Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation CLINVAR Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction. 26496715

2016
dbSNP: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation CLINVAR Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects. 26063740

2015
dbSNP: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation CLINVAR Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. 25417810

2014
dbSNP: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation 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: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation CLINVAR An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations. 23303164

2013
dbSNP: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation CLINVAR Structure-guided topographic mapping and mutagenesis to elucidate binding sites for the human ether-a-go-go-related gene 1 potassium channel (KCNH2) activator NS1643. 22573844

2012
dbSNP: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation CLINVAR Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations. 18808722

2008
dbSNP: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation CLINVAR Long QT and Brugada syndrome gene mutations in New Zealand. 17905336

2007
dbSNP: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation CLINVAR Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism. 16432067

2006
dbSNP: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation 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: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation CLINVAR Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome. 11468227

2001
dbSNP: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000
dbSNP: rs199472957
rs199472957
KCNH2
C 0.700 CausalMutation CLINVAR Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome. 9544837

1998
dbSNP: rs199472957
rs199472957
KCNH2
G 0.700 GeneticVariation CLINVAR