Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192162
rs118192162
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.720 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146

2012
dbSNP: rs118192162
rs118192162
RYR1
CUI: C0751951
Disease: Central Core Myopathy (disorder)
Central Core Myopathy (disorder) 		0.720 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361

2012