RYR2, ryanodine receptor 2, 6262

N. diseases: 160; N. variants: 116
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs200236750
rs200236750
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C1858430
Disease:
Death in infancy
T 0.700 CausalMutation CLINVAR Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. 27435932 2016