DES, desmin, 1674

N. diseases: 330; N. variants: 63
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type ×
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: rs57965306
rs57965306 		0.925 0.160 2 219421365 missense variant G/A;C snv 2.8E-05
CUI: C1867005
Disease: Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 0