rs192044702, 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 0.882 0.120 3 81648854 splice donor variant A/G snv 8.9E-04 7.7E-04 0.700 1.000 10 1998 2017
GSD IV, Classic Hepatic
CUI: C1856301
Disease: GSD IV, Classic Hepatic
8 0.882 0.120 3 81648854 splice donor variant A/G snv 8.9E-04 7.7E-04 0.700 1.000 7 1998 2016
Polyglucosan Body Disease, Adult Form
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
7 0.882 0.120 3 81648854 splice donor variant A/G snv 8.9E-04 7.7E-04 0.700 0