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
RS2486004180 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486004220 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486004826 KCNH2 Health Risk Likely pathogenic Congenital long QT syndrome, Congenital long QT syndrome
RS2486005034 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS2486006461 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486006753 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486006764 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Long QT syndrome
RS2486006893 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Long QT syndrome
RS2486007026 KCNH2 Health Risk Pathogenic Cardiac arrhythmia, Cardiovascular phenotype
RS2486007321 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486007901 KCNH2 Health Risk Pathogenic Cardiac arrhythmia, Cardiac arrhythmia
RS2486008033 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486008179 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486008235 KCNH2 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Long QT syndrome
RS2486008348 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486008594 KCNH2 Health Risk Likely pathogenic —
RS2486008628 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486008796 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486009300 CAMK2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 54
RS2486011704 KCNH2 Health Risk Likely pathogenic Congenital long QT syndrome, Congenital long QT syndrome
RS2486012451 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486012541 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486013081 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2486014906 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486015091 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486015845 KCNH2 Health Risk Likely pathogenic —
RS2486016384 KCNH2 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome 2
RS2486021154 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2486022848 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2486023517 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2486024567 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486025277 MCPH1 Health Risk Likely pathogenic —
RS2486025430 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486025628 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486026485 MCPH1 Health Risk Pathogenic —
RS2486027252 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486027293 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486027335 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486027825 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2486029577 KCNH2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486030134 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486030446 KCNH2 Health Risk Likely pathogenic Long QT syndrome 2, Long QT syndrome 2
RS2486030655 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486031451 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486032262 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Long QT syndrome
RS2486034553 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486035570 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2486035700 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486035735 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS2486035827 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS2486035896 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome 2
RS2486035931 MCPH1 Health Risk Likely pathogenic —
RS2486036512 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486037302 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome 2
RS2486037915 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486039022 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486039255 KCNH2 Health Risk Likely pathogenic Long QT syndrome 2, Long QT syndrome 2
RS2486039285 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486039696 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome
RS2486039708 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486040318 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486042652 CACNA2D1 Health Risk Pathogenic Developmental and epileptic encephalopathy 110, Developmental and epileptic encephalopathy 110
RS2486047773 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486048128 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486048179 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486049259 TWIST1 Health Risk Likely pathogenic —
RS2486049484 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486049592 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS2486049688 TWIST1 Health Risk Conflicting classifications of pathogenicity Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS2486049774 TWIST1 Health Risk Likely pathogenic —
RS2486049902 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS2486049961 TWIST1 Health Risk Pathogenic Robinow-Sorauf syndrome, Saethre-Chotzen syndrome
RS2486049984 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, Saethre-Chotzen syndrome
RS2486050139 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS2486050693 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486051098 KCNH2 Health Risk Likely pathogenic Congenital long QT syndrome, Congenital long QT syndrome
RS2486051149 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS2486051311 TWIST1 Health Risk Pathogenic/Likely pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS2486051486 TWIST1 Health Risk Pathogenic Saethre-Chotzen syndrome, TWIST1-related craniosynostosis
RS2486051757 KCNH2 Health Risk Likely pathogenic Congenital long QT syndrome, Congenital long QT syndrome
RS2486051798 TWIST1 Health Risk Pathogenic TWIST1-related craniosynostosis, Saethre-Chotzen syndrome
RS2486061046 MCPH1 Health Risk Pathogenic Microcephaly 1, primary
RS2486061080 MCPH1 Health Risk Pathogenic —
RS2486062211 MCPH1 Health Risk Likely pathogenic —
RS2486077623 MCPH1 Health Risk Pathogenic —
RS2486081047 KCNH2 Health Risk Likely pathogenic Long QT syndrome 2, Long QT syndrome 2
RS2486081957 KCNH2 Health Risk Likely pathogenic Long QT syndrome 2, Long QT syndrome 2
RS2486082252 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome
RS2486082478 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2486083513 KCNH2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486084284 CAMK2B Health Risk Likely pathogenic Intellectual disability, autosomal dominant 54
RS2486085709 FIG4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2486086588 CAMK2B Health Risk Conflicting classifications of pathogenicity —
RS2486087544 KCNH2 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486087618 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS2486087905 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2486088468 KCNH2 Health Risk Pathogenic —
RS2486088606 KCNH2 Health Risk Pathogenic Long QT syndrome 2, Long QT syndrome 2
RS2486088642 SLC25A13 Health Risk Pathogenic Citrin deficiency, Citrin deficiency
RS2486088798 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
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