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: rs80338672
rs80338672
GBE1
0.925 0.080 3 81578000 missense variant G/A snv 3.7E-05 7.0E-06
CUI: C0017923
Disease: Glycogen Storage Disease Type IV
Glycogen Storage Disease Type IV 		0.700 0
dbSNP: rs80338672
rs80338672
GBE1
0.925 0.080 3 81578000 missense variant G/A snv 3.7E-05 7.0E-06
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic 		0.700 0