rs6511720
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| (G;T) | 2 | Slightly lower odds of developing CHD. |
| (T;T) | 2 | Slightly lower odds of developing CHD. |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 11091630 |
| Gene | LDLR |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6511720 |
| dbSNP (classic) | rs6511720 |
| ClinGen | rs6511720 |
| ebi | rs6511720 |
| HLI | rs6511720 |
| Exac | rs6511720 |
| Gnomad | rs6511720 |
| Varsome | rs6511720 |
| LitVar | rs6511720 |
| Map | rs6511720 |
| PheGenI | rs6511720 |
| Biobank | rs6511720 |
| 1000 genomes | rs6511720 |
| hgdp | rs6511720 |
| ensembl | rs6511720 |
| geneview | rs6511720 |
| scholar | rs6511720 |
| rs6511720 | |
| pharmgkb | rs6511720 |
| gwascentral | rs6511720 |
| openSNP | rs6511720 |
| 23andMe | rs6511720 |
| SNPshot | rs6511720 |
| SNPdbe | rs6511720 |
| MSV3d | rs6511720 |
| GWAS Ctlg | rs6511720 |
| GMAF | 0.08173 |
| Max Magnitude | 2 |
| ? | (G;G) (G;T) (T;T) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 19060906 ]
|
| Trait | LDL cholesterol |
| Title | Common variants at 30 loci contribute to polygenic dyslipidemia |
| Risk Allele | T |
| P-val | 2E-26 |
| Odds Ratio | 0.26 [0.18-0.34] SD increase |
| GWAS snp | |
|---|---|
| PMID | [PMID 18193044]
|
| Trait | LDL cholesterol |
| Title | Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans |
| Risk Allele | T |
| P-val | 2E-51 |
| Odds Ratio | 0.26 [0.22-0.30] % SD lower |
| GWAS snp | |
|---|---|
| PMID | [PMID 18193043]
|
| Trait | LDL cholesterol |
| Title | Newly identified loci that influence lipid concentrations and risk of coronary artery disease |
| Risk Allele | G |
| P-val | 4.0000000000000002E-26 |
| Odds Ratio | 9.17 [NR] mg/dl higher |
[PMID 20308432] Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry
[PMID 21977987] Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses
| GWAS snp | |
|---|---|
| PMID | [PMID 22003152]
|
| Trait | |
| Title | Eight genetic loci associated with variation in lipoprotein-associated phospholipase A2 mass and activity and coronary heart disease: meta-analysis of genome-wide association studies from five community-based studies. |
| Risk Allele | T |
| P-val | 3E-11 |
| Odds Ratio | 0.0450 None |
| GWAS snp | |
|---|---|
| PMID | [PMID 21943158]
|
| Trait | |
| Title | Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits. |
| Risk Allele | T |
| P-val | 5E-11 |
| Odds Ratio | 0.1480 [0.10-0.19] mmol/l decrease |
| GWAS snp | |
|---|---|
| PMID | [PMID 21909108]
|
| Trait | |
| Title | Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque. |
| Risk Allele | T |
| P-val | 1E-7 |
| Odds Ratio | 0.1778 [0.11-0.25] unit decrease |
| GWAS snp | |
|---|---|
| PMID | [PMID 20686565]
|
| Trait | |
| Title | Biological, clinical and population relevance of 95 loci for blood lipids. |
| Risk Allele | T |
| P-val | 0 |
| Odds Ratio | 6.9900 None |
[PMID 22530058] Evidence of Differential Allelic Effects between Adolescents and Adults for Plasma High-Density Lipoprotein
[PMID 18196181] Correction of population stratification in large multi-ethnic association studies.
[PMID 18714375] Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.
[PMID 18852197] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.
[PMID 19060910] Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
[PMID 19060911] Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
[PMID 19087220] Low density lipoprotein receptor polymorphisms and the risk of coronary heart disease: the Atherosclerosis Risk in Communities Study.
[PMID 19148283] Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.
[PMID 19185284] Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.
[PMID 19336475] Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
[PMID 19408013] Strategies and issues in the detection of pathway enrichment in genome-wide association studies.
[PMID 19435741] Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.
[PMID 19656773] A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.
[PMID 19750184] Genome-wide association studies for atherosclerotic vascular disease and its risk factors.
[PMID 19888660] Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.
[PMID 19951432] Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
[PMID 20031563] Genetic variants associated with myocardial infarction risk factors in over 8000 individuals from five ethnic groups: The INTERHEART Genetics Study.
[PMID 21347282] Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
[PMID 23098650] Impact of variants within seven candidate genes on statin treatment efficacy
| GWAS snp | |
|---|---|
| PMID | [PMID 22916037]
|
| Trait | Metabolite levels |
| Title | Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis. |
| Risk Allele | |
| P-val | 4E-9 |
| Odds Ratio | NR NR |
[PMID 23092954] SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.
[PMID 23404648] An association study between genetic polymorphisms related to lipoprotein-associated phospholipase A(2) and coronary heart disease.
| GWAS snp | |
|---|---|
| PMID | [PMID 24097068]
|
| Trait | Cholesterol, total |
| Title | Discovery and refinement of loci associated with lipid levels. |
| Risk Allele | T |
| P-val | 5E-202 |
| Odds Ratio | .19 [NR] unit decrease |
| GWAS snp | |
|---|---|
| PMID | [PMID 24046328] |
| Trait | Abdominal aortic aneurysm |
| Title | A variant in LDLR is associated with abdominal aortic aneurysm. |
| Risk Allele | |
| P-val | 2E-10 |
| Odds Ratio | 1.32 [1.20-1.43] |
| GWAS snp | |
|---|---|
| PMID | [PMID 19936222]
|
| Trait | Lipid metabolism phenotypes |
| Title | Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. |
| Risk Allele | |
| P-val | 5E-25 |
| Odds Ratio | 4.52 [NR] unit decrease |
| ClinVar | |
|---|---|
| Risk | Rs6511720(T;T) |
| Alt | Rs6511720(T;T) |
| Reference | Rs6511720(G;G) |
| Significance | Non-pathogenic |
| Disease | Familial hypercholesterolemia |
| Variation | info |
| Gene | LDLR |
| CLNDBN | Familial hypercholesterolemia |
| Reversed | 0 |
| HGVS | NC_000019.9:g.11202306G>T |
| CLNSRC | LDLR @ LOVD |
| CLNACC | RCV000238585.1, |
