Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Fabry Disease
CUI: C0002986
Disease: Fabry Disease
206 0.925 0.160 X 101398534 missense variant G/C snv 0.710 1.000 20 1989 2016
Fabry Disease, Cardiac Variant
CUI: C1970820
Disease: Fabry Disease, Cardiac Variant
5 0.925 0.160 X 101398534 missense variant G/C snv 0.700 0
Lysosomal Storage Diseases
CUI: C0085078
Disease: Lysosomal Storage Diseases
8 0.925 0.160 X 101398534 missense variant G/C snv 0.010 1.000 1 2012 2012