Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908987
rs121908987
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
CUI: C0559106
Disease:
Ventricular preexcitation
0.020 GeneticVariation BEFREE Preexcitation associated with the R302Q mutation in PRKAG2 is associated with Mahaim fibers. 19808419 2008
dbSNP: rs121908987
rs121908987
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
CUI: C0559106
Disease:
Ventricular preexcitation
0.020 GeneticVariation BEFREE ECG recordings and intracardiac electrophysiology studies demonstrated the TG(R302Q) mice to have ventricular preexcitation (PR interval 10+/-2 versus 33+/-5 ms in TG(WT), P<0.05) and a prolonged QRS (20+/-5 versus 10+/-1 ms in TG(WT), P<0.05). 15611370 2005
dbSNP: rs121908990
rs121908990
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
CUI: C0559106
Disease:
Ventricular preexcitation
0.010 GeneticVariation BEFREE We identified a novel mutation (Arg531Gly) in the gamma-2 regulatory subunit (PRKAG2) of AMP-activated protein kinase (AMPK) to be responsible for a syndrome associated with ventricular preexcitation and early onset of atrial fibrillation and conduction disease. 11748095 2001