GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Chronic kidney disease stage 5 ×
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: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs28935197
rs28935197 		0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018