Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587783595
rs587783595
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		A 0.800 CausalMutation CLINVAR Mild functional differences of dynamin 2 mutations associated to centronuclear myopathy and Charcot-Marie Tooth peripheral neuropathy. 22096584

2011
dbSNP: rs587783595
rs587783595
DNM2
CUI: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1 		A 0.800 CausalMutation CLINVAR Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy. 20227276

2010