Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199473522
rs199473522
T 0.710 CausalMutation CLINVAR Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome. 25417810

2014

dbSNP: rs199473522
rs199473522
T 0.710 CausalMutation CLINVAR Sodium-channel blockers might contribute to the prevention of ventricular tachycardia in patients with long QT syndrome type 2: a description of 4 cases. 22402334

2012

dbSNP: rs199473522
rs199473522
T 0.710 CausalMutation CLINVAR Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome. 22949429

2012

dbSNP: rs199473522
rs199473522
T 0.710 CausalMutation CLINVAR Long QT syndrome with nocturnal cardiac events caused by a KCNH2 missense mutation (G604S). 22821100

2012

dbSNP: rs199473522
rs199473522
T 0.710 CausalMutation 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: rs199473522
rs199473522
T 0.710 CausalMutation CLINVAR Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome. 19843919

2009

dbSNP: rs199473522
rs199473522
T 0.710 CausalMutation CLINVAR Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome. 18441445

2008

dbSNP: rs199473522
rs199473522
T 0.710 CausalMutation CLINVAR The G604S-hERG mutation alters the biophysical properties and exerts a dominant-negative effect on expression of hERG channels in HEK293 cells. 18386051

2008

dbSNP: rs199473522
rs199473522
0.710 GeneticVariation BEFREE A missense mutation (G604S) in the S5/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death. 17171344

2007

dbSNP: rs199473522
rs199473522
T 0.710 CausalMutation CLINVAR A missense mutation (G604S) in the S5/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death. 17171344

2007

dbSNP: rs199473522
rs199473522
T 0.710 CausalMutation CLINVAR Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. 14998624

2004

dbSNP: rs199473522
rs199473522
T 0.710 CausalMutation CLINVAR The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. 12566525

2003

dbSNP: rs199473522
rs199473522
T 0.710 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: rs199473522
rs199473522
T 0.710 CausalMutation CLINVAR Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. 10973849

2000

dbSNP: rs199473522
rs199473522
T 0.710 CausalMutation CLINVAR Novel KCNQ1 and HERG missense mutations in Dutch long-QT families. 10220144

1999