Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. 26669661

2016
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR The enigmatic cytoplasmic regions of KCNH channels. 25158096

2015
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. 23631430

2013
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. 23303164

2013
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome. 23158531

2012
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Mutation and gender-specific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome. 21440677

2011
dbSNP: rs199473538
rs199473538
KCNH2
A 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: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome. 19695459

2009
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome]. 16831322

2006
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. 16432067

2006
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. 11854117

2002
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. Human Ether-à-go-go-Related Gene. 12270925

2002
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations. 11741928

2002
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Analysis of the cyclic nucleotide binding domain of the HERG potassium channel and interactions with KCNE2. 11278781

2001
dbSNP: rs199473538
rs199473538
KCNH2
A 0.700 GeneticVariation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000