Source: ALL

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: rs386834236
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 17 1989 2017
dbSNP: rs1055945806
rs1055945806
GAA
1.000 0.120 17 80104552 splice region variant C/A;T snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 2 2008 2009
dbSNP: rs1555598460
rs1555598460
GAA
1.000 0.120 17 80104554 splice acceptor variant G/C snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 0
dbSNP: rs786204467
rs786204467
GAA
1.000 0.120 17 80104587 start lost A/G snv 7.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 1 2012 2012
dbSNP: rs1555598544
rs1555598544
GAA
1.000 0.120 17 80104641 frameshift variant G/- del
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 0
dbSNP: rs767409395
rs767409395
GAA
1.000 0.120 17 80104704 stop gained C/T snv 1.2E-05 7.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 4 1995 2013
dbSNP: rs777215354
rs777215354
GAA
1.000 0.120 17 80104722 missense variant T/C snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 20 1991 2010
dbSNP: rs1057516251
rs1057516251
GAA
1.000 0.120 17 80104755 stop gained C/T snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 0
dbSNP: rs201185475
rs201185475
GAA
1.000 0.120 17 80104758 stop gained C/T snv 7.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 1 1999 1999
dbSNP: rs1057517165
rs1057517165
GAA
1.000 0.120 17 80104816 frameshift variant CCACACAGTGC/- delins
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 2 2007 2009
dbSNP: rs1555598687
rs1555598687
GAA
1.000 0.120 17 80104827 stop gained C/T snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 1 2014 2014
dbSNP: rs761317813
rs761317813
GAA
1.000 0.120 17 80104838 frameshift variant C/-;CC delins
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 3 1998 2011
dbSNP: rs1057516503
rs1057516503
GAA
1.000 0.120 17 80104867 frameshift variant CT/- del
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 0
dbSNP: rs398123174
rs398123174
GAA
1.000 0.120 17 80104893 missense variant T/G snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 7 2004 2018
dbSNP: rs1555598796
rs1555598796
GAA
1.000 0.120 17 80104928 frameshift variant G/- del
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 0
dbSNP: rs786204614
rs786204614
GAA
1.000 0.120 17 80104929 stop gained C/T snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 3 1993 2007
dbSNP: rs1555598800
rs1555598800
GAA
1.000 0.120 17 80104938 stop gained C/T snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 1 2012 2012
dbSNP: rs786204661
rs786204661
GAA
1.000 0.120 17 80104951 frameshift variant T/- del 7.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 1 2011 2011
dbSNP: rs1555598824
rs1555598824
GAA
1.000 0.120 17 80104962 frameshift variant T/- del
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 0
dbSNP: rs1207988953
rs1207988953
GAA
1.000 0.120 17 80104964 frameshift variant TG/- delins
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 1 2008 2008
dbSNP: rs1057517381
rs1057517381
GAA
1.000 0.120 17 80104977 frameshift variant C/- delins
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 0
dbSNP: rs1555598869
rs1555598869
GAA
1.000 0.120 17 80105023 frameshift variant T/- del
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 1 2011 2011
dbSNP: rs1555598880
rs1555598880
GAA
1.000 0.120 17 80105032 frameshift variant -/G delins
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 0
dbSNP: rs1057517320
rs1057517320
GAA
1.000 0.120 17 80105053 frameshift variant C/- delins
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 0
dbSNP: rs564758226
rs564758226
GAA
0.925 0.120 17 80105096 synonymous variant C/T snv 5.4E-05 4.9E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 1.000 1 2019 2019