GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Glycogen storage disease type II ×
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: rs142752477
rs142752477 		1.000 0.120 17 80108537 missense variant G/A;T snv 3.2E-05; 8.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 23 1991 2014
dbSNP: rs121907940
rs121907940 		1.000 0.120 17 80107837 missense variant T/C;G snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 21 1991 2014
dbSNP: rs750030887
rs750030887 		1.000 0.120 17 80108305 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 8.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 21 1991 2010
dbSNP: rs779556619
rs779556619 		1.000 0.120 17 80112001 missense variant T/C snv 3.2E-05 3.5E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 16 2004 2015
dbSNP: rs543300039
rs543300039 		1.000 0.120 17 80107866 missense variant G/A snv 2.9E-05 2.8E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 14 1998 2017
dbSNP: rs752921215
rs752921215 		1.000 0.120 17 80117015 stop gained G/A;C;T snv 4.0E-06; 6.8E-05; 7.2E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 12 1998 2018
dbSNP: rs549029029
rs549029029 		1.000 0.120 17 80112666 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 11 1999 2014
dbSNP: rs377544304
rs377544304 		1.000 0.120 17 80112622 missense variant G/A;C snv 1.2E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 9 1999 2017
dbSNP: rs757111744
rs757111744 		1.000 0.120 17 80113001 missense variant C/T snv 8.3E-06 1.4E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 9 1998 2014
dbSNP: rs914396317
rs914396317 		1.000 0.120 17 80112680 missense variant C/G;T snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 9 2003 2014
dbSNP: rs374143224
rs374143224 		1.000 0.120 17 80112966 missense variant G/A snv 2.5E-05 9.1E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 8 2003 2014
dbSNP: rs398123169
rs398123169 		1.000 0.120 17 80110754 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 8 2007 2014
dbSNP: rs766074609
rs766074609 		1.000 0.120 17 80108398 missense variant T/C snv 8.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 8 2004 2014
dbSNP: rs1057516600
rs1057516600 		1.000 0.120 17 80107816 missense variant A/G snv 8.1E-06 1.4E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 1999 2015
dbSNP: rs398123172
rs398123172 		1.000 0.120 17 80113282 missense variant G/A;C;T snv 5.4E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2007 2017
dbSNP: rs398123174
rs398123174 		1.000 0.120 17 80104893 missense variant T/G snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 7 2004 2018
dbSNP: rs991082382
rs991082382 		1.000 0.120 17 80112081 missense variant G/A;C snv 4.0E-06 2.1E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 6 2004 2014
dbSNP: rs892129065
rs892129065 		1.000 0.120 17 80110953 missense variant C/A;G;T snv 8.0E-06 1.4E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 5 2007 2016
dbSNP: rs1414146587
rs1414146587 		1.000 0.120 17 80112892 missense variant C/A;T snv 4.1E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 3 2009 2014
dbSNP: rs886042086
rs886042086 		1.000 0.120 17 80107717 missense variant C/T snv 4.9E-06 7.8E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 3 2008 2012
dbSNP: rs730880022
rs730880022 		1.000 0.120 17 80108338 missense variant G/A snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.800 1.000 1 2014 2014
dbSNP: rs121907942
rs121907942 		0.882 0.120 17 80111023 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.720 1.000 22 1991 2014
dbSNP: rs765718882
rs765718882 		0.925 0.120 17 80118668 stop gained G/T snv 2.0E-05 7.0E-06
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.720 1.000 9 2006 2019
dbSNP: rs1800312
rs1800312 		0.925 0.120 17 80117016 stop gained G/A;C snv 8.0E-06; 3.1E-04
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.710 1.000 13 1994 2017
dbSNP: rs121907944
rs121907944 		1.000 0.120 17 80107574 missense variant C/A;T snv 4.0E-06; 2.0E-05
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.700 1.000 21 1991 2014