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: rs104894833
rs104894833
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2015 2015