rs2228671, LDLR

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.
Low density lipoprotein cholesterol measurement
676 0.801 0.143 19 11100236 stop gained C/A,G,T snp 1.6E-05; 8.9E-02 8.6E-02 0.800 3 2008 2012
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
814 0.801 0.143 19 11100236 stop gained C/A,G,T snp 1.6E-05; 8.9E-02 8.6E-02 0.800 2 2009 2012
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
760 0.801 0.143 19 11100236 stop gained C/A,G,T snp 1.6E-05; 8.9E-02 8.6E-02 0.710 1.000 2 2011 2011
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1189 0.801 0.143 19 11100236 stop gained C/A,G,T snp 1.6E-05; 8.9E-02 8.6E-02 0.700 3 2005 2015
Calcification of coronary artery
CUI: C1611184
Disease: Calcification of coronary artery
3393 0.801 0.143 19 11100236 stop gained C/A,G,T snp 1.6E-05; 8.9E-02 8.6E-02 0.700 1 2012 2012
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
182 0.801 0.143 19 11100236 stop gained C/A,G,T snp 1.6E-05; 8.9E-02 8.6E-02 0.700 1 1997 1997
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 2
130 0.801 0.143 19 11100236 stop gained C/A,G,T snp 1.6E-05; 8.9E-02 8.6E-02 0.700 1 1997 1997
Pyloric Stenosis, Hypertrophic
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
298 0.801 0.143 19 11100236 stop gained C/A,G,T snp 1.6E-05; 8.9E-02 8.6E-02 0.700 1 2012 2012
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
861 0.801 0.143 19 11100236 stop gained C/A,G,T snp 1.6E-05; 8.9E-02 8.6E-02 0.020 1.000 2 2008 2011
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
189 0.801 0.143 19 11100236 stop gained C/A,G,T snp 1.6E-05; 8.9E-02 8.6E-02 0.010 1.000 1 2011 2011