rs80338671, GBE1

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.
Polyglucosan Body Disease, Adult Form
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
7 0.851 0.120 3 81642787 missense variant T/C;G snv 4.5E-04; 3.2E-04 0.720 1.000 2 1998 2015
Glycogen Storage Disease Type IV
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
21 0.851 0.120 3 81642787 missense variant T/C;G snv 4.5E-04; 3.2E-04 0.710 1.000 8 1996 2015
GSD IV, Classic Hepatic
CUI: C1856301
Disease: GSD IV, Classic Hepatic
8 0.851 0.120 3 81642787 missense variant T/C;G snv 4.5E-04; 3.2E-04 0.700 1.000 6 1996 2015
ADULT POLYGLUCOSAN BODY NEUROPATHY
CUI: C4017118
Disease: ADULT POLYGLUCOSAN BODY NEUROPATHY
5 0.851 0.120 3 81642787 missense variant T/C;G snv 4.5E-04; 3.2E-04 0.700 0
GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
CUI: C4017114
Disease: GLYCOGEN STORAGE DISEASE IV, NONPROGRESSIVE HEPATIC
2 0.851 0.120 3 81642787 missense variant T/C;G snv 4.5E-04; 3.2E-04 0.700 0