GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
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: rs386834236
rs386834236 		0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1988 2015
dbSNP: rs386834236
rs386834236 		0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 18 1988 2015
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: rs386834236
rs386834236 		0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 11 1994 2015
dbSNP: rs762260678
rs762260678 		1.000 0.120 17 80108467 intron variant T/G snv 1.6E-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 6 1997 2015
dbSNP: rs12450199
rs12450199 		17 80102793 intron variant A/C snv 0.34
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs386834236
rs386834236 		0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
CUI: C0026848
Disease: Myopathy
Myopathy 		Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs386834236
rs386834236 		0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03
CUI: C4016981
Disease: GLYCOGEN STORAGE DISEASE II, ADULT FORM
GLYCOGEN STORAGE DISEASE II, ADULT FORM 		0.700 0
dbSNP: rs140826989
rs140826989 		1.000 0.120 17 80110837 stop gained G/A snv 4.0E-06 4.2E-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 13 2004 2018
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: rs1800312
rs1800312 		0.925 0.120 17 80117016 stop gained G/A;C snv 8.0E-06; 3.1E-04
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 12 1994 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: rs121907943
rs121907943 		1.000 0.120 17 80118271 stop gained C/T snv 1.7E-04 6.2E-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 10 1993 2012
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: rs780321415
rs780321415 		1.000 0.120 17 80118319 stop gained C/A;T snv 2.7E-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 6 2007 2013
dbSNP: rs767409395
rs767409395 		1.000 0.120 17 80104704 stop gained C/T 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 0.700 1.000 4 1995 2013
dbSNP: rs200483245
rs200483245 		1.000 0.120 17 80117047 stop gained C/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 3 2007 2014
dbSNP: rs376229714
rs376229714 		1.000 0.120 17 80105775 stop gained C/A;T snv 4.0E-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 3 2002 2015
dbSNP: rs786204614
rs786204614 		1.000 0.120 17 80104929 stop gained C/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 3 1993 2007
dbSNP: rs786204727
rs786204727 		1.000 0.120 17 80112648 stop gained -/A delins 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 0.700 1.000 3 2003 2014
dbSNP: rs1344266804
rs1344266804 		1.000 0.120 17 80117675 stop gained 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 2 2012 2016
dbSNP: rs1555601828
rs1555601828 		1.000 0.120 17 80113365 stop gained 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 2 2003 2012
dbSNP: rs765718882
rs765718882 		0.925 0.120 17 80118668 stop gained G/T snv 2.0E-05 7.0E-06
CUI: C0342751
Disease: Generalized glycogen storage disease of infants
Generalized glycogen storage disease of infants 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.020 1.000 2 2006 2019
dbSNP: rs766680292
rs766680292 		1.000 0.120 17 80110785 stop gained 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 2 2000 2015
dbSNP: rs1057516277
rs1057516277 		1.000 0.120 17 80117005 stop gained C/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 1 2008 2008