Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death. 26187847

2015
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2. 24606995

2014
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. 24561134

2014
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition. 24400172

2013
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 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
T 0.700 GeneticVariation CLINVAR Intracellular domains interactions and gated motions of I(KS) potassium channel subunits. 19521339

2009
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Functional interactions between KCNE1 C-terminus and the KCNQ1 channel. 19340287

2009
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels. 19008479

2008
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. 16818210

2006
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel. 12566567

2003
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Distinct gene-specific mechanisms of arrhythmia revealed by cardiac gene transfer of two long QT disease genes, HERG and KCNE1. 11320260

2001
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome. 9445165

1998
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR KCNE1 mutations cause jervell and Lange-Nielsen syndrome. 9354783

1997
dbSNP: rs74315445
rs74315445
KCNE1
T 0.700 GeneticVariation CLINVAR Mutations in the hminK gene cause long QT syndrome and suppress IKs function. 9354802

1997