DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: Myopathy, Centronuclear, Autosomal Dominant ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121909091
rs121909091 		0.851 0.120 19 10798543 missense variant C/T snv
CUI: C1834558
Disease: Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Centronuclear, Autosomal Dominant 		Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010