rs143570936, SGCA

N. diseases: 5
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Alpha-Sarcoglycanopathies
CUI: C2936332
Disease: Alpha-Sarcoglycanopathies
58 0.925 0.200 17 50169246 missense variant G/A snv 1.1E-04 1.8E-04 0.800 1.000 20 1994 2018
Sarcoglycanopathies
CUI: C2936331
Disease: Sarcoglycanopathies
3 0.925 0.200 17 50169246 missense variant G/A snv 1.1E-04 1.8E-04 0.700 1.000 9 1995 2014
Creatine phosphokinase serum increased
43 0.925 0.200 17 50169246 missense variant G/A snv 1.1E-04 1.8E-04 0.700 0
Proximal muscle weakness
CUI: C0221629
Disease: Proximal muscle weakness
11 0.925 0.200 17 50169246 missense variant G/A snv 1.1E-04 1.8E-04 0.700 0
Muscular Dystrophies, Limb-Girdle
CUI: C0686353
Disease: Muscular Dystrophies, Limb-Girdle
37 0.925 0.200 17 50169246 missense variant G/A snv 1.1E-04 1.8E-04 0.010 1.000 1 2014 2014