Source: BEFREE

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: rs1800307
rs1800307
GAA
0.925 0.120 17 80112072 missense variant G/A snv 1.8E-02 7.1E-03
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.030 1.000 3 2008 2019
dbSNP: rs1800307
rs1800307
GAA
0.925 0.120 17 80112072 missense variant G/A snv 1.8E-02 7.1E-03
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.030 1.000 3 2008 2019