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: rs149391489
rs149391489
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101401803 missense variant T/C snv 3.3E-04 4.2E-04
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.010 1.000 1 2010 2010