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: rs757700700
rs757700700
GAA
0.925 0.120 17 80105872 missense variant C/T snv 2.1E-05 1.4E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 1.000 1 2003 2014
dbSNP: rs757700700
rs757700700
GAA
0.925 0.120 17 80105872 missense variant C/T snv 2.1E-05 1.4E-05
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 2003 2003