rs11053646

This is a variant in the OLR1 gene that changes a lysine to an asparagine.

GWAS Catalog Trait Associations (1)

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

oxidized low-density lipoprotein receptor 1 amount

Allele G
OR 0.13
p 2.0e-38
N 47,745
Large GWAS
European

ClinVar annotation

Risk Factor
2 submitters1 publication

Myocardial infarction, susceptibility to; OLR1-related disorder

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About OLR1

This gene encodes a low density lipoprotein receptor that belongs to the C-type lectin superfamily. This gene is regulated through the cyclic AMP signaling pathway. The encoded protein binds, internalizes and degrades oxidized low-density lipoprotein. This protein may be involved in the regulation of Fas-induced apoptosis. This protein may play a role as a scavenger receptor. Mutations of this gene have been associated with atherosclerosis, risk of myocardial infarction, and may modify the risk of Alzheimer's disease. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Feb 2010]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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