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: rs121909090
rs121909090 		0.882 0.120 19 10793832 missense variant C/T snv 7.0E-06
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.710 1.000 1 2014 2014