rs116843064, ANGPTL4

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PLASMA TRIGLYCERIDE LEVEL QUANTITATIVE TRAIT LOCUS
0.700 GeneticVariation CLINVAR
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT A large electronic-health-record-based genome-wide study of serum lipids. 29507422 2018
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.030 GeneticVariation BEFREE An E40K loss-of-function variant in the ANGPTL4 gene is associated with substantially reduced plasma triglyceride levels in white persons, but its association with cardiovascular disease occurrence has not been reported. 18940399 2008
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.710 GeneticVariation GWASCAT Association analyses based on false discovery rate implicate new loci for coronary artery disease. 28714975 2017
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. 24507774 2014
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. 24507774 2014
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.710 GeneticVariation BEFREE Carriers of E40K and other inactivating mutations in ANGPTL4 had lower levels of triglycerides and a lower risk of coronary artery disease than did noncarriers. 26933753 2016
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.030 GeneticVariation BEFREE Carriers of E40K and other inactivating mutations in ANGPTL4 had lower levels of triglycerides and a lower risk of coronary artery disease than did noncarriers. 26933753 2016
Coronary Arteriosclerosis
CUI: C0010054
Disease: Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Carriers of E40K and other inactivating mutations in ANGPTL4 had lower levels of triglycerides and a lower risk of coronary artery disease than did noncarriers. 26933753 2016
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE Carriers of p.E40K, a variant that abolishes ANGPTL4 ability to inhibit lipoprotein lipase, have lower odds of T2D (odds ratio 0.89, 95% confidence interval 0.85-0.92, p = 6.3 × 10<sup>-10</sup>), lower fasting glucose, and greater insulin sensitivity. 29899519 2018
Coronary heart disease
CUI: C0010068
Disease: Coronary heart disease
0.030 GeneticVariation BEFREE Circulating Angptl4 levels may not influence TG levels or CHD risk for the following reasons: (1) Angptl4 levels were not correlated with TGs; (2) T266M, although associated with Angptl4 levels, showed no association with plasma TGs; and (3) TG-lowering E40K did not influence Angptl4 levels. 20829508 2010
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study. 29084231 2017
Phospholipid measurement
CUI: C0202177
Disease: Phospholipid measurement
0.700 GeneticVariation GWASCAT Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study. 29084231 2017
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study. 29084231 2017
Cardiovascular Diseases
CUI: C0007222
Disease: Cardiovascular Diseases
0.030 GeneticVariation BEFREE Conflicting results have been obtained regarding whether the E40K variant (a loss-of-function mutation of Angptl4) is associated with an increased risk for cardiovascular disease, which may occur due to the lipid-independent actions of Angptl4. 19851103 2010
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
High density lipoprotein measurement
0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
Coronary Artery Disease
CUI: C1956346
Disease: Coronary Artery Disease
0.710 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
RDW - Red blood cell distribution width result
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Red cell distribution width determination
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Arteriosclerosis
CUI: C0003850
Disease: Arteriosclerosis
0.030 GeneticVariation BEFREE Longitudinal changes in triglycerides according to ANGPTL4[E40K] genotype and longitudinal body weight change in the atherosclerosis risk in communities study. 18809343 2008
Atherosclerosis
CUI: C0004153
Disease: Atherosclerosis
0.030 GeneticVariation BEFREE Longitudinal changes in triglycerides according to ANGPTL4[E40K] genotype and longitudinal body weight change in the atherosclerosis risk in communities study. 18809343 2008
Triglycerides measurement
CUI: C0202236
Disease: Triglycerides measurement
0.700 GeneticVariation GWASCAT Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels. 27036123 2016