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SEZ6L2 protein levels

REST · rs1961950

Where this position leads

Condition: Celiac Disease

rs1961950 Condition: Celiac Disease Celiac Disease Condition rs1961950 rs1961950 REST

Strength of the evidence

3 / 4

Its strongest genetic-study result is p = 10−60, 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 T allele shifted the measure 0.14 lower (95% confidence interval 0.12-0.16); p = 2 × 10−60.

How common The T allele had a frequency of about 8% in the people studied.

Where it sits Chromosome 4, band 4q12 — inside REST.

What each result means

C/C No copy of the version the research linked to SEZ6L2 protein levels. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to SEZ6L2 protein levels. That is a smaller link than two copies.
T/T Two copies of the version the research linked to SEZ6L2 protein levels. That is the strongest link of the three results. A link in a study is not a diagnosis.
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 rs1961950

What is rs1961950?

rs1961950 is a single position in the genome, in or near the REST gene. Published research associates it with sez6l2 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 rs1961950 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 rs1961950 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 rs1961950 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

SEZ6L2 protein levels (rs1961950). MyGeneLog™. https://www.mygenelog.com/variants/rs1961950

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