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: rs750470654
rs750470654 		1.000 0.080 17 42909365 missense variant G/A snv 8.0E-06 2.1E-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 0.710 1.000 21 1994 2007
dbSNP: rs373345919
rs373345919 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 8 1999 2016
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: rs1801175
rs1801175 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 3 1993 2004
dbSNP: rs1801175
rs1801175 		0.807 0.240 17 42903947 missense variant C/T snv 5.7E-04 3.4E-04
CUI: C0017920
Disease: Glycogen Storage Disease Type I
Glycogen Storage Disease Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 2 2007 2014
dbSNP: rs1801176
rs1801176 		0.925 0.080 17 42903948 missense variant G/A snv 4.4E-05 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 0.710 1.000 2 2000 2014
dbSNP: rs1801175
rs1801175 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 23 1993 2015
dbSNP: rs104894565
rs104894565 		0.925 0.080 17 42900989 missense variant A/G;T snv 8.0E-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: 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: rs104894567
rs104894567 		0.925 0.080 17 42904028 missense variant G/A snv 6.4E-05 3.5E-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 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: rs1250172816
rs1250172816 		1.000 0.080 17 42900890 missense variant T/G snv 4.0E-06 2.1E-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 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: rs367727229
rs367727229 		0.925 0.080 17 42911364 missense variant G/A;T snv 5.2E-05; 1.2E-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 21 1994 2014
dbSNP: rs387906505
rs387906505 		0.925 0.080 17 42911374 missense variant T/A snv 2.8E-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 21 1994 2014
dbSNP: rs80356482
rs80356482 		0.851 0.160 17 42909418 missense variant G/A;C snv 1.6E-05; 5.2E-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 21 1994 2014
dbSNP: rs80356483
rs80356483 		0.925 0.080 17 42911161 missense variant G/T snv 8.0E-06 2.1E-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 21 1994 2014
dbSNP: rs104894563
rs104894563 		0.925 0.080 17 42911235 missense variant C/T snv 1.2E-05 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: 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: rs1401928680
rs1401928680 		1.000 0.080 17 42907538 missense variant A/G;T snv 4.0E-06; 4.0E-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: rs1410392732
rs1410392732 		1.000 0.080 17 42911016 missense variant G/A snv 4.0E-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