rs118192158, RYR1

N. diseases: 1
Disease: Central Core Myopathy (disorder) ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Central Core Myopathy (disorder)
CUI: C0751951
Disease: Central Core Myopathy (disorder)
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Multi-minicore disease. 22009146 2012
Central Core Myopathy (disorder)
CUI: C0751951
Disease: Central Core Myopathy (disorder)
0.800 GeneticVariation UNIPROT Clinical utility gene card for: Central core disease. 21989361 2012
Central Core Myopathy (disorder)
CUI: C0751951
Disease: Central Core Myopathy (disorder)
0.800 CausalMutation CLINVAR