Source: ALL

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: rs104894833
rs104894833
GLA ; RPL36A-HNRNPH2
0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 0.976 42 1989 2018