Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Aggregate penetrance of genomic variants for actionable disorders in European and African Americans. 27831900

2016
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis. 26546361

2015
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity. 23392653

2013
dbSNP: rs12720458
rs12720458
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: rs12720458
rs12720458
KCNQ1
G 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: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. 19841300

2009
dbSNP: rs12720458
rs12720458
KCNQ1
G 0.700 GeneticVariation CLINVAR Images in cardiovascular medicine. Himalayan T waves in the congenital long-QT syndrome. 15781747

2005
dbSNP: rs12720458
rs12720458
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