DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
Disease: Becker Muscular Dystrophy ×
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: rs398123929
rs398123929 		0.882 0.160 X 32468509 stop gained G/A snv
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.700 0