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: rs1800312
rs1800312
GAA
0.925 0.120 17 80117016 stop gained G/A;C snv 8.0E-06; 3.1E-04
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.710 1.000 1 1994 2017
dbSNP: rs1800312
rs1800312
GAA
0.925 0.120 17 80117016 stop gained G/A;C snv 8.0E-06; 3.1E-04
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 2008 2008