Gene: RYR2 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500137
rs1060500137
RYR2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500142
rs1060500142
RYR2
T 0.700 CausalMutation CLINVAR Crystal structures of the N-terminal domains of cardiac and skeletal muscle ryanodine receptors: insights into disease mutations. 19913485

2009
dbSNP: rs1060500142
rs1060500142
RYR2
T 0.700 CausalMutation CLINVAR Abnormal termination of Ca2+ release is a common defect of RyR2 mutations associated with cardiomyopathies. 22374134

2012
dbSNP: rs1060500142
rs1060500142
RYR2
T 0.700 CausalMutation CLINVAR Juvenile sudden death in a family with polymorphic ventricular arrhythmias caused by a novel RyR2 gene mutation: evidence of specific morphological substrates. 16084945

2005
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. 11208676

2001
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhythmias and sudden death: early diagnosis of asymptomatic carriers. 12106942

2002
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. 15046073

2004
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. 11157710

2001
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. 15466642

2004
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT A novel RyR2 mutation in a 2-year-old baby presenting with atrial fibrillation, atrial flutter, and atrial ectopic tachycardia. 24793461

2014
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias. 15046072

2004
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT Structural insights into the human RyR2 N-terminal region involved in cardiac arrhythmias. 25372681

2014
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. 15544015

2004
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT Loss of luminal Ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death. 17984046

2007
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. 16188589

2005
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. 14571276

2003
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. 27733687

2016
dbSNP: rs1185619003
rs1185619003
RYR2
0.700 GeneticVariation UNIPROT Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. 12093772

2002
dbSNP: rs1188352725
rs1188352725
RYR2
0.700 GeneticVariation UNIPROT

dbSNP: rs1202962809
rs1202962809
RYR2
0.700 GeneticVariation UNIPROT Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. 11208676

2001
dbSNP: rs1202962809
rs1202962809
RYR2
0.700 GeneticVariation UNIPROT Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identification of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. 14571276

2003
dbSNP: rs1202962809
rs1202962809
RYR2
0.700 GeneticVariation UNIPROT Enhanced Cytosolic Ca2+ Activation Underlies a Common Defect of Central Domain Cardiac Ryanodine Receptor Mutations Linked to Arrhythmias. 27733687

2016
dbSNP: rs1202962809
rs1202962809
RYR2
0.700 GeneticVariation UNIPROT A novel RyR2 mutation in a 2-year-old baby presenting with atrial fibrillation, atrial flutter, and atrial ectopic tachycardia. 24793461

2014
dbSNP: rs1202962809
rs1202962809
RYR2
0.700 GeneticVariation UNIPROT Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. 15544015

2004
dbSNP: rs1202962809
rs1202962809
RYR2
0.700 GeneticVariation UNIPROT Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. 16188589

2005