rs120074192, KCNQ1

N. diseases: 10
Disease: Atrial Fibrillation ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.050 GeneticVariation BEFREE The KCNQ1 S140G mutation, which is involved in I<sub>Ks</sub> current, affects atrial fibrillation. 30108508 2018
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
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
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
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
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
0.050 GeneticVariation BEFREE Two gain of function mutations in KCNQ1 subunits (S140G and V141M) have been associated with atrial fibrillation (AF). 18599533 2008
Atrial Fibrillation
CUI: C0004238
Disease: Atrial Fibrillation
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