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Body shape phenotype PC4

EHBP1L1 · rs948578

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 460,198 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.00455 higher (95% confidence interval 0.0032-0.0059); p = 2 × 10⁻¹⁰.

How common The C allele had a frequency of about 51% in the people studied.

Where it sits Chromosome 11, band 11q13.1 — in an intron of EHBP1L1.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Body shape phenotype PC4 compared to the general population.

C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Body shape phenotype PC4.

T/T Published research associates this genotype with typical/baseline likelihood of Body shape phenotype PC4 — no copies of the reported risk allele.

Source

Tissue-specific genetic variation suggests distinct molecular pathways between body shape phenotypes and colorectal cancer

Peruchet-Noray L, Sedlmeier AM, Dimou N, Baurecht H, Fervers B, Fontvieille E, Konzok J, Tsilidis KK, Christakoudi S, Jansana A, Cordova R, Bohmann P

and 18 more — show all

Stein MJ, Weber A, Bézieau S, Brenner H, Chan AT, Cheng I, Figueiredo JC, Garcia-Etxebarria K, Moreno V, Newton CC, Schmit SL, Song M, Ulrich CM, Ferrari P, Viallon V, Carreras-Torres R, Gunter MJ, Freisling H

Science advances · 2024 · PMID 38640244 · open access

Questions about rs948578

What is rs948578?

rs948578 is a single position in the genome, in or near the EHBP1L1 gene. Published research associates it with body shape phenotype pc4. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs948578 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 rs948578 come from?

GWAS Catalog, Science advances 2024, PMID:38640244. 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.

Body shape phenotype PC4 (rs948578). MyGeneLog™. https://www.mygenelog.com/variants/rs948578

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