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: rs104894844
rs104894844
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101397907 stop gained C/A;T snv 5.5E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 1.000 3 1993 1996