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: rs1555599667
rs1555599667 		1.000 0.120 17 80107660 missense variant 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 0.800 1.000 26 1991 2015
dbSNP: rs786204645
rs786204645 		1.000 0.120 17 80113281 missense variant C/T snv 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 24 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: 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: 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: 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: 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: rs386834235
rs386834235 		1.000 0.120 17 80105111 frameshift variant T/- del 1.8E-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 15 1994 2017
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: rs1555600061
rs1555600061 		1.000 0.120 17 80108512 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 8 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: rs770276275
rs770276275 		1.000 0.120 17 80110029 frameshift variant GAGA/- del 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 6 1988 2009
dbSNP: rs786204621
rs786204621 		1.000 0.120 17 80113008 inframe deletion ACA/- delins
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 1998 2014
dbSNP: rs786204507
rs786204507 		1.000 0.120 17 80108384 frameshift variant G/- delins
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 5 2006 2014
dbSNP: rs786204561
rs786204561 		1.000 0.120 17 80118359 splice donor variant T/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 0.700 1.000 5 1993 2011
dbSNP: rs1555600730
rs1555600730 		1.000 0.120 17 80110725 splice acceptor variant A/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 0.700 1.000 4 1990 2014
dbSNP: rs886043343
rs886043343 		1.000 0.120 17 80118210 frameshift variant CA/- delins
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 2008 2012
dbSNP: rs1057516520
rs1057516520 		1.000 0.120 17 80108528 missense variant A/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 2004 2010
dbSNP: rs1057517105
rs1057517105 		0.882 0.160 17 80112655 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 0.700 1.000 3 2012 2015
dbSNP: rs1555600575
rs1555600575 		1.000 0.120 17 80110056 splice donor 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 0.700 1.000 3 2012 2012
dbSNP: rs1555601773
rs1555601773 		1.000 0.120 17 80113309 missense variant CA/GG 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 3 2007 2017
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: rs761317813
rs761317813 		1.000 0.120 17 80104838 frameshift variant C/-;CC delins
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 1998 2011
dbSNP: rs786204532
rs786204532 		1.000 0.120 17 80107630 frameshift variant TATATCACAGGCCTCGCCGA/C delins
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 1998 2012
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