Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199472708
rs199472708
KCNQ1
0.030 GeneticVariation BEFREE Hasegawa et al reported that G229D mutation in KCNQ1 underlies atrial fibrillation due to significant shortening of action potential duration (APD) in atrial cells. 29488358

2018
dbSNP: rs199472708
rs199472708
KCNQ1
0.030 GeneticVariation BEFREE Computational simulations of the effects of the G229D KCNQ1 mutation on human atrial fibrillation. 26922794

2016
dbSNP: rs199472708
rs199472708
KCNQ1
0.030 GeneticVariation BEFREE A novel KCNQ1-G229D mutation identified in a juvenile-onset AF patient altered the IKs activity and kinetics, thereby increasing the arrhythmogenicity to AF. 24096004

2014