Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894852
rs104894852
GLA ; RPL36A-HNRNPH2
0.925 0.200 X 101397871 missense variant T/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.810 1.000 30 1989 2017