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: rs1373714510
rs1373714510
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1631597
Disease:
VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1 (disorder) 		0.010 GeneticVariation BEFREE Dermal fibroblasts were obtained from a CPVT patient due to the M4109R heterozygous point RYR2 mutation and reprogrammed to generate the CPVT-hiPSCs. 22749309 2012