Genetic variant
rs5174 a variant in the LRP8 gene
rs5174 is a single-letter difference in the LRP8 gene, on chromosome 1. ClinVar, the public archive of variant interpretations, lists it as risk factor: linked to a somewhat higher chance of a condition, not a cause on its own. It has been reported in connection with Myocardial infarction, susceptibility to and 1. 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 rs5174 is the catalogue number of one of them, in the LRP8 gene. Which letters you carry there — one copy from each parent — is your genotype.
LRP8 (LDL receptor related protein 8): This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation.
Gene description from NCBI Gene
rs5174 encodes a variant of the LRP8 gene, encoding the low density lipoprotein receptor-related 8 p...
From SNPedia
Why might it matter?
ClinVar records this variant as risk factor, meaning linked to a somewhat higher chance of a condition, not a cause on its own. 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
- Myocardial infarction, susceptibility to
- 1
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 rs5174, 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?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- 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
- rs5174
- Gene
- LRP8
- Position (GRCh38)
- chr1:53247054
- Variant type
- snv
- Consequence
- missense variant
- ClinVar classification
- risk factor
Genome-wide association studies (12)
| Trait | Risk allele | OR / beta | P-value | Study |
|---|---|---|---|---|
| Low-density lipoprotein receptor-related protein 8 levels | T | OR 0.35 | 6E-47 | PubMed |
| Vertex-wise cortical thickness | T | OR 11.11 | 1E-28 | PubMed |
| Whole brain restricted directional diffusion (multivariate analysis) | — | — | 1E-26 | PubMed |
| Vertex-wise sulcal depth | T | OR 10.6 | 3E-26 | PubMed |
| Cortical thickness | T | — | 1E-17 | PubMed |
| Brain morphology (MOSTest) | — | — | 9E-15 | PubMed |
| Personality traits or cognitive traits (multivariate analysis) | — | — | 1E-13 | PubMed |
| Cortical surface area | T | — | 2E-12 | PubMed |
| Vertex-wise cortical surface area | T | OR 6.95 | 4E-12 | PubMed |
| Number of sexual partners in opposite-sex sexual behavior | C | OR 0.13 | 2E-11 | PubMed |
| Brain shape (segment 15) | — | — | 6E-10 | PubMed |
| General risk tolerance (MTAG) | T | β 0.007 | 1E-8 | PubMed |
How common the less frequent letter is
- gnomAD ALL
- 63.5%
- 1kG AFR
- 1.7%
- 1kG ALL
- 14.4%
- 1kG AMR
- 82.3%
- 1kG EAS
- 96.7%
- 1kG EUR
- 60.4%
- 1kG SAS
- 15%
Sources
- dbSNP: rs5174 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: LRP8
- Ensembl: LRP8
- GWAS Catalog — association studies