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Who was studied 47,745 European ancestry individuals.
The effect
Each copy of the A allele shifted the measure 0.268 higher (95% confidence interval 0.22-0.32); p = 1 × 10−28.
How common The A allele had a frequency of about 2% in the people studied.
Where it sits Chromosome 19, band 19q13.42 — between genes, 3.3 kb from KIR3DX1.
What each result means
A/ATwo copies of the version the research linked to KIR2DS4 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/GOne copy of the version the research linked to KIR2DS4 protein levels. That is a smaller link than two copies.
G/GNo copy of the version the research linked to KIR2DS4 protein levels. This is the starting point the study compared everyone against.
Nature genetics · 2025 · PMID 39789286 · open access
Questions about rs142912517
What is rs142912517?
rs142912517 is a single position in the genome, in or near the near KIR3DX1 gene. Published research associates it with kir2ds4 protein levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
What conditions is rs142912517 linked to?
On MyGeneLog this position is linked to Celiac Disease. The research behind each link, and its sources, are set out on that condition page.
Does having rs142912517 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 rs142912517 come from?
GWAS Catalog, Nature genetics 2025, PMID:39789286. 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.
KIR2DS4 protein levels (rs142912517). MyGeneLog™. https://www.mygenelog.com/variants/rs142912517