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 0.851 0.160 11 533883 missense variant G/A snv 0.810 1.000 15 2005 2016
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.851 0.160 11 533883 missense variant G/A snv 0.010 1.000 1 2016 2016
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.851 0.160 11 533883 missense variant G/A snv 0.010 1.000 1 2016 2016
Macrocephaly
CUI: C0221355
Disease: Macrocephaly
10 0.851 0.160 11 533883 missense variant G/A snv 0.010 1.000 1 2012 2012