SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS892920643 HEXB Health Risk Pathogenic/Likely pathogenic Sandhoff disease, Sandhoff disease
RS892947296 ALDOA Health Risk Likely pathogenic HNSHA due to aldolase A deficiency, HNSHA due to aldolase A deficiency
RS892958562 B3GALT6 Health Risk Conflicting classifications of pathogenicity Spondyloepimetaphyseal dysplasia with joint laxity, type 1
RS893004444 PLOD2 Health Risk Conflicting classifications of pathogenicity Bruck syndrome 2, Osteogenesis imperfecta
RS893031937 EP300 Health Risk Pathogenic —
RS893076827 PNKP Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 12
RS893119657 UNC13D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 3
RS893127185 WNT10A Health Risk Likely pathogenic Odonto-onycho-dermal dysplasia, Tooth agenesis
RS893130646 TYMP Health Risk Pathogenic —
RS893173151 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, AKAP9-related disorder
RS893198212 CYP1B1 Health Risk Pathogenic Congenital glaucoma, Congenital glaucoma
RS893203290 CHD2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy 94, Developmental and epileptic encephalopathy 94
RS893206762 TAB2 Health Risk Conflicting classifications of pathogenicity —
RS893207601 CTNS Health Risk Pathogenic/Likely pathogenic Nephropathic cystinosis, Inborn genetic diseases
RS893217390 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS893223321 FMO3 Health Risk Pathogenic/Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS893229476 MTRR Health Risk Pathogenic Methylcobalamin deficiency type cblE, Disorders of Intracellular Cobalamin Metabolism
RS893232039 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS893252924 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS893256143 HNF1A Health Risk Pathogenic Diabetes mellitus, Monogenic diabetes
RS893284652 DEAF1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 24
RS893299206 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS893406669 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Retinal cone dystrophy 4, Retinal cone dystrophy 4
RS893407745 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS893418743 ATP2C1 Health Risk Likely pathogenic —
RS893423761 CIB1 Health Risk Pathogenic —
RS893497345 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS893498810 KIF21B Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder
RS893536407 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS893554512 ARID1B Health Risk Conflicting classifications of pathogenicity ARID1B-related disorder, Inborn genetic diseases
RS893564568 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS893599116 LAMB3 Health Risk Pathogenic —
RS893615522 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS893650468 AHI1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome and related disorders
RS893650971 DST Health Risk Pathogenic/Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS893784943 BPTF Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS893800197 TMPRSS15 Health Risk Likely pathogenic —
RS893804958 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypercholesterolemia
RS893826250 RDX Health Risk Likely pathogenic —
RS893978143 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS893995495 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 5
RS894098325 OTOF Health Risk Conflicting classifications of pathogenicity Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment
RS894122437 EYS Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS894151180 COL18A1 Health Risk Likely pathogenic Nonpapillary renal cell carcinoma, Melanoma
RS894208635 COL13A1 Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS894213416 HNF1B Health Risk Likely pathogenic Renal cysts and diabetes syndrome, Renal cysts and diabetes syndrome
RS894257173 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS894289737 PEX1 Health Risk Pathogenic/Likely pathogenic Zellweger spectrum disorders, Heimler syndrome 1
RS894292181 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS894309052 MYO7A Health Risk Pathogenic —
RS894382905 CHRNE Health Risk Pathogenic Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4A
RS894421376 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS894423675 ABHD5 Health Risk Likely pathogenic —
RS894439242 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, KIT-related disorder
RS894474570 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS894525161 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS894541189 TPRN Health Risk Pathogenic —
RS894593728 MESP2 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 2, autosomal recessive
RS894664317 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS894679602 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS894700976 POLR2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, POLR2A-related disorder
RS894742250 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS894752417 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS894765917 FBRSL1 Health Risk Conflicting classifications of pathogenicity —
RS894781955 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS894782145 C6 Health Risk Pathogenic/Likely pathogenic Complement component 6 deficiency, Complement component 6 deficiency
RS894830970 AHI1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome
RS894863416 CYP4V2 Health Risk Pathogenic —
RS894887380 WDPCP Health Risk Pathogenic Bardet-Biedl syndrome, WDPCP-related disorder
RS894904610 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS894907950 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS894935356 ELANE Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Inborn genetic diseases
RS894958571 MBD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 1
RS894977586 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS894978176 COL17A1 Health Risk Pathogenic —
RS895000018 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS895018646 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS895077278 STXBP1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 4
RS895130488 PSMD12 Health Risk Pathogenic Stankiewicz-Isidor syndrome, Stankiewicz-Isidor syndrome
RS895132829 EYS Health Risk Likely pathogenic —
RS895159127 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS895175332 PUS1 Health Risk Pathogenic/Likely pathogenic Myopathy, lactic acidosis
RS895188181 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS895214647 GUCY2C Health Risk Conflicting classifications of pathogenicity Meconium ileus, Meconium ileus
RS895237296 KMT2C Health Risk Conflicting classifications of pathogenicity —
RS895239701 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS895274784 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS895303255 PNPO Health Risk Pathogenic Pyridoxal phosphate-responsive seizures, Pyridoxal phosphate-responsive seizures
RS895366086 NLRP3 Health Risk Conflicting classifications of pathogenicity Chronic infantile neurological, cutaneous and articular syndrome
RS895394181 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS895426748 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS895436485 SMARCAD1 Health Risk Pathogenic Basan syndrome, Basan syndrome
RS895478584 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS895505794 KCNJ2 Health Risk Conflicting classifications of pathogenicity Short QT syndrome type 3, Andersen Tawil syndrome
RS895514056 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS895532843 THOC6 Health Risk Likely pathogenic THOC6-related disorder, THOC6-related disorder
RS895556824 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS895560697 CACNA1C Health Risk Pathogenic —
RS895581773 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS895607185 SOX5 Health Risk Pathogenic Lamb-Shaffer syndrome, Inborn genetic diseases
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