G6PC, glucose-6-phosphatase catalytic subunit, 2538

N. diseases: 132; N. variants: 61
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894566
rs104894566 		0.925 0.080 17 42901105 missense variant T/C snv
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 21 1994 2014
dbSNP: rs104894568
rs104894568 		0.925 0.080 17 42907552 missense variant G/A snv 7.0E-06
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 21 1994 2014
dbSNP: rs104894569
rs104894569 		0.925 0.080 17 42909407 stop gained G/A;T snv
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 21 1994 2014
dbSNP: rs104894571
rs104894571 		0.925 0.080 17 42909353 missense variant T/C;G snv
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 21 1994 2014
dbSNP: rs1555558914
rs1555558914 		1.000 0.080 17 42900923 missense variant C/G snv
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 21 1994 2014
dbSNP: rs1555560149
rs1555560149 		1.000 0.080 17 42911144 missense variant C/A snv
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 21 1994 2014
dbSNP: rs1203167759
rs1203167759 		1.000 0.080 17 42904032 missense variant C/T snv 7.0E-06
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1994 2004
dbSNP: rs1399520060
rs1399520060 		1.000 0.080 17 42911318 missense variant C/A snv 1.4E-05
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1994 2004
dbSNP: rs80356488
rs80356488 		1.000 0.080 17 42907558 frameshift variant -/TA delins
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 11 1993 2017
dbSNP: rs80356479
rs80356479 		1.000 0.080 17 42900953 frameshift variant C/- delins
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 10 1995 2017
dbSNP: rs80356486
rs80356486 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 9 1995 2004
dbSNP: rs104894566
rs104894566 		0.925 0.080 17 42901105 missense variant T/C snv
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 8 1996 2013
dbSNP: rs1057517008
rs1057517008 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 4 1999 2004
dbSNP: rs104894571
rs104894571 		0.925 0.080 17 42909353 missense variant T/C;G snv
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1995 1995
dbSNP: rs1057516674
rs1057516674 		0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2001 2001
dbSNP: rs1057517008
rs1057517008 		0.925 0.080 17 42901037 missense variant A/C snv 7.0E-06
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1555559279
rs1555559279 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2000 2000
dbSNP: rs1555559991
rs1555559991 		1.000 0.080 17 42909372 stop gained C/A snv
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1999 1999
dbSNP: rs104894568
rs104894568 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs104894569
rs104894569 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs104894571
rs104894571 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516367
rs1057516367 		1.000 0.080 17 42900955 stop gained C/T snv
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516630
rs1057516630 		1.000 0.080 17 42909354 frameshift variant -/T delins
CUI: C2919796
Disease: Glycogen storage disease type Ia
Glycogen storage disease type Ia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1057516674
rs1057516674 		0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 0
dbSNP: rs1057516674
rs1057516674 		0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C0002871
Disease: Anemia
Anemia 		Hemic and Lymphatic Diseases 0.700 0