rs72658867

This variant is located in the LDLR gene.

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GWAS Catalog Trait Associations (14)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

low density lipoprotein cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.36
p 7.0e-239
N 355,197
Major Consortium StudyLarge GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.25
p 2.0e-161
N 394,642
Large GWAS
European

apolipoprotein B measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.34
p 5.0e-216
N 354,097
Major Consortium StudyLarge GWAS
multi-ancestry

total cholesterol measurement

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele A
OR 0.32
p 9.0e-195
N 355,858
Major Consortium StudyLarge GWAS
multi-ancestry
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.23
p 5.0e-133
N 394,642
Large GWAS
European

Hypercholesterolemia

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.38
p 8.0e-30
N 394,626
Large GWAS
European

coronary artery disease

Aragam KG et al. “Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.” Nature Genetics 54(12):1803-1815 (2022)
Allele A
OR 0.82
p 3.0e-14
N 1,165,690
Large GWAS
European, NR

platelet-activating factor acetylhydrolase measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.18
p 1.0e-13
N 47,745
Large GWAS
European
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ClinVar annotation

Benign★★★★
27 submitters32 publications

Hypercholesterolemia, familial, 1; not specified; not provided; Familial hypercholesterolemia; Cardiovascular phenotype; LDLR-related disorder; Gastric cancer; Thymoma; Lung cancer; Familial cancer of breast; Uterine corpus endometrial carcinoma; Colon adenocarcinoma; Colorectal cancer; Sarcoma; Uterine carcinosarcoma; Cervical cancer; Acute myeloid leukemia; Malignant tumor of esophagus; Nonpapillary renal cell carcinoma; Adrenocortical carcinoma, hereditary

View on ClinVar →

About LDLR

The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022]

View all LDLR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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