{{Rsnum
|rsid=688
|Gene=LDLR
|Chromosome=19
|position=11116926
|Orientation=plus
|ReferenceAllele=C
|GMAF=0.2796
|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 | 35.4 | 44.2 | 20.4
| HCB | 75.2 | 20.4 | 4.4
| JPT | 70.8 | 26.5 | 2.7
| YRI | 95.2 | 4.8 | 0.0
| ASW | 68.4 | 31.6 | 0.0
| CHB | 75.2 | 20.4 | 4.4
| CHD | 66.1 | 30.3 | 3.7
| GIH | 38.6 | 45.5 | 15.8
| LWK | 92.7 | 7.3 | 0.0
| MEX | 27.6 | 58.6 | 13.8
| MKK | 80.1 | 19.2 | 0.6
| TSI | 32.4 | 55.9 | 11.8
| HapMapRevision=28
}}
RNA made containing the [[rs688]](T) SNP, a variant near exon 12 of the low-density lipoprotein receptor ([[LDLR]]) that is a receptor for [[ApoE]] proteins, is spliced at lower efficiency in males. Presumably due to this, the [[rs688(T;T)]] genotype was associated with increased risk for [[Alzheimer's disease]] odds in males (odds ratio 1.49, CI: 1.13-1.97, uncorrected p=0.005), but not in females.{{PMID|18065781|OA=1
}}

The presence of the [[rs688]](T) allele associates with increased total and LDL-cholesterol in female members of the Framingham Offspring Study; [[rs688]] was not associated with significant differences in HDL-cholesterol. The largest rs688-associated cholesterol differences were observed in pre-menopausal women. Taken together, [[rs688]], a SNP present in approximately 60% of Caucasians, is associated with significant 10% increases in total and LDL-cholesterol in pre-menopausal women.{{PMID|17517690|OA=1
}}

{{ neighbor
| rsid = 28942082
| distance = 725
}}

{{PharmGKB
|RSID=rs688
|Name_s=LDLR: 16730C>T,
|Gene_s=LDLR
|Feature=
|Evidence=PubMed ID:15453913
|Annotation=The C-allele of LDLR: 16730C>T was predictive of change in systolic blood pressure in response to atenolol.
|Drugs=atenolol; irbesartan
|Drug Classes=
|Diseases=Hypertension
|Curation Level=Curated
|PharmGKB Accession ID=PA162361481
}}

{{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|12434007|OA=1
}} SNP genotyping on a genome-wide amplified DOP-PCR template.

{{PMID|18159244|OA=1
}} Genome wide association (GWA) study for early onset extreme obesity supports the role of fat mass and obesity associated gene (FTO) variants.

{{PMID|18179892|OA=1
}} Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

{{PMID|18714375|OA=1
}} 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|19041386|OA=1
}} Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.

{{PMID|19379518|OA=1
}} Development of a fingerprinting panel using medically relevant polymorphisms.

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

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

{{PMID|20005478|OA=1
}} The role of HMGCR alternative splicing in statin efficacy.

{{PMID|20158892|OA=1
}} Genomic features defining exonic variants that modulate splicing.

{{PMID|20232416|OA=1
}} Role of SFRS13A in low-density lipoprotein receptor splicing.

{{PMID|20565774|OA=1
}} Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.

{{PMID|20807319|OA=1
}} Expression and regulation of a low-density lipoprotein receptor exon 12 splice variant.

{{PMID|20832063}} Exploring genetic determinants of plasma total cholesterol levels and their predictive value in a longitudinal study.

{{PMID|20972250}} Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.

{{GET Evidence
|impact=pharmacogenetic
|qualified_impact=Insufficiently evaluated pharmacogenetic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs688
|overall_frequency_n=3611
|overall_frequency_d=10758
|overall_frequency=0.335657
|n_genomes=20
|n_genomes_annotated=0
|n_haplomes=24
|n_articles=1
|n_articles_annotated=0
|in_pharmgkb=Y
|autoscore=1
|webscore=N
}}

{{PMID Auto
|PMID=23588940
|Title=Association of Polymorphisms Modulating Low-density Lipoprotein Cholesterol with Susceptibility, Severity, and Progression of Rheumatoid Arthritis
}}

{{PMID Auto
|PMID=24295502
|Title=Genetic Polymorphism of LDLR (rs688) Is Associated with Primary Intracerebral Hemorrhage
}}

{{PMID Auto
|PMID=22621231
|Title=Polymorphisms at the LDLR locus may be associated with ischemic cerebrovascular disease independent of lipid profile.
}}

{{PMID Auto
|PMID=23297366
|Title=A common polymorphism in the LDL receptor gene has multiple effects on LDL receptor function.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}