GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
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: rs138886989
rs138886989
0.925 0.160 X 101401763 missense variant T/C snv 1.9E-04 2.8E-05
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease
Respiratory Tract Diseases 0.010 1.000 1 2010 2010