Gene: KCNQ1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs120074192
rs120074192
KCNQ1
0.050 GeneticVariation BEFREE The KCNQ1 S140G mutation, which is involved in I<sub>Ks</sub> current, affects atrial fibrillation. 30108508

2018
dbSNP: rs120074192
rs120074192
KCNQ1
0.050 GeneticVariation BEFREE Functional analysis has shown that the missense gain-in-function KCNQ1 S140G mutation associated with familial atrial fibrillation produces an increase of the slow delayed rectifier potassium current (I(Ks)). 22508963

2012
dbSNP: rs120074192
rs120074192
KCNQ1
0.050 GeneticVariation BEFREE Two mutations (S140G and V141M) that cause familial atrial fibrillation (AF) are located on adjacent residues in the first membrane-spanning domain of KCNQ1, S1. 22250012

2012
dbSNP: rs120074192
rs120074192
KCNQ1
0.050 GeneticVariation BEFREE Two gain of function mutations in KCNQ1 subunits (S140G and V141M) have been associated with atrial fibrillation (AF). 18599533

2008
dbSNP: rs120074192
rs120074192
KCNQ1
0.050 GeneticVariation BEFREE Thus, the S140G mutation is likely to initiate and maintain AF by reducing action potential duration and effective refractory period in atrial myocytes. 12522251

2003
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
dbSNP: rs199472687
rs199472687
KCNQ1
0.020 GeneticVariation BEFREE Two mutations (S140G and V141M) that cause familial atrial fibrillation (AF) are located on adjacent residues in the first membrane-spanning domain of KCNQ1, S1. 22250012

2012
dbSNP: rs199472687
rs199472687
KCNQ1
0.020 GeneticVariation BEFREE Two gain of function mutations in KCNQ1 subunits (S140G and V141M) have been associated with atrial fibrillation (AF). 18599533

2008
dbSNP: rs75813654
rs75813654
KCNQ1
0.010 GeneticVariation BEFREE These conditions may contribute to the propensity to AF found in patients carrying the p.Met207Val variant. 30558760

2019
dbSNP: rs199956744
rs199956744
KCNQ1
0.010 GeneticVariation BEFREE Also, simulations of atrial excitation predicted that V241F results in extreme shortening of action potential duration, possibly resulting in AF. 23989646

2014
dbSNP: rs199472709
rs199472709
KCNQ1
0.010 GeneticVariation BEFREE The R231H variant causes a high penetrance for interfamilial early-onset AF. 23350853

2013
dbSNP: rs199473457
rs199473457
KCNQ1
0.010 GeneticVariation BEFREE R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation. 20850564

2011
dbSNP: rs199472689
rs199472689
KCNQ1
0.010 GeneticVariation BEFREE KCNQ1 mutation Q147R is associated with atrial fibrillation and prolonged QT interval. 17997361

2007
dbSNP: rs199473444
rs199473444
KCNQ1
0.010 GeneticVariation BEFREE These data suggest that the R14C KCNQ1 mutation alone is insufficient to cause AF. 17276182

2007