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White blood cell count

SPC25 · rs483109

Where this position leads

Condition: Blood Cell Counts

rs483109 Condition: Blood Cell Counts Blood Cell Counts Condition rs483109 rs483109 SPC25

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−8, 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 154,355 East Asian ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.02 lower (95% confidence interval 0.013-0.027); p = 5 × 10−9.

How common The C allele had a frequency of about 54% in the people studied.

Where it sits Chromosome 2, band 2q24.3 — inside SPC25.

What each result means

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

Questions about rs483109

What is rs483109?

rs483109 is a single position in the genome, in or near the SPC25 gene. Published research associates it with white blood cell 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 rs483109 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 rs483109 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 rs483109 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.

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

White blood cell count (rs483109). MyGeneLog™. https://www.mygenelog.com/variants/rs483109

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