RYR1, ryanodine receptor 1, 6261

N. diseases: 29; N. variants: 225
Disease: Central Core Myopathy (disorder) ×
Source: CURATED ×
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192146
rs118192146
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361 2012
dbSNP: rs118192146
rs118192146
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		0.800 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146 2012
dbSNP: rs118192146
rs118192146
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
CUI: C0751951
Disease:
Central Core Myopathy (disorder) 		G 0.800 CausalMutation CLINVAR