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
RS759851475 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS759852661 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS759852969 TTN Health Risk Conflicting classifications of pathogenicity —
RS759853433 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS759853904 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS759853907 RINT1 Health Risk Conflicting classifications of pathogenicity RINT1-related disorder, Infantile liver failure syndrome 3
RS759856167 AHNAK2 Health Risk Conflicting classifications of pathogenicity —
RS759856890 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS759857078 EARS2 Health Risk Conflicting classifications of pathogenicity —
RS759857680 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS759857784 KLHL7 Health Risk Likely pathogenic —
RS759857993 PCSK1 Health Risk Conflicting classifications of pathogenicity PCSK1-related disorder, PCSK1-related disorder
RS759858754 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS759858813 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS759860918 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS759862062 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS759862377 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS759863454 XPNPEP3 Health Risk Pathogenic Nephronophthisis-like nephropathy 1, Nephronophthisis-like nephropathy 1
RS759864013 PEX26 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7B
RS759867905 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS759868546 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS75986913 MYO9A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759869189 PIEZO1 Health Risk Conflicting classifications of pathogenicity —
RS759869347 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 8
RS759870594 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Colorectal cancer
RS759873621 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Alport syndrome
RS759874172 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS759874504 MYORG Health Risk Pathogenic —
RS759874793 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS759875552 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS759875729 GSR Health Risk Conflicting classifications of pathogenicity —
RS759876062 OCA2 Health Risk Pathogenic/Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS759876319 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS759877008 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS759878392 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS759878676 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759881074 CPLANE1 Health Risk Likely pathogenic Orofaciodigital syndrome type 6, Joubert syndrome 17
RS759881199 TYRP1 Health Risk Pathogenic —
RS759881866 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS759883057 UNC93B1 Health Risk Pathogenic Herpes simplex encephalitis, susceptibility to
RS759883263 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, Idiopathic Pulmonary Fibrosis
RS759883512 GPIHBP1 Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type 1D
RS759884526 GPD2 Health Risk Conflicting classifications of pathogenicity —
RS759885491 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Nemaline myopathy 5
RS759886963 GYS2 Health Risk Likely pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS759887905 CHD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CHD7-related disorder
RS759888144 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS759888604 SUMF1 Health Risk Pathogenic/Likely pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS759890035 COL11A2 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS759891490 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS759892467 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS759893630 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, Intellectual disability
RS759895083 WNK1 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS759896283 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS759896413 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS759897255 KMT2E Health Risk Pathogenic —
RS759898332 TPM2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS759898401 IFT140 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Saldino-Mainzer syndrome
RS759898408 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS759898765 USH2A Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Usher syndrome type 2A
RS759899058 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS759899153 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS759899864 IFT27 Health Risk Conflicting classifications of pathogenicity IFT27-related disorder, Inborn genetic diseases
RS759900071 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia
RS759900272 KAT6A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS759901142 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS759901793 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS759904153 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS759904221 CPT1C Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 73, Hereditary spastic paraplegia 73
RS759904861 DNAH11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Primary ciliary dyskinesia
RS759905184 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS759905934 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS759907949 WASHC5 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS759908186 AKR1D1 Health Risk Likely pathogenic Congenital bile acid synthesis defect 2, Congenital bile acid synthesis defect 2
RS759908203 RAI1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759909394 SUGCT Health Risk Conflicting classifications of pathogenicity —
RS759909785 HPS4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS75991011 SMN1 Health Risk Pathogenic Werdnig-Hoffmann disease, Werdnig-Hoffmann disease
RS759910341 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Thymoma
RS759911602 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS759911990 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS759912179 ANKZF1 Health Risk Conflicting classifications of pathogenicity —
RS759913385 PRF1 Health Risk Likely pathogenic Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2
RS759913677 ARID1A Health Risk Conflicting classifications of pathogenicity ARID1A-related disorder, Inborn genetic diseases
RS759913777 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS759913983 RRP8 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS759914132 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS759914921 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS759915989 MEI1 Health Risk Pathogenic Hydatidiform mole, recurrent
RS759916327 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS759916956 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS759917180 TCF3 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 8b, autosomal recessive
RS759917227 CEP152 Health Risk Pathogenic —
RS759917468 AXIN2 Health Risk Pathogenic/Likely pathogenic Colorectal cancer, Oligodontia-cancer predisposition syndrome
RS75991777 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome 1, Cardiovascular phenotype
RS759918327 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS759918870 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS759918881 PCNT Health Risk Likely pathogenic —
RS759919085 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759921094 TUB Health Risk Pathogenic —
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