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: rs104894851
rs104894851
GLA ; RPL36A-HNRNPH2
0.925 0.200 X 101398920 stop gained G/T snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.710 1.000 0 2003 2003