Source: CLINVAR

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: rs727503950
rs727503950
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101400712 missense variant A/G snv 1.1E-05 1.9E-05
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 1.000 1 2016 2016