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 0.882 0.160 X 101398403 missense variant G/C;T snv 0.710 1.000 1 2017 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.882 0.160 X 101398403 missense variant G/C;T snv 0.010 1.000 1 2017 2017
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.882 0.160 X 101398403 missense variant G/C;T snv 0.010 1.000 1 2017 2017