RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516539
rs397516539
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		A 0.700 GeneticVariation CLINVAR Genetic background of catecholaminergic polymorphic ventricular tachycardia in Japan. 23595086 2013
dbSNP: rs397516539
rs397516539
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		A 0.700 GeneticVariation CLINVAR Ryanodine receptors: structure, expression, molecular details, and function in calcium release. 20961976 2010
dbSNP: rs397516539
rs397516539
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		A 0.700 GeneticVariation CLINVAR Crystal structures of the N-terminal domains of cardiac and skeletal muscle ryanodine receptors: insights into disease mutations. 19913485 2009
dbSNP: rs397516539
rs397516539
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		A 0.700 GeneticVariation CLINVAR The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. 19926015 2009
dbSNP: rs397516539
rs397516539
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		A 0.700 GeneticVariation CLINVAR "Crystal structure of type I ryanodine receptor amino-terminal beta-trefoil domain reveals a disease-associated mutation ""hot spot"" loop." 19541610 2009
dbSNP: rs397516539
rs397516539
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		A 0.700 GeneticVariation CLINVAR A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia. 16517285 2006