GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Cornea verticillata ×
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: rs28935197
rs28935197 		0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06
CUI: C1706559
Disease: Cornea verticillata
Cornea verticillata 		0.010 1.000 1 2015 2015