GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Dysmorphic features ×
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: rs764622267
rs764622267 		0.925 0.120 17 80107718 missense variant C/G;T snv 5.1E-06; 5.1E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 18 1988 2015