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: 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: 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
dbSNP: rs1221948995
rs1221948995 		1.000 0.120 17 80118752 missense variant 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 0.700 1.000 21 1991 2014
dbSNP: rs150868652
rs150868652 		1.000 0.120 17 80108812 missense variant G/A snv 6.5E-05 2.2E-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 0.700 1.000 21 1991 2014
dbSNP: rs747150965
rs747150965 		1.000 0.120 17 80112015 missense variant A/G;T 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 0.700 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: rs752002666
rs752002666 		1.000 0.120 17 80108542 missense variant G/A;C;T snv 8.0E-06; 4.0E-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 0.700 1.000 21 1991 2014
dbSNP: rs753505203
rs753505203 		1.000 0.120 17 80112619 missense variant C/A 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 0.700 1.000 21 1991 2014
dbSNP: rs764622267
rs764622267 		0.925 0.120 17 80107718 missense variant C/G;T snv 5.1E-06; 5.1E-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 0.700 1.000 21 1991 2014
dbSNP: rs765362308
rs765362308 		1.000 0.120 17 80112056 missense variant C/G;T snv 3.6E-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
dbSNP: rs776008078
rs776008078 		1.000 0.120 17 80108603 missense variant C/G;T snv 4.0E-06; 2.4E-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 0.700 1.000 21 1991 2014
dbSNP: rs121907941
rs121907941 		0.925 0.120 17 80110974 missense variant TC/GT mnv
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 20 1991 2010
dbSNP: rs1245412108
rs1245412108 		1.000 0.120 17 80119318 missense variant T/A snv 4.0E-06 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 0.700 1.000 20 1991 2010
dbSNP: rs1393386120
rs1393386120 		1.000 0.120 17 80112643 missense variant G/A snv 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 0.700 1.000 20 1991 2010
dbSNP: rs141533320
rs141533320 		1.000 0.120 17 80108712 missense variant G/A snv 3.2E-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 0.700 1.000 20 1991 2010
dbSNP: rs144016984
rs144016984 		1.000 0.120 17 80117075 missense variant A/C;G snv 4.0E-06; 2.4E-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 0.700 1.000 20 1991 2010
dbSNP: rs1448515860
rs1448515860 		1.000 0.120 17 80112930 missense variant G/A snv 4.1E-06 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 0.700 1.000 20 1991 2010
dbSNP: rs202095215
rs202095215 		1.000 0.120 17 80108337 missense variant G/A snv 4.0E-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 0.700 1.000 20 1991 2010
dbSNP: rs757617999
rs757617999 		1.000 0.120 17 80112899 missense variant G/A;T 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 0.700 1.000 20 1991 2010
dbSNP: rs764670084
rs764670084 		0.925 0.120 17 80112621 missense variant C/T 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 0.700 1.000 20 1991 2010
dbSNP: rs768397968
rs768397968 		1.000 0.120 17 80112659 missense variant C/G;T snv 4.1E-06; 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 0.700 1.000 20 1991 2010
dbSNP: rs777215354
rs777215354 		1.000 0.120 17 80104722 missense variant T/C 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 0.700 1.000 20 1991 2010
dbSNP: rs781484283
rs781484283 		1.000 0.120 17 80112627 missense variant A/G snv 4.0E-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 0.700 1.000 20 1991 2010
dbSNP: rs386834236
rs386834236 		0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
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 17 1989 2017
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