Standard

Platelet count

RUNX1 · rs4257458

Where this position leads

Condition: Blood Cell Counts

rs4257458 Condition: Blood Cell Counts Blood Cell Counts Condition rs4257458 rs4257458 RUNX1

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−24, 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 350,474 European ancestry individuals, 148,623 East Asian ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.0212 higher (95% confidence interval 0.017-0.025); p = 3 × 10−24.

Where it sits Chromosome 21, band 21q22.12 — in an intron of RUNX1.

What each result means

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

Questions about rs4257458

What is rs4257458?

rs4257458 is a single position in the genome, in or near the RUNX1 gene. Published research associates it with platelet count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4257458 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 rs4257458 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 rs4257458 come from?

GWAS Catalog, Nature genetics 2021, PMID:34594039. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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Platelet count (rs4257458). MyGeneLog™. https://www.mygenelog.com/variants/rs4257458

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