GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
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: rs1800309
rs1800309 		0.882 0.160 17 80113242 missense variant G/A;C snv 5.6E-02; 4.4E-06
CUI: C0917713
Disease: Becker Muscular Dystrophy
Becker Muscular Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018