflicting classifications of pathogenicity Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome
RS369339209 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS369339903 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS369341108 FREM1 Health Risk Conflicting classifications of pathogenicity Oculotrichoanal syndrome, Oculotrichoanal syndrome
RS369341309 ADGRV1 Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome
RS369342449 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS369342933 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS369344419 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS369344808 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369344885 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS369345045 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS369345791 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS369345918 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Inborn genetic diseases
RS369345925 TRAF3IP2 Health Risk Conflicting classifications of pathogenicity Candidiasis, familial
RS369345931 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neoplasm of stomach
RS369346055 IFT122 Health Risk Pathogenic Cranioectodermal dysplasia 1, Cranioectodermal dysplasia 1
RS369346224 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, FOXC1-related disorder
RS369346271 CDIN1 Health Risk Conflicting classifications of pathogenicity —
RS369346315 SCN8A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 13
RS369346799 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS369347845 EYS Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 25
RS369347947 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS369348360 STIL Health Risk Likely pathogenic Abnormal brain morphology, Abnormal brain morphology
RS369349023 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS369349413 MED17 Health Risk Conflicting classifications of pathogenicity Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Inborn genetic diseases
RS369351359 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS369351466 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Epidermolysis bullosa
RS369352810 ITPR1 Health Risk Conflicting classifications of pathogenicity —
RS369353892 NTRK1 Health Risk Pathogenic/Likely pathogenic Hereditary insensitivity to pain with anhidrosis, NTRK1-related disorder
RS369354736 SLC22A5 Health Risk Likely pathogenic Renal carnitine transport defect, Decreased circulating carnitine concentration
RS369355023 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369356562 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS369356672 FGFR1 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 2 with or without anosmia, Pfeiffer syndrome
RS369357349 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome type 2A
RS369359244 LAMB2 Health Risk Conflicting classifications of pathogenicity LAMB2-related infantile-onset nephrotic syndrome, Pierson syndrome
RS369359375 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS369359789 PSMB9 Health Risk Conflicting classifications of pathogenicity Proteasome-associated autoinflammatory syndrome 3, Proteasome-associated autoinflammatory syndrome 3
RS369360334 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS369360556 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS369360559 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS369361055 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Inborn genetic diseases
RS369361064 IFT81 Health Risk Pathogenic —
RS369361493 CPLANE1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Orofaciodigital syndrome type 6
RS369361532 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS369362360 TGFBI Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy
RS369363360 CR2 Health Risk Pathogenic Immunodeficiency, common variable
RS369363545 FAT1 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS369363563 NBEAL2 Health Risk Conflicting classifications of pathogenicity Gray platelet syndrome, Inborn genetic diseases
RS369363596 GANAB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369363676 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS369363695 FREM1 Health Risk Pathogenic —
RS369364335 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS369365087 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS369365466 FGD4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS369365744 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS369366499 NF1 Health Risk Conflicting classifications of pathogenicity Café-au-lait macules with pulmonary stenosis, Neurofibromatosis
RS369367865 DSTYK Health Risk Conflicting classifications of pathogenicity DSTYK-related disorder, DSTYK-related disorder
RS369368181 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS369369333 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS369369849 USH1C Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS369370495 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5C
RS369371040 TMC8 Health Risk Pathogenic/Likely pathogenic Epidermodysplasia verruciformis, susceptibility to
RS369373293 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS369373868 BAZ2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369375331 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS369377486 TRIOBP Health Risk Conflicting classifications of pathogenicity —
RS369379463 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS369379490 TMPO Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Loeys-Dietz syndrome 2
RS369381870 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS369382063 SCNN1A Health Risk Conflicting classifications of pathogenicity Pseudohypoaldosteronism, type IB1
RS369382527 OPHN1 Health Risk Conflicting classifications of pathogenicity OPHN1-related disorder, OPHN1-related disorder
RS369382841 MAB21L2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369382960 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS369383271 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS369383272 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS369384363 CCDC88C Health Risk Pathogenic Hydrocephalus, nonsyndromic
RS369385048 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS369385261 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS369385294 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS369385931 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS369387606 TENM4 Health Risk Conflicting classifications of pathogenicity —
RS369387744 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS369389149 HPS6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS369389595 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
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