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
RS1213146356 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS1213152015 COCH Health Risk Pathogenic Bilateral sensorineural hearing impairment, Bilateral sensorineural hearing impairment
RS1213164662 CC2D2A Health Risk Likely pathogenic COACH syndrome 2, Meckel syndrome
RS1213175712 ALS2 Health Risk Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS12131800 CACNA1E Health Risk Pathogenic Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1213180923 ZBTB24 Health Risk Pathogenic Immunodeficiency-centromeric instability-facial anomalies syndrome 2, Immunodeficiency-centromeric instability-facial anomalies syndrome 2
RS1213185511 ADCY5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1213187506 SFTPB Health Risk Likely pathogenic SFTPB-related disorder, SFTPB-related disorder
RS1213194580 GDF1 Health Risk Pathogenic —
RS1213203489 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1213228037 CNOT3 Health Risk Pathogenic Intellectual developmental disorder with speech delay, autism
RS1213240312 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS1213244424 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS1213252028 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS1213265293 CNGB1 Health Risk Likely pathogenic —
RS1213271945 WDR62 Health Risk Likely pathogenic —
RS1213272601 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1213277033 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1213277062 PTS Health Risk Pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS1213277350 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1213279792 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS1213285317 ABCC9 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1O, Cardiovascular phenotype
RS1213286417 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS1213326298 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1213338072 DST Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS1213350464 FANCM Health Risk Likely pathogenic FANCM-related disorder, FANCM-related disorder
RS1213368057 RELA Health Risk Pathogenic —
RS1213371362 ERCC6 Health Risk Pathogenic/Likely pathogenic Cerebrooculofacioskeletal syndrome 1, Cerebrooculofacioskeletal syndrome 1
RS1213371923 MYO15A Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS1213378896 ASS1 Health Risk Likely pathogenic Citrullinemia type I, Citrullinemia type I
RS1213412404 SLC7A9 Health Risk Likely pathogenic —
RS1213421499 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1213427451 COL1A1 Health Risk Pathogenic Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1213452826 LOX Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 10
RS1213456960 IFT172 Health Risk Pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS1213469406 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1213473194 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1213475397 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, MED12-related disorder
RS1213481140 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1213484295 SATB1 Health Risk Likely pathogenic Kohlschutter-Tonz syndrome-like, Kohlschutter-Tonz syndrome-like
RS1213514224 NTHL1 Health Risk Conflicting classifications of pathogenicity —
RS1213550131 LARS2 Health Risk Pathogenic/Likely pathogenic —
RS1213557289 DNAAF2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1213569173 COL17A1 Health Risk Pathogenic —
RS1213596075 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1213600316 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS1213619304 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS1213637962 COL4A3 Health Risk Likely pathogenic —
RS1213672903 COL27A1 Health Risk Pathogenic —
RS1213680890 CORO1A Health Risk Pathogenic Severe combined immunodeficiency due to CORO1A deficiency, Severe combined immunodeficiency due to CORO1A deficiency
RS1213702908 CBLIF Health Risk Likely pathogenic Hereditary intrinsic factor deficiency, Hereditary intrinsic factor deficiency
RS1213710245 WDR62 Health Risk Pathogenic Microcephaly 2, primary
RS1213724402 TBCK Health Risk Conflicting classifications of pathogenicity Hypotonia, infantile
RS1213743769 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS1213746899 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS1213752306 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1213755599 TECPR2 Health Risk Pathogenic Hereditary spastic paraplegia 49, Hereditary spastic paraplegia 49
RS1213764655 KCNJ1 Health Risk Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS1213787718 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS1213808242 TBX4 Health Risk Pathogenic —
RS1213826124 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1213827359 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS1213841516 SMAD6 Health Risk Conflicting classifications of pathogenicity Radioulnar synostosis, Frontal bossing
RS1213865421 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS1213870507 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1213870519 CD3E Health Risk Pathogenic Immunodeficiency 18, Immunodeficiency 18
RS1213891703 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS1213894295 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1213908678 CALM1 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 4, Long QT syndrome 14
RS1213914911 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1213915943 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1213927843 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS1213930919 TTN Health Risk Likely pathogenic Hypertrophic cardiomyopathy 9, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1213961819 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1213965862 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS1213970824 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1213976958 PLOD3 Health Risk Pathogenic —
RS1214001883 TULP1 Health Risk Pathogenic —
RS1214012000 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1214047183 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1214070111 FGA Health Risk Pathogenic Hypofibrinogenemia, Hypofibrinogenemia
RS1214096526 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS1214104267 PIGO Health Risk Likely pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS1214130226 DLD Health Risk Pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS1214154774 BLM Health Risk Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1214177178 ELAC2 Health Risk Likely pathogenic ELAC2-related disorder, ELAC2-related disorder
RS1214197748 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, COPA-related disorder
RS1214213337 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1214222702 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1214223476 MYBPC3 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiomyopathy
RS1214230970 DNHD1 Health Risk Pathogenic —
RS1214257415 KIF11 Health Risk Pathogenic/Likely pathogenic —
RS1214280939 PLAA Health Risk Pathogenic —
RS1214281478 ALPK3 Health Risk Likely pathogenic —
RS1214305423 VHL Health Risk Pathogenic Von Hippel-Lindau syndrome, Chuvash polycythemia
RS1214305633 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS121434215 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, adult type
RS121434216 ATM Health Risk Likely pathogenic Ataxia - telangiectasia variant, Ataxia-telangiectasia syndrome
RS121434218 ATM Health Risk Likely pathogenic Ataxia-telangiectasia without immunodeficiency, Ataxia-telangiectasia without immunodeficiency
RS121434219 ATM Health Risk Pathogenic Ataxia-telangiectasia without immunodeficiency, Ataxia-telangiectasia syndrome
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