Disease: Atrial Fibrillation ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs147750704
rs147750704
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C0004238
Disease:
Atrial Fibrillation 		0.020 GeneticVariation BEFREE The aim of this simulation study was to identify at cell and tissue levels' mechanisms by which increased I(K1) facilitates and perpetuates AF.The Courtemanche et al. human atrial cell action potential (AP) model was modified to incorporate reported changes in I(K1) induced by the Kir2.1 V93I mutation in both heterozygous (Het) and homozygous (Hom) mutant forms. 19041665 2009
dbSNP: rs147750704
rs147750704
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C0004238
Disease:
Atrial Fibrillation 		0.020 GeneticVariation BEFREE Kir2.1 V93I mutation may play a role in initiating and/or maintaining AF by increasing the activity of the inward rectifier K(+) channel. 15922306 2005
dbSNP: rs786205817
rs786205817
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
CUI: C0004238
Disease:
Atrial Fibrillation 		0.010 GeneticVariation BEFREE Numerical experiments predict that, in addition to the short QT interval, absence of inward rectification in the E299V mutation should result in atrial fibrillation. 23440193 2013