rs2228671, LDLR

N. diseases: 14
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.
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.800 1.000 31 1989 2017
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.700 1.000 9 1992 2014
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.040 1.000 4 2008 2020
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.730 1.000 4 2010 2020
Low density lipoprotein cholesterol measurement
1142 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.800 1.000 4 2008 2019
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
440 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.030 1.000 3 2010 2020
Serum LDL cholesterol measurement
CUI: C0428474
Disease: Serum LDL cholesterol measurement
555 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.700 1.000 3 2008 2012
Serum total cholesterol measurement
CUI: C1445957
Disease: Serum total cholesterol measurement
1243 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.800 1.000 3 2009 2019
Gestational Diabetes
CUI: C0085207
Disease: Gestational Diabetes
224 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.010 1.000 1 2017 2017
Hypercholesterolemia
CUI: C0020443
Disease: Hypercholesterolemia
123 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.010 1.000 1 2016 2016
Pyloric Stenosis, Hypertrophic
CUI: C0700639
Disease: Pyloric Stenosis, Hypertrophic
306 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.700 1.000 1 2012 2012
Serum albumin measurement
CUI: C0523465
Disease: Serum albumin measurement
3282 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.700 1.000 1 2012 2012
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.790 0.160 19 11100236 stop gained C/A;G;T snv 1.6E-05; 8.9E-02 0.700 0