Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472790
rs199472790
KCNQ1
G 0.700 GeneticVariation CLINVAR Left cardiac sympathetic denervation in long QT syndrome: analysis of therapeutic nonresponders. 23728945

2013
dbSNP: rs199472790
rs199472790
KCNQ1
G 0.700 GeneticVariation 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: rs199472790
rs199472790
KCNQ1
G 0.700 GeneticVariation CLINVAR Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene. 17470695

2007
dbSNP: rs199472790
rs199472790
KCNQ1
G 0.700 GeneticVariation CLINVAR Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. 15840476

2005
dbSNP: rs199472790
rs199472790
KCNQ1
G 0.700 GeneticVariation CLINVAR Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642

2004
dbSNP: rs199472790
rs199472790
KCNQ1
G 0.700 GeneticVariation CLINVAR Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome. 14678125

2003