Source: CLINVAR

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: rs28940868
rs28940868
GAA
0.851 0.120 17 80112922 missense variant C/A;T snv 1.2E-04; 8.2E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 1.000 8 1991 2017
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 7 2003 2014
dbSNP: rs776948121
rs776948121
GAA
0.925 0.120 17 80112928 missense variant C/G;T snv 1.2E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.810 1.000 6 1994 2015
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 4 1991 2018
dbSNP: rs779556619
rs779556619
GAA
1.000 0.120 17 80112001 missense variant T/C snv 3.2E-05 3.5E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 15 2004 2015
dbSNP: rs368438393
rs368438393
GAA
1.000 0.120 17 80112920 missense variant G/A;C;T snv 8.3E-06; 8.3E-06; 8.3E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 13 1991 2015
dbSNP: rs543300039
rs543300039
GAA
1.000 0.120 17 80107866 missense variant G/A snv 2.9E-05 2.8E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 13 1998 2017
dbSNP: rs200856561
rs200856561
GAA
1.000 0.120 17 80107616 missense variant C/T snv 3.5E-04 1.6E-04
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 12 1991 2019
dbSNP: rs370950728
rs370950728
GAA
1.000 0.120 17 80105857 missense variant G/A snv 1.2E-05 6.3E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 12 1991 2014
dbSNP: rs577915581
rs577915581
GAA
1.000 0.120 17 80107625 missense variant C/T snv 2.1E-04 5.6E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 12 1991 2019
dbSNP: rs770610356
rs770610356
GAA
1.000 0.120 17 80108811 missense variant C/T snv 4.6E-06 3.5E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 12 1991 2015
dbSNP: rs752921215
rs752921215
GAA
1.000 0.120 17 80117015 stop gained G/A;C;T snv 4.0E-06; 6.8E-05; 7.2E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 11 1998 2018
dbSNP: rs778418246
rs778418246
GAA
1.000 0.120 17 80113002 missense variant G/A snv 2.1E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 11 1991 2017
dbSNP: rs121907937
rs121907937
GAA
0.925 0.120 17 80110950 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 10 1991 2014
dbSNP: rs121907938
rs121907938
GAA
0.925 0.120 17 80113350 missense variant C/A;T snv 3.9E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 10 1991 2017
dbSNP: rs201896815
rs201896815
GAA
1.000 0.120 17 80107648 missense variant G/A snv 8.0E-06 4.2E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 10 1991 2014
dbSNP: rs549029029
rs549029029
GAA
1.000 0.120 17 80112666 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 10 1999 2014
dbSNP: rs757111744
rs757111744
GAA
1.000 0.120 17 80113001 missense variant C/T snv 8.3E-06 1.4E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 9 1998 2014
dbSNP: rs772883420
rs772883420
GAA
1.000 0.120 17 80110730 missense variant T/A;C snv 1.6E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 9 1991 2017
dbSNP: rs121907945
rs121907945
GAA
0.925 0.120 17 80107818 missense variant G/A snv 1.6E-05 2.8E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 8 1991 2018
dbSNP: rs28937909
rs28937909
GAA
0.925 0.120 17 80112914 missense variant G/A;T snv 2.5E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 8 1991 2014
dbSNP: rs374143224
rs374143224
GAA
1.000 0.120 17 80112966 missense variant G/A snv 2.5E-05 9.1E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 8 2003 2014
dbSNP: rs377544304
rs377544304
GAA
1.000 0.120 17 80112622 missense variant G/A;C snv 1.2E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 8 1999 2017
dbSNP: rs536906561
rs536906561
GAA
1.000 0.120 17 80112929 missense variant G/A snv 5.4E-05 1.4E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 8 1991 2015
dbSNP: rs914396317
rs914396317
GAA
1.000 0.120 17 80112680 missense variant C/G;T snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.800 1.000 8 2003 2014