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: rs869312265
rs869312265
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1.000 0.160 X 101407903 start lost T/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.010 1.000 1 2019 2019