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.
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.790 0.120 19 11113680 missense variant G/T snv 0.100 1.000 10 2004 2020
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.790 0.120 19 11113680 missense variant G/T snv 0.020 1.000 2 2010 2013
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.790 0.120 19 11113680 missense variant G/T snv 0.020 1.000 2 2010 2013
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.790 0.120 19 11113680 missense variant G/T snv 0.020 1.000 2 2005 2009
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.790 0.120 19 11113680 missense variant G/T snv 0.020 1.000 2 2009 2013
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.790 0.120 19 11113680 missense variant G/T snv 0.010 1.000 1 2007 2007
Familial hypercholesterolemia - heterozygous
34 0.790 0.120 19 11113680 missense variant G/T snv 0.010 1.000 1 2005 2005
Hypocholesterolemia
CUI: C0151718
Disease: Hypocholesterolemia
22 0.790 0.120 19 11113680 missense variant G/T snv 0.010 1.000 1 2007 2007