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: rs869312139
rs869312139
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1.000 0.160 X 101407714 missense variant T/A snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 1.000 11 2002 2017