rs137852886, GBE1

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 Type IV
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
21 0.925 0.080 3 81648876 missense variant A/G snv 4.4E-06 2.1E-05 0.800 1.000 4 1996 2015
ADULT POLYGLUCOSAN BODY NEUROPATHY
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
5 0.925 0.080 3 81648876 missense variant A/G snv 4.4E-06 2.1E-05 0.700 0
GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
CUI: C4017114
Disease: GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
2 0.925 0.080 3 81648876 missense variant A/G snv 4.4E-06 2.1E-05 0.700 0