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: rs1800307
rs1800307
GAA
0.925 0.120 17 80112072 missense variant G/A snv 1.8E-02 7.1E-03
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.030 1.000 3 2008 2019
dbSNP: rs121907942
rs121907942
GAA
0.882 0.120 17 80111023 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.020 1.000 2 1994 2014
dbSNP: rs1800309
rs1800309
GAA
0.882 0.160 17 80113242 missense variant G/A;C snv 5.6E-02; 4.4E-06
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.020 1.000 2 2008 2011
dbSNP: rs765718882
rs765718882
GAA
0.925 0.120 17 80118668 stop gained G/T snv 2.0E-05 7.0E-06
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.020 1.000 2 2006 2019
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
dbSNP: rs1470247194
rs1470247194
MGAM
0.925 0.120 7 142052790 missense variant A/G snv
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 2019 2019
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
dbSNP: rs28940868
rs28940868
GAA
0.851 0.120 17 80112922 missense variant C/A;T snv 1.2E-04; 8.2E-06
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 1993 1993
dbSNP: rs374569672
rs374569672
GAA
0.925 0.120 17 80105866 missense variant G/A snv 7.7E-04 1.7E-04
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 2018 2018
dbSNP: rs540161721
rs540161721
MGAM
0.925 0.120 7 142021035 synonymous variant T/C snv 7.6E-05 3.5E-05
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 2019 2019
dbSNP: rs551975446
rs551975446
SI
0.925 0.120 3 165043125 missense variant G/C snv 4.8E-05
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 1994 1994
dbSNP: rs564758226
rs564758226
GAA
0.925 0.120 17 80105096 synonymous variant C/T snv 5.4E-05 4.9E-05
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 2019 2019
dbSNP: rs749529161
rs749529161
GAA
0.925 0.120 17 80112645 stop gained C/G;T snv 4.1E-06; 1.2E-05
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 2019 2019
dbSNP: rs757700700
rs757700700
GAA
0.925 0.120 17 80105872 missense variant C/T snv 2.1E-05 1.4E-05
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 2003 2003
dbSNP: rs776948121
rs776948121
GAA
0.925 0.120 17 80112928 missense variant C/G;T snv 1.2E-05
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 1994 1994
dbSNP: rs782738646
rs782738646
MGAM
0.882 0.120 7 142034817 missense variant G/T snv 1.2E-05
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		0.010 1.000 1 1993 1993