Source: CLINVAR

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: rs747610090
rs747610090
GAA
1.000 0.120 17 80108818 missense variant T/A snv 2.8E-05
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.700 1.000 10 2006 2017
dbSNP: rs747610090
rs747610090
GAA
1.000 0.120 17 80108818 missense variant T/A snv 2.8E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 8 2006 2018