Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315445
rs74315445
KCNE1
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		T 0.800 GeneticVariation CLINVAR Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. 19716085

2009
dbSNP: rs74315445
rs74315445
KCNE1
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		T 0.800 GeneticVariation CLINVAR Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. 12566567

2003
dbSNP: rs74315445
rs74315445
KCNE1
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		T 0.800 GeneticVariation CLINVAR Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism. 11874988

2002
dbSNP: rs74315445
rs74315445
KCNE1
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		T 0.800 GeneticVariation CLINVAR KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783

1997
dbSNP: rs74315445
rs74315445
KCNE1
CUI: C1867904
Disease: LONG QT SYNDROME 5
LONG QT SYNDROME 5 		T 0.800 CausalMutation CLINVAR