DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Myofibrillar 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: rs60798368
rs60798368 		0.925 0.160 2 219418508 missense variant C/T snv 7.0E-06
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0