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
RS1841404957 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1841411687 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS184143186 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS184144118 PCDH15 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Usher syndrome type 1F
RS184144177 IMPG1 Health Risk Conflicting classifications of pathogenicity Gastric cancer, Gastric cancer
RS184144181 BRAF Health Risk Conflicting classifications of pathogenicity LEOPARD syndrome 3, Noonan syndrome 7
RS1841455410 KIF5B Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Primary dilated cardiomyopathy
RS1841460358 CDH23 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS184146463 CEP41 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 15, Inborn genetic diseases
RS1841465369 STXBP1 Health Risk Pathogenic —
RS1841465387 CDH23 Health Risk Pathogenic —
RS1841465878 WAC Health Risk Likely pathogenic —
RS184148104 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1841497902 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS184151103 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS184151283 MAP2K1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS184153985 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1841554531 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS1841564743 STXBP1 Health Risk Pathogenic Infantile epilepsy syndrome, Inborn genetic diseases
RS1841566082 STXBP1 Health Risk Pathogenic —
RS1841566644 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1841568184 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1841574026 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1841574509 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1841576526 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1841576850 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1841583771 OGDHL Health Risk Likely pathogenic Yoon-Bellen neurodevelopmental syndrome, Yoon-Bellen neurodevelopmental syndrome
RS1841597665 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1841599143 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS1841611480 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1841611651 STXBP1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1841613716 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1841614275 STXBP1 Health Risk Pathogenic —
RS1841615616 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1841616050 CDH23 Health Risk Pathogenic —
RS1841616772 STXBP1 Health Risk Likely pathogenic —
RS1841639385 MAT1A Health Risk Likely pathogenic Hepatic methionine adenosyltransferase deficiency, Hepatic methionine adenosyltransferase deficiency
RS1841723344 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1841724942 STXBP1 Health Risk Pathogenic —
RS1841745686 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1841758961 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS1841759683 ADAMTS13 Health Risk Likely pathogenic Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
RS1841766225 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1841769844 STXBP1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Epileptic encephalopathy
RS1841773052 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS184177890 OPA3 Health Risk Conflicting classifications of pathogenicity Optic atrophy 3, 3-Methylglutaconic aciduria type 3
RS1841785520 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS1841794635 DNAJC12 Health Risk Pathogenic Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
RS1841794857 DNAJC12 Health Risk Pathogenic Hyperphenylalaninemia due to DNAJC12 deficiency, Hyperphenylalaninemia due to DNAJC12 deficiency
RS184185835 GRIA3 Health Risk Likely pathogenic —
RS1841869298 STXBP1 Health Risk Likely pathogenic Infantile epilepsy syndrome, Early-infantile DEE
RS1841870815 STXBP1 Health Risk Pathogenic —
RS1841873265 KAT6B Health Risk Pathogenic Intellectual disability, Intellectual disability
RS184188371 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Melnick-Needles syndrome
RS1841885880 CDH23 Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1841917213 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS184192014 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1841921374 CDH23 Health Risk Likely pathogenic Retinal dystrophy, Autosomal recessive nonsyndromic hearing loss 12
RS1841923572 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1841926049 CDH23 Health Risk Pathogenic Usher syndrome type 1D, Retinal dystrophy
RS184193388 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS1841944944 STXBP1 Health Risk Likely pathogenic Infantile epilepsy syndrome, Infantile epilepsy syndrome
RS1841946692 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1841971198 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS1841971727 CDH23 Health Risk Pathogenic —
RS1841976391 CDH23 Health Risk Pathogenic —
RS1841984743 CDH23 Health Risk Pathogenic —
RS1841984906 CDH23 Health Risk Pathogenic —
RS184200865 ESCO2 Health Risk Conflicting classifications of pathogenicity Roberts-SC phocomelia syndrome, Roberts-SC phocomelia syndrome
RS1842014834 CDHR1 Health Risk Pathogenic —
RS1842039791 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS1842039949 STXBP1 Health Risk Pathogenic Infantile epilepsy syndrome, Infantile epilepsy syndrome
RS1842042825 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1842044352 STXBP1 Health Risk Pathogenic —
RS1842044505 STXBP1 Health Risk Pathogenic Early-infantile DEE, Developmental and epileptic encephalopathy
RS1842045865 STXBP1 Health Risk Pathogenic —
RS1842046459 STXBP1 Health Risk Pathogenic Infantile epilepsy syndrome, Early-infantile DEE
RS1842099343 KAT6B Health Risk Likely pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS1842129329 ADAM22 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 61
RS1842129715 CDHR1 Health Risk Likely pathogenic —
RS184213166 ARL6 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 3, Retinitis pigmentosa
RS184213204 MPDZ Health Risk Conflicting classifications of pathogenicity Hydrocephalus, nonsyndromic
RS1842136149 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1842160172 CDHR1 Health Risk Pathogenic —
RS1842163821 EGR2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, type I
RS184217112 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Type 2 diabetes mellitus
RS1842187600 EGR2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, type I
RS184218784 PRODH Health Risk Conflicting classifications of pathogenicity Proline dehydrogenase deficiency, Schizophrenia 4
RS1842189258 CDHR1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1842192806 MYO3A Health Risk Pathogenic —
RS1842216995 CDHR1 Health Risk Likely pathogenic Retinitis pigmentosa, Cone-rod dystrophy 15
RS1842248191 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS1842252448 PSAP Health Risk risk factor Parkinson disease 24, autosomal dominant
RS1842277745 CDHR1 Health Risk Pathogenic —
RS1842286098 NUP188 Health Risk Pathogenic Sandestig-stefanova syndrome, Sandestig-stefanova syndrome
RS184229465 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1842310280 PSAP Health Risk Pathogenic Combined PSAP deficiency, Combined PSAP deficiency
RS1842324166 CDHR1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1842351095 PSAP Health Risk Pathogenic —
RS1842370188 CDHR1 Health Risk Pathogenic —
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