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: rs104894843
rs104894843
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398075 stop gained G/A;C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 1.000 2 1993 2006