rs17248720

This variant is located in the LDLR gene.

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GWAS Catalog Trait Associations (7)

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

metabolic syndrome

Guindo-Martínez M et al. “The impact of non-additive genetic associations on age-related complex diseases.” Nature Communications 12(1):2436 (2021)
Allele T
OR 0.72
p 1.0e-61
N 56,637
Large GWAS
European

fatty acid amount

Sun Y et al. “GWAS and multi-omics integrative analysis reveal novel loci and their molecular mechanisms for circulating fatty acids.” Hgg Advances 6(4):100470 (2025)
Allele T
OR —
p 4.0e-18
N 110,346
Large GWAS
European

familial hyperlipidemia

Trinder M et al. “Polygenic architecture and cardiovascular risk of familial combined hyperlipidemia.” Atherosclerosis 340:35-43 (2022)
Allele C
OR 0.26
p 1.0e-14
N 349,222
Large GWAS
European

phospholipids:total lipids ratio

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.02
p 8.0e-13
N 450,015
Large GWAS
multi-ancestry

metabolite measurement, diet measurement

Dong X et al. “Unprocessed Red Meat and Processed Meat Consumption, Plasma Metabolome, and Risk of Ischemic Heart Disease: A Prospective Cohort Study of UK Biobank.” Journal of the American Heart Association 12(7):e027934 (2023)
Allele T
OR —
β 0.036
p 1.0e-8
N 92,246
Major Consortium StudyLarge GWAS
European
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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication

Hypercholesterolemia, familial, 1

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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