{{Rsnum
|rsid=2228671
|Gene=LDLR
|Chromosome=19
|position=11100236
|Orientation=plus
|ReferenceAllele=C
|GMAF=0.05739
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=LDLR
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;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 | 97.3 | 2.1 | 0.7
| ASW | 91.2 | 8.8 | 0.0
| CHB | 100.0 | 0.0 | 0.0
| CHD | 98.2 | 1.8 | 0.0
| GIH | 82.0 | 17.0 | 1.0
| LWK | 95.4 | 4.6 | 0.0
| MEX | 79.3 | 20.7 | 0.0
| MKK | 96.2 | 3.8 | 0.0
| TSI | 84.3 | 15.7 | 0.0
| HapMapRevision=28
}}

{{PMID|18714375|OA=1
}} 15,000 individuals. Each copy of the minor T allele of SNP rs2228671 was related to a decrease of LDL-C levels by 0.19 mmol/L (95% confidence interval (CI) [0.13-0.24] mmol/L, p = 1.5x10(-10)) and a significantly lower risk of [[coronary artery disease]] (OR per copy of the T allele: 0.82, 95% CI [0.76-0.89], p = 2.1x10(-7))

{{PMID Auto GWAS
|PMID=19060911
|Trait=Cholesterol, total
|Title=Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
|RiskAllele=G
|Pval=9E-24
|OR=0.16
|ORtxt=[NR] SD increase
|OA=1
}}

{{PharmGKB
|RSID=rs2228671
|Name_s=
|Gene_s=LDLR
|Feature=
|Evidence=PubMed ID:19060911; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 17,797 individuals; Replication Sample Size: NR); (Region: 19p13.2; Reported Gene(s): LDLR; Risk Allele: rs2228671-G); (p-value= 0.00000000000004).This variant is associated with LDL cholesterol.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740217
}}

{{omim
|desc=LOW DENSITY LIPOPROTEIN RECEPTOR; LDLR
|id=606945
|rsnum=2228671
}}

{{PharmGKB
|RSID=rs2228671
|Name_s=
|Gene_s=LDLR
|Feature=
|Evidence=PubMed ID:19060911; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts. (Initial Sample Size: 22,562 individuals; Replication Sample Size: NR); (Region: 19p13.2; Reported Gene(s): LDLR; Risk Allele: rs2228671-G); (p-value= 9E-24).This variant is associated with Cholesterol, total.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164740189
}}

{{PMID Auto
|PMID=20810930
|Title=Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile
}}

{{PMID Auto
|PMID=18262040
|Title=LDL-cholesterol concentrations: a genome-wide association study.
|OA=1
}}

{{PMID Auto
|PMID=19041386
|Title=Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
|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=19802338
|Title=Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication.
|OA=1
}}

{{PMID Auto
|PMID=19913121
|Title=Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
|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=20502693
|Title=Genetics and beyond--the transcriptome of human monocytes and disease susceptibility.
|OA=1
}}

{{PMID Auto
|PMID=20616999
|Title=Usefulness of Mendelian randomization in observational epidemiology.
|OA=1
}}

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2228671
|overall_frequency_n=967
|overall_frequency_d=10758
|overall_frequency=0.0898866
|n_genomes=8
|n_genomes_annotated=0
|n_haplomes=8
|n_articles=2
|n_articles_annotated=2
|in_pharmgkb=Y
|autoscore=1
|webscore=N
|summary_short=rs2228671 is a C/T variation in the LDLR gene on human chromosome 19 associated with total cholesterol.
}}

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