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: rs104894568
rs104894568
G6PC
0.925 0.080 17 42907552 missense variant G/A snv 7.0E-06
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
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: rs1411037881
rs1411037881
G6PC
1.000 0.080 17 42909302 splice acceptor variant G/A snv 7.0E-06
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
dbSNP: rs1457925404
rs1457925404
G6PC
1.000 0.080 17 42911059 stop gained G/A;C snv 7.0E-06
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
dbSNP: rs1485038937
rs1485038937
G6PC
1.000 0.080 17 42909416 stop gained C/G snv 4.0E-06
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
dbSNP: rs1555558920
rs1555558920
G6PC
1.000 0.080 17 42900926 frameshift variant -/TACCTCCAGGTGAATT delins
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
dbSNP: rs1555559741
rs1555559741
G6PC
1.000 0.080 17 42907563 stop gained C/A snv
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
dbSNP: rs1555560140
rs1555560140
G6PC
1.000 0.080 17 42911083 stop gained G/A snv
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
dbSNP: rs1555560185
rs1555560185
G6PC
1.000 0.080 17 42911304 frameshift variant -/GT ins
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
dbSNP: rs1567705064
rs1567705064
G6PC
1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del
CUI: C4476869
Disease: Elevated gamma-glutamyltransferase activity
Elevated gamma-glutamyltransferase activity 		0.700 0
dbSNP: rs1567705064
rs1567705064
G6PC
1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs1567705064
rs1567705064
G6PC
1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		0.700 0
dbSNP: rs1567705064
rs1567705064
G6PC
1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del
CUI: C0332601
Disease: Cushingoid facies
Cushingoid facies 		0.700 0
dbSNP: rs1567705064
rs1567705064
G6PC
1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		0.700 0
dbSNP: rs1567705064
rs1567705064
G6PC
1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del
CUI: C1314665
Disease: Serum alkaline phosphatase raised
Serum alkaline phosphatase raised 		0.700 0