DNM2, dynamin 2, 1785

N. diseases: 178; N. variants: 30
Disease: Centronuclear myopathy ×
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: rs587783598
rs587783598 		0.925 0.080 19 10823886 missense variant C/G snv
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0