rs137852912, PCSK9

N. diseases: 10
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, AUTOSOMAL DOMINANT, 3
CUI: C1863551
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3
13 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.800 1.000 3 2003 2014
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.740 1.000 4 2005 2018
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.740 1.000 4 2009 2018
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.100 1.000 11 2004 2020
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.030 1.000 3 2010 2018
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.030 1.000 3 2010 2018
Dyslipidemias
CUI: C0242339
Disease: Dyslipidemias
184 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.020 1.000 2 2006 2018
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.010 1.000 1 2007 2007
Familial hypercholesterolemia - heterozygous
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
34 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.010 1.000 1 2005 2005
Hypocholesterolemia
CUI: C0151718
Disease: Hypocholesterolemia
22 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.010 1.000 1 2007 2007