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CDHR2 protein levels

PBXIP1 · rs6695407

Where this position leads

Condition: Celiac Disease

rs6695407 Condition: Celiac Disease Celiac Disease Condition rs6695407 rs6695407 PBXIP1

What the study found

Who was studied 47,745 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.116 lower (95% confidence interval 0.085-0.147); p = 4 × 10−15.

How common The A allele had a frequency of about 3% in the people studied.

Where it sits Chromosome 1, band 1q21.3 — in an intron of PBXIP1.

What each result means

A/A Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of CDHR2 protein levels compared to the general population.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with CDHR2 protein levels.
G/G Published research associates this genotype with typical/baseline likelihood of CDHR2 protein levels — no copies of the reported risk allele.
Source
A scalable variational inference approach for increased mixed-model association power
Loya H, Kalantzis G, Cooper F, Palamara PF
Nature genetics · 2025 · PMID 39789286 · open access

Questions about rs6695407

What is rs6695407?

rs6695407 is a single position in the genome, in or near the PBXIP1 gene. Published research associates it with cdhr2 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 rs6695407 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 rs6695407 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 rs6695407 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.

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.

CDHR2 protein levels (rs6695407). MyGeneLog™. https://www.mygenelog.com/variants/rs6695407

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