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: rs28935485
rs28935485
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101398534 missense variant G/C snv
CUI: C0002986
Disease: Fabry Disease
Fabry Disease 		0.710 1.000 20 1989 2016
dbSNP: rs28935485
rs28935485
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101398534 missense variant G/C snv
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
Fabry Disease, Cardiac Variant 		0.700 0
dbSNP: rs28935485
rs28935485
GLA ; RPL36A-HNRNPH2
0.925 0.160 X 101398534 missense variant G/C snv
CUI: C0085078
Disease: Lysosomal Storage Diseases
Lysosomal Storage Diseases 		0.010 1.000 1 2012 2012