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: rs80338671
rs80338671
0.756 0.143 3 81642787 missense variant T/C,G snp 4.5E-04; 3.2E-04 2.9E-04
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.800 2 1996 2017
dbSNP: rs137852887
rs137852887
0.769 0.143 3 81646403 missense variant A/T snp 3.2E-05
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.800 1 1996 1996
dbSNP: rs80338672
rs80338672
0.769 0.143 3 81578000 missense variant G/A snp 3.7E-05
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.800 1 1996 1996
dbSNP: rs137852886
rs137852886
0.769 0.143 3 81648876 missense variant A/G snp 4.4E-06
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.700 1 1996 1996
dbSNP: rs137852889
rs137852889
0.769 0.143 3 81537080 missense variant T/C snp
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.700 1 2005 2005
dbSNP: rs137852891
rs137852891
0.769 0.143 3 81535246 missense variant T/C snp 4.0E-06
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.700 1 2005 2005
dbSNP: rs80338673
rs80338673
0.756 0.143 3 81577972 missense variant C/T snp 1.6E-05 3.2E-05
CUI: C1856301
Disease: GSD IV, Classic Hepatic
GSD IV, Classic Hepatic
0.700 0