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: rs782449839
rs782449839
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101397903 missense variant C/G snv 8.2E-05 1.9E-05
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 1.000 20 1989 2016