rs752596535, 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.
Hypercholesterolemia, Familial
CUI: C0020445
Disease: Hypercholesterolemia, Familial
1423 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.700 1.000 13 1995 2016
Familial hypercholesterolemia - homozygous
CUI: C0342881
Disease: Familial hypercholesterolemia - homozygous
72 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.700 1.000 7 1995 2016
Hypercholesterolemia result
CUI: C1522133
Disease: Hypercholesterolemia result
415 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.700 0
Hyperlipoproteinemia Type IIa
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
661 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.700 0
Low density lipoprotein increased
CUI: C0549399
Disease: Low density lipoprotein increased
318 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.700 0
Myocardial Infarction
CUI: C0027051
Disease: Myocardial Infarction
680 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.020 1.000 2 2003 2004
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
711 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2006 2006
Cerebrovascular Disorders
CUI: C0007820
Disease: Cerebrovascular Disorders
56 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2006 2006
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
440 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2003 2003
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
1577 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2003 2003
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
1178 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2003 2003
Essential Hypertension
CUI: C0085580
Disease: Essential Hypertension
293 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2008 2008
Ischemic stroke
CUI: C0948008
Disease: Ischemic stroke
704 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2006 2006
Myocardial Ischemia
CUI: C0151744
Disease: Myocardial Ischemia
103 0.752 0.200 19 11105407 stop gained C/A;G;T snv 1.6E-05 0.010 1.000 1 2003 2003