SGCA, sarcoglycan alpha, 6442

N. diseases: 111; N. variants: 57
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: rs143570936
rs143570936
0.925 0.200 17 50169246 missense variant G/A snv 1.1E-04 1.8E-04
CUI: C0221629
Disease: Proximal muscle weakness
Proximal muscle weakness
Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0