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: 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: 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: 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: 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: 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: 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: rs780226142
rs780226142
G6PC
1.000 0.080 17 42911321 stop gained C/A;T snv 2.0E-05
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 1.000 1 2013 2013
dbSNP: rs104894569
rs104894569
G6PC
0.925 0.080 17 42909407 stop gained G/A;T snv
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
dbSNP: rs104894571
rs104894571
G6PC
0.925 0.080 17 42909353 missense variant T/C;G snv
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
dbSNP: rs1057516367
rs1057516367
G6PC
1.000 0.080 17 42900955 stop gained C/T snv
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
dbSNP: rs1057516630
rs1057516630
G6PC
1.000 0.080 17 42909354 frameshift variant -/T delins
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
dbSNP: rs1057516674
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C0813230
Disease: Serum triglycerides increased
Serum triglycerides increased 		0.700 0
dbSNP: rs1057516674
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C0002871
Disease: Anemia
Anemia 		0.700 0
dbSNP: rs1057516674
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1057516674
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C0155210
Disease: Eyelid Xanthoma
Eyelid Xanthoma 		0.700 0
dbSNP: rs1057516858
rs1057516858
G6PC
1.000 0.080 17 42911207 frameshift variant G/- delins
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
dbSNP: rs1057517227
rs1057517227
G6PC
1.000 0.080 17 42901011 frameshift variant C/- delins
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
dbSNP: rs142917638
rs142917638
G6PC
1.000 0.080 17 42903958 stop gained G/A snv
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0