Genetic variant

rs11053646 a variant in the OLR1 gene

rs11053646 is a single-letter difference in the OLR1 gene, on chromosome 12. ClinVar, the public archive of variant interpretations, lists it as benign: not known to cause disease. It has been reported in connection with Myocardial infarction, susceptibility to and OLR1-related disorder. Carrying it does not, on its own, mean you have or will develop any condition.

What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs11053646 is the catalogue number of one of them, in the OLR1 gene. Which letters you carry there — one copy from each parent — is your genotype.

OLR1 (oxidized low density lipoprotein receptor 1): 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.

Gene description from NCBI Gene

Why might it matter?

ClinVar records this variant as benign, meaning not known to cause disease. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

Do I have this variant?

If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs11053646, if your test read this position.

Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

What should I do next?

  1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
  2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
  3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
  4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.

This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID
rs11053646
Gene
OLR1
Position
chr12:10160849
ClinVar classification
Benign; risk factor

Genome-wide association studies (3)

TraitRisk alleleOR / betaP-valueStudy
MMP9/OLR1 protein level ratio — OR 0.2 7E-63 PubMed
MMP8/OLR1 protein level ratio — OR 0.19 4E-55 PubMed
OLR1 protein levels G OR 0.13 2E-38 PubMed

Sources