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.
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.827 0.120 19 11113585 missense variant G/A snv 0.010 1 2015 2015
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.827 0.120 19 11113585 missense variant G/A snv 0.010 1 2015 2015
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.827 0.120 19 11113585 missense variant G/A snv 0.010 1 2015 2015
Familial hypercholesterolemia - heterozygous
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
34 0.827 0.120 19 11113585 missense variant G/A snv 0.010 1.000 1 2014 2014
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.827 0.120 19 11113585 missense variant G/A snv 0.010 1.000 1 2014 2014
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.827 0.120 19 11113585 missense variant G/A snv 0.010 1.000 1 2014 2014