Standard

Mean corpuscular volume

PIBF1 · rs144254157

Where this position leads

Condition: Blood Cell Counts

rs144254157 Condition: Blood Cell Counts Blood Cell Counts Condition rs144254157 rs144254157 PIBF1

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−26, with 11 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 696,882 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals.

The effect The reported allele is G; the catalogue records no effect size ; p = 2 × 10−26.

How common The G allele had a frequency of about 100% in the people studied.

Where it sits Chromosome 13, band 13q22.1 — in an intron of PIBF1.

What each result means

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

Questions about rs144254157

What is rs144254157?

rs144254157 is a single position in the genome, in or near the PIBF1 gene. Published research associates it with mean corpuscular volume. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs144254157 linked to?

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

Does having rs144254157 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 rs144254157 come from?

GWAS Catalog, Cell 2020, PMID:32888493. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Mean corpuscular volume (rs144254157). MyGeneLog™. https://www.mygenelog.com/variants/rs144254157

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