{{Rsnum
|rsid=6511720
|Gene=LDLR
|Chromosome=19
|position=11091630
|Orientation=plus
|GMAF=0.08173
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene_s=LDLR
}}{{ population diversity
| geno1=(G;G)
| geno2=(G;T)
| geno3=(T;T)
| CEU | 81.4 | 15.9 | 2.7
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 73.1 | 24.1 | 2.8
| ASW | 77.2 | 19.3 | 3.5
| CHB | 100.0 | 0.0 | 0.0
| CHD | 98.1 | 1.9 | 0.0
| GIH | 82.8 | 17.2 | 0.0
| LWK | 70.6 | 27.5 | 1.8
| MEX | 84.5 | 13.8 | 1.7
| MKK | 60.9 | 32.7 | 6.4
| TSI | 78.4 | 19.6 | 2.0
| HapMapRevision=28
}}
{{PMID Auto GWAS
|PMID=19060906
|Trait=LDL cholesterol
|Title=Common variants at 30 loci contribute to polygenic dyslipidemia
|RiskAllele=T
|Pval=2E-26
|OR=0.26
|ORtxt=[0.18-0.34] SD increase
|OA=1
}}
{{PMID Auto GWAS
|PMID=18193044
|Trait=LDL cholesterol
|Title=Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
|RiskAllele=T
|Pval=2E-51
|OR=0.26
|ORtxt=[0.22-0.30] % SD lower
|OA=1
}}
{{PMID Auto GWAS
|PMID=18193043
|Trait=LDL cholesterol
|Title=Newly identified loci that influence lipid concentrations and risk of coronary artery disease
|RiskAllele=G
|Pval=4.0000000000000002E-26
|OR=9.17
|ORtxt=[NR] mg/dl higher
}}

{{PharmGKB
|RSID=rs6511720
|Name_s=
|Gene_s=LDLR
|Feature=Intron
|Evidence=PubMed ID:19802338
|Annotation=Phenotype: In a GWAS, this SNP was significantly associated with plasma concentrations of LDL-C and apolipoprotein B. Study size: 6382. Study population/ethnicity: Caucasian women. Significance metric(s): LDL-C: p = 5.2 x 10 (-15);ApoB: p = 7.0 x 10(-18). Type of association: CO; GN
|Drugs=
|Drug Classes=
|Diseases=Cardiovascular Diseases
|Curation Level=Curated
|PharmGKB Accession ID=PA165148951
}}

{{PMID Auto
|PMID=20308432
|Title=Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry
|OA=1
}}

{{PharmGKB
|RSID=rs6511720
|Name_s=
|Gene_s=LDLR
|Feature=Intron
|Evidence=PubMed ID:19060906; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Common variants at 30 loci contribute to polygenic dyslipidemia. (Initial Sample Size: 19,840 individuals; Replication Sample Size: Up to 20,623 individuals); (Region: 19p13.2; Reported Gene(s): LDLR; Risk Allele: rs6511720-T); (p-value= 2E-26).This variant is associated with LDL cholesterol.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740252
}}

{{omim
|id=606945
|rsnum=6511720
}}

{{PMID Auto
|PMID=21977987
|Title=Replication of LDL GWAs hits in PROSPER/PHASE as validation for future (pharmaco)genetic analyses
|OA=1
}}

{{PMID Auto GWAS
|PMID=22003152
|Trait=None
|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.
|RiskAllele=T
|Pval=3E-11
|OR=0.0450
|ORtxt=None
|OA=1
}}

{{PMID Auto GWAS
|PMID=21943158
|Trait=None
|Title=Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.
|RiskAllele=T
|Pval=5E-11
|OR=0.1480
|ORtxt=[0.10-0.19] mmol/l decrease
|OA=1
}}

{{PMID Auto GWAS
|PMID=21909108
|Trait=None
|Title=Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
|RiskAllele=T
|Pval=1E-7
|OR=0.1778
|ORtxt=[0.11-0.25] unit decrease
|OA=1
}}

{{PMID Auto GWAS
|PMID=20686565
|Trait=None
|Title=Biological, clinical and population relevance of 95 loci for blood lipids.
|RiskAllele=T
|Pval=0
|OR=6.9900
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=22530058
|Title=Evidence of Differential Allelic Effects between Adolescents and Adults for Plasma High-Density Lipoprotein
|OA=1
}}

{{PMID Auto
|PMID=18196181
|Title=Correction of population stratification in large multi-ethnic association studies.
|OA=1
}}

{{PMID Auto
|PMID=18714375
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=18852197
|Title=Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.
|OA=1
}}

{{PMID Auto
|PMID=19060910
|Title=Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
|OA=1
}}

{{PMID Auto
|PMID=19060911
|Title=Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.
|OA=1
}}

{{PMID Auto
|PMID=19087220
|Title=Low density lipoprotein receptor polymorphisms and the risk of coronary heart disease: the Atherosclerosis Risk in Communities Study.
|OA=1
}}

{{PMID Auto
|PMID=19148283
|Title=Genetic differences between the determinants of lipid profile phenotypes in African and European Americans: the Jackson Heart Study.
|OA=1
}}

{{PMID Auto
|PMID=19185284
|Title=Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=19336475
|Title=Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.
|OA=1
}}

{{PMID Auto
|PMID=19408013
|Title=Strategies and issues in the detection of pathway enrichment in genome-wide association studies.
|OA=1
}}

{{PMID Auto
|PMID=19435741
|Title=Common lipid-altering gene variants are associated with therapeutic intervention thresholds of lipid levels in older people.
|OA=1
}}

{{PMID Auto
|PMID=19656773
|Title=A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.
|OA=1
}}

{{PMID Auto
|PMID=19750184
|Title=Genome-wide association studies for atherosclerotic vascular disease and its risk factors.
|OA=1
}}

{{PMID Auto
|PMID=19888660
|Title=Genetic determinants of serum lipid levels in Chinese subjects: a population-based study in Shanghai, China.
|OA=1
}}

{{PMID Auto
|PMID=19951432
|Title=Analysis of recently identified dyslipidemia alleles reveals two loci that contribute to risk for carotid artery disease.
|OA=1
}}

{{PMID Auto
|PMID=20031563
|Title=Genetic variants associated with myocardial infarction risk factors in over 8000 individuals from five ethnic groups: The INTERHEART Genetics Study.
}}

{{PMID Auto
|PMID=21347282
|Title=Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs6511720
|overall_frequency_n=15
|overall_frequency_d=128
|overall_frequency=0.117188
|n_genomes=10
|n_genomes_annotated=0
|n_haplomes=10
|n_articles=1
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23098650
|Title=Impact of variants within seven candidate genes on statin treatment efficacy
}}

{{PMID Auto GWAS
  |PMID=22916037
  |Trait=Metabolite levels
  |Title=Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
  |RiskAllele=
  |Pval=4E-9
  |OR=NR
  |ORtxt=NR
  |OA=1
}}

{{PMID Auto
|PMID=23092954
|Title=SHAVE: shrinkage estimator measured for multiple visits increases power in GWAS of quantitative traits.
|OA=1
}}

{{PMID Auto
|PMID=23404648
|Title=An association study between genetic polymorphisms related to lipoprotein-associated phospholipase A(2) and coronary heart disease.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}