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.
Costello syndrome (disorder)
CUI: C0587248
Disease: Costello syndrome (disorder)
24 0.882 0.120 11 533877 missense variant C/A;T snv 0.020 1.000 2 2015 2017
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.882 0.120 11 533877 missense variant C/A;T snv 0.010 1.000 1 2017 2017
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.882 0.120 11 533877 missense variant C/A;T snv 0.010 1.000 1 2017 2017