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: rs121907936
rs121907936
GAA
0.882 0.120 17 80107894 missense variant T/A;C snv 4.2E-05 5.6E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 1.000 1 1991 2018
dbSNP: rs121907936
rs121907936
GAA
0.882 0.120 17 80107894 missense variant T/A;C snv 4.2E-05 5.6E-05
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 1991 1991