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Irritable bowel syndrome

EP300 · rs20551

Where this position leads

Condition: Irritable Bowel Syndrome

rs20551 Condition: Irritable Bowel Syndrome Irritable Bowel Syndrome Condition rs20551 rs20551 EP300

What the study found

Who was studied 69,194 European ancestry cases, 733,075 European ancestry controls.

The effect Each copy of the A allele shifted the measure 0.0397 lower; p = 1 × 10−9.

Where it sits Chromosome 22, band 22q13.2 — a missense change in EP300.

What ClinVar records

Classification Benign for Menke-Hennekam syndrome 2, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 9 submitters), last evaluated 2026-02-04. ClinVar record 93736 NM_001429.4(EP300):c.2989A>G (p.Ile997Val)

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Two copies of the version the research linked to Irritable bowel syndrome. 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 Irritable bowel syndrome. That is a smaller link than two copies.
G/G No copy of the version the research linked to Irritable bowel syndrome. This is the starting point the study compared everyone against.
Source
Large-scale meta- and cross-trait analyses uncover shared genetic risk factors for IBS and psychiatric disorders
Ye W, Ding H, Peng B, Wang X, Cheng Y, Zhang G, Yu H, Ullah K, Chang X, Wang X, Wang Z
Frontiers in psychiatry · 2026 · PMID 42221328 · open access

Questions about rs20551

What is rs20551?

rs20551 is a single position in the genome, in or near the EP300 gene. Published research associates it with irritable bowel syndrome. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs20551 linked to?

On MyGeneLog this position is linked to Irritable Bowel Syndrome. The research behind each link, and its sources, are set out on that condition page.

Does having rs20551 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 rs20551 come from?

GWAS Catalog, Frontiers in psychiatry 2026, PMID:42221328. 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.

Irritable bowel syndrome (rs20551). MyGeneLog™. https://www.mygenelog.com/variants/rs20551

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