Source: ALL

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: rs869312389
rs869312389
GLA ; RPL36A-HNRNPH2
1.000 0.160 X 101398867 frameshift variant TT/-;T delins 5.4E-06
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.700 1.000 10 1994 2016