rs1273246817, RYR2

N. diseases: 3
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
0.010 GeneticVariation BEFREE We conclude that the S4153R mutation is a gain-of-function RYR2 mutation associated with a clinical phenotype characterized by both CPVT and atrial fibrillation. 23498838 2013