rs118203964, AGL

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.
Glycogen Storage Disease IIIA
CUI: C1968739
Disease: Glycogen Storage Disease IIIA
13 0.882 0.080 1 99916492 missense variant G/C snv 0.710 1.000 1 1999 1999
Glycogen Storage Disease Type III
CUI: C0017922
Disease: Glycogen Storage Disease Type III
125 0.882 0.080 1 99916492 missense variant G/C snv 0.700 0
GLYCOGEN STORAGE DISEASE, TYPE IIIa
CUI: C3695007
Disease: GLYCOGEN STORAGE DISEASE, TYPE IIIa
1 0.882 0.080 1 99916492 missense variant G/C snv 0.010 1.000 1 1999 1999