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Body shape phenotype PC2

near HLA-C · rs116212401

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.

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 460,198 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0816 higher (95% confidence interval 0.062-0.101); p = 8 × 10⁻¹⁷.

How common The A allele had a frequency of about 99% in the people studied.

Where it sits Chromosome 6, band 6p21.33 — between genes, 22.2 kb from HLA-C.

How common each version is

AC

Korean Korea4K

A 100.0% · C 0.0%

World gnomAD

A 98.2% · C 1.8%

World 1000 Genomes

A 98.6% · C 1.4%

World TOPMed

A 98.2% · C 1.8%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study.

What each result means

A/A Two copies of the version the research linked to Body shape phenotype PC2. That is the strongest link of the three results. A link in a study is not a diagnosis.

A/C One copy of the version the research linked to Body shape phenotype PC2. That is a smaller link than two copies.

C/C No copy of the version the research linked to Body shape phenotype PC2. This is the starting point the study compared everyone against.

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 rs116212401

What is rs116212401?

rs116212401 is a single position in the genome, in or near the near HLA-C gene. Published research associates it with body shape phenotype pc2. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs116212401 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 rs116212401 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

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

Body shape phenotype PC2 (rs116212401). MyGeneLog™. https://www.mygenelog.com/variants/rs116212401

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