rs11591147, PCSK9

N. diseases: 28
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.
Xanthoma
CUI: C0302314
Disease: Xanthoma
4 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2014 2014
response to statin
CUI: C3549252
Disease: response to statin
8 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.700 1.000 1 2012 2012
Xanthomatosis
CUI: C0043325
Disease: Xanthomatosis
10 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2014 2014
Aortic Valve Stenosis
CUI: C0003507
Disease: Aortic Valve Stenosis
19 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2016 2016
Hypocholesterolemia
CUI: C0151718
Disease: Hypocholesterolemia
22 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2007 2007
Fatty Liver
CUI: C0015695
Disease: Fatty Liver
35 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2017 2017
Vascular Diseases
CUI: C0042373
Disease: Vascular Diseases
40 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 0.500 2 2008 2019
Erectile dysfunction
CUI: C0242350
Disease: Erectile dysfunction
44 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2019 2019
Spina Bifida
CUI: C0080178
Disease: Spina Bifida
61 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2018 2018
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
75 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2017 2017
Myocardial Ischemia
CUI: C0151744
Disease: Myocardial Ischemia
103 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2010 2010
Neural Tube Defects
CUI: C0027794
Disease: Neural Tube Defects
122 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2018 2018
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 0.500 2 2015 2018
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
267 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 1.000 2 2009 2019
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
281 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 1.000 2 2009 2019
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
440 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 1.000 2 2010 2013
Alcohol consumption
CUI: C0001948
Disease: Alcohol consumption
535 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.700 1.000 1 2019 2019
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
555 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.700 1.000 4 2008 2012
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.030 1.000 3 2009 2014
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
680 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.020 1.000 2 2010 2016
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.010 1.000 1 2018 2018
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.760 0.857 7 2008 2019
Low density lipoprotein cholesterol measurement
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
1142 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.800 1.000 12 2008 2019
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.750 1.000 6 2007 2018
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
1243 0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02 0.800 1.000 5 2012 2019