Gene Knowledge Graph
UTC
Standard

CDH2 protein levels

CDH2 · rs117905482

Where this position leads

Condition: Celiac Disease

rs117905482 Condition: Celiac Disease Celiac Disease Condition rs117905482 rs117905482 CDH2

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−16, 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 47,745 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.245 lower (95% confidence interval 0.18-0.31); p = 9 × 10−17.

How common The A allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 18, band 18q12.1 — in an intron of CDH2.

What each result means

A/A Two copies of the version the research linked to CDH2 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to CDH2 protein levels. That is a smaller link than two copies.
G/G No copy of the version the research linked to CDH2 protein levels. This is the starting point the study compared everyone against.
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 rs117905482

What is rs117905482?

rs117905482 is a single position in the genome, in or near the CDH2 gene. Published research associates it with cdh2 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 rs117905482 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 rs117905482 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 rs117905482 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

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

CDH2 protein levels (rs117905482). MyGeneLog™. https://www.mygenelog.com/variants/rs117905482

← See all variants