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: rs869312344
rs869312344
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101400700 missense variant C/G;T snv 5.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 1.000 10 1997 2017