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: rs398123201
rs398123201
GLA ; HNRNPH2 ; RPL36A-HNRNPH2
1.000 0.160 X 101407779 missense variant A/G snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.800 1.000 5 1989 2017