Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 12 2008 2019
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 5 2012 2019
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		0.760 0.857 7 2008 2019
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		0.750 1.000 6 2007 2018
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.730 1.000 6 2010 2019
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 4 2008 2012
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C3549252
Disease: response to statin
response to statin 		0.700 1.000 1 2012 2012
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		0.700 1.000 1 2019 2019
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0020445
Disease: Hypercholesterolemia, Familial
Hypercholesterolemia, Familial 		0.040 1.000 4 2007 2014
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa 		0.030 1.000 3 2009 2014
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 1.000 2 2010 2016
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.020 1.000 2 2010 2013
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		0.020 0.500 2 2015 2018
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.020 1.000 2 2009 2019
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		0.020 1.000 2 2009 2019
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0042373
Disease: Vascular Diseases
Vascular Diseases 		0.020 0.500 2 2008 2019
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.010 1.000 1 2018 2018
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		0.010 1.000 1 2010 2010
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		0.010 1.000 1 2017 2017
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.010 1.000 1 2017 2017
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0302314
Disease: Xanthoma
Xanthoma 		0.010 1.000 1 2014 2014
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0003507
Disease: Aortic Valve Stenosis
Aortic Valve Stenosis 		0.010 1.000 1 2016 2016
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.010 1.000 1 2018 2018
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		0.010 1.000 1 2019 2019
dbSNP: rs11591147
rs11591147
PCSK9
0.677 0.360 1 55039974 missense variant G/A;T snv 1.2E-02
CUI: C0043325
Disease: Xanthomatosis
Xanthomatosis 		0.010 1.000 1 2014 2014