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Its strongest genetic-study result is p = 10−9, with 1 associations in the GWAS Catalog.
How this is scored
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What the study found
Who was studied 1,122,049 European ancestry individuals.
The effect
Each copy of the C allele shifted the measure 0.0117 lower (95% confidence interval 0.0078-0.0156); p = 2 × 10−9.
Where it sits Chromosome 5, band 5q21.3 — in an intron of EFNA5.
What each result means
C/CTwo copies of the version the research linked to Body mass index. That is the strongest link of the three results. A link in a study is not a diagnosis.
C/TOne copy of the version the research linked to Body mass index. That is a smaller link than two copies.
T/TNo copy of the version the research linked to Body mass index. This is the starting point the study compared everyone against.
Nature communications · 2022 · PMID 36581621 · open access
Questions about rs252818
What is rs252818?
rs252818 is a single position in the genome, in or near the EFNA5 gene. Published research associates it with body mass index. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs252818 linked to?
On MyGeneLog this position is linked to Obesity and Body Weight, Childhood Body Mass Index. The research behind each link, and its sources, are set out on that condition page.
Does having rs252818 mean I will get this?
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
Where does the information about rs252818 come from?
GWAS Catalog, Nature communications 2022, PMID:36581621. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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Quoting this page
Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.
Body mass index (rs252818). MyGeneLog™. https://www.mygenelog.com/variants/rs252818