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: rs104894847
rs104894847
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.925 0.160 X 101407846 missense variant C/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 1.000 20 1989 2016
dbSNP: rs104894847
rs104894847
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
0.925 0.160 X 101407846 missense variant C/G snv
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant 		0.700 0