MYH2, myosin heavy chain 2, 4620

N. diseases: 77; N. variants: 25
Disease: Inclusion body myopathy, 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: rs121434589
rs121434589 		0.851 0.200 17 10535137 missense variant C/T snv
CUI: C2931820
Disease: Inclusion body myopathy, autosomal dominant
Inclusion body myopathy, autosomal dominant 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012