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: rs797044613
rs797044613
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1.000 0.160 X 101407780 missense variant T/C;G snv 9.4E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.810 1.000 10 2002 2017