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: rs749529161
rs749529161
GAA
0.925 0.120 17 80112645 stop gained C/G;T snv 4.1E-06; 1.2E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 1.000 1 2019 2019
dbSNP: rs749529161
rs749529161
GAA
0.925 0.120 17 80112645 stop gained C/G;T snv 4.1E-06; 1.2E-05
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 2019 2019