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: rs148158093
rs148158093
0.925 0.200 X 101403828 missense variant G/A snv 2.2E-04 4.0E-04
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs28935197
rs28935197
0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2018 2018