Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs192044702
rs192044702
GBE1
0.882 0.120 3 81648854 splice donor variant A/G snv 8.9E-04 7.7E-04
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		0.700 1.000 10 1998 2017
dbSNP: rs192044702
rs192044702
GBE1
0.882 0.120 3 81648854 splice donor variant A/G snv 8.9E-04 7.7E-04
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic 		0.700 1.000 7 1998 2016
dbSNP: rs192044702
rs192044702
GBE1
0.882 0.120 3 81648854 splice donor variant A/G snv 8.9E-04 7.7E-04
CUI: C1849722
Disease: Polyglucosan Body Disease, Adult Form
Polyglucosan Body Disease, Adult Form 		0.700 0