Standard

CDH5 protein levels

near SLC2A6 · rs3124757

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−74, 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 G allele shifted the measure 0.101 lower (95% confidence interval 0.089-0.112); p = 5 × 10−75.

How common The G allele had a frequency of about 45% in the people studied.

Where it sits Chromosome 9, band 9q34.2 — between genes, 1.8 kb from SLC2A6.

What each result means

A/A No copy of the version the research linked to CDH5 protein levels. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to CDH5 protein levels. That is a smaller link than two copies.
G/G Two copies of the version the research linked to CDH5 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs3124757

What is rs3124757?

rs3124757 is a single position in the genome, in or near the near SLC2A6 gene. Published research associates it with cdh5 protein levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs3124757 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 rs3124757 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

CDH5 protein levels (rs3124757). MyGeneLog™. https://www.mygenelog.com/variants/rs3124757

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