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: rs373345919
rs373345919
G6PC
0.882 0.080 17 42909364 stop gained C/T snv 2.8E-05 2.8E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.710 1.000 7 1999 2016
dbSNP: rs1057517008
rs1057517008
G6PC
0.925 0.080 17 42901037 missense variant A/C snv 7.0E-06
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.710 1.000 4 1999 2004
dbSNP: rs1801175
rs1801175
G6PC
0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		0.710 1.000 2 1993 2004
dbSNP: rs1801175
rs1801175
G6PC
0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 23 1993 2015
dbSNP: rs80356482
rs80356482
G6PC
0.851 0.160 17 42909418 missense variant G/A;C snv 1.6E-05; 5.2E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 11 1995 2014
dbSNP: rs80356483
rs80356483
G6PC
0.925 0.080 17 42911161 missense variant G/T snv 8.0E-06 2.1E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 11 1995 2017
dbSNP: rs80356488
rs80356488
G6PC
1.000 0.080 17 42907558 frameshift variant -/TA delins
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 11 1993 2017
dbSNP: rs104894565
rs104894565
G6PC
0.925 0.080 17 42900989 missense variant A/G;T snv 8.0E-06
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 10 1994 2005
dbSNP: rs80356479
rs80356479
G6PC
1.000 0.080 17 42900953 frameshift variant C/- delins
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 10 1995 2017
dbSNP: rs80356486
rs80356486
G6PC
1.000 0.080 17 42911330 inframe deletion TCT/- delins 2.1E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 9 1995 2004
dbSNP: rs104894566
rs104894566
G6PC
0.925 0.080 17 42901105 missense variant T/C snv
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 8 1996 2013
dbSNP: rs1801176
rs1801176
G6PC
0.925 0.080 17 42903948 missense variant G/A snv 4.4E-05 1.4E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 8 1995 2008
dbSNP: rs80356484
rs80356484
G6PC
1.000 0.080 17 42911000 synonymous variant G/A;T snv 4.0E-06; 8.4E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 8 1995 2013
dbSNP: rs104894563
rs104894563
G6PC
0.925 0.080 17 42911235 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 7 1993 2008
dbSNP: rs104894567
rs104894567
G6PC
0.925 0.080 17 42904028 missense variant G/A snv 6.4E-05 3.5E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 6 2002 2015
dbSNP: rs764920787
rs764920787
G6PC
1.000 0.080 17 42901065 stop gained G/A snv 4.0E-06 4.9E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 6 1995 2013
dbSNP: rs367727229
rs367727229
G6PC
0.925 0.080 17 42911364 missense variant G/A;T snv 5.2E-05; 1.2E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 4 1999 2002
dbSNP: rs387906505
rs387906505
G6PC
0.925 0.080 17 42911374 missense variant T/A snv 2.8E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 4 1996 2015
dbSNP: rs1189630738
rs1189630738
G6PC
0.925 0.080 17 42909323 stop gained G/A;T snv 4.0E-06; 4.0E-06
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 3 2002 2017
dbSNP: rs80356487
rs80356487
G6PC
1.000 0.080 17 42911391 stop gained C/G;T snv 4.0E-06; 2.0E-04
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 3 1994 1996
dbSNP: rs80356485
rs80356485
G6PC
1.000 0.080 17 42911076 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 2 2001 2002
dbSNP: rs1057516674
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 1 2001 2001
dbSNP: rs1555559279
rs1555559279
G6PC
1.000 0.080 17 42903930 splice acceptor variant G/A snv
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 1 2000 2000
dbSNP: rs1555559991
rs1555559991
G6PC
1.000 0.080 17 42909372 stop gained C/A snv
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 1 1999 1999
dbSNP: rs748363083
rs748363083
G6PC
1.000 0.080 17 42903955 stop gained C/A;T snv 4.0E-06 7.0E-06
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 1 2017 2017