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.
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.882 0.160 19 11111519 missense variant G/A;C;T snv 1.2E-05 0.800 1.000 11 2004 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.882 0.160 19 11111519 missense variant G/A;C;T snv 1.2E-05 0.700 1.000 5 1997 2010
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.882 0.160 19 11111519 missense variant G/A;C;T snv 1.2E-05 0.700 0
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.882 0.160 19 11111519 missense variant G/A;C;T snv 1.2E-05 0.700 0