rs1800309, GAA

N. diseases: 3
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.
Generalized glycogen storage disease of infants
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
16 0.882 0.160 17 80113242 missense variant G/A;C snv 5.6E-02; 4.4E-06 0.020 1.000 2 2008 2011
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 0.882 0.160 17 80113242 missense variant G/A;C snv 5.6E-02; 4.4E-06 0.020 1.000 2 2008 2011
Becker Muscular Dystrophy
CUI: C0917713
Disease: Becker Muscular Dystrophy
34 0.882 0.160 17 80113242 missense variant G/A;C snv 5.6E-02; 4.4E-06 0.010 1.000 1 2018 2018