GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Glycogen Storage Disease ×
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: 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: 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: rs747610090
rs747610090 		1.000 0.120 17 80108818 missense variant T/A snv 2.8E-05
CUI: C0017919
Disease: Glycogen Storage Disease
Glycogen Storage Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 10 2006 2017