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.
GLYCOGEN STORAGE DISEASE IXa1
CUI: C3694531
Disease: GLYCOGEN STORAGE DISEASE IXa1
29 0.925 0.080 X 18893579 missense variant G/A snv 0.700 1.000 5 2011 2017
Glycogen storage disease, type IX
CUI: C0268147
Disease: Glycogen storage disease, type IX
4 0.925 0.080 X 18893579 missense variant G/A snv 0.010 1.000 1 2011 2011