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: rs1555985200
rs1555985200
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398947 splice acceptor variant C/- del
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 1.000 2 1999 2002