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White blood cell count (basophil)

FAM53B · rs4450131

Where this position leads

Condition: Blood Cell Counts

rs4450131 Condition: Blood Cell Counts Blood Cell Counts Condition rs4450131 rs4450131 FAM53B

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−9, with 2 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 171,846 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.022 higher (95% confidence interval 0.015-0.029); p = 5 × 10−10.

How common The C allele had a frequency of about 52% in the people studied.

Where it sits Chromosome 10, band 10q26.13 — in an intron of FAM53B.

How common each version is

CT
Korean KRGDB
C 41.5% · T 58.5%
Korean Korea4K
C 41.9% · T 58.1%
Japanese ToMMo
C 35.7% · T 64.3%
Vietnamese
C 42.1% · T 57.9%
World gnomAD
C 40.7% · T 59.3%
World 1000 Genomes
C 34.8% · T 65.2%
World TOPMed
C 39.3% · T 60.7%

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

C/C Two copies of the version the research linked to White blood cell count (basophil). 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 (basophil). That is a smaller link than two copies.
T/T No copy of the version the research linked to White blood cell count (basophil). This is the starting point the study compared everyone against.
Source

Questions about rs4450131

What is rs4450131?

rs4450131 is a single position in the genome, in or near the FAM53B gene. Published research associates it with white blood cell count (basophil). A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs4450131 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 rs4450131 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 rs4450131 come from?

GWAS Catalog, Cell 2016, PMID:27863252. 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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White blood cell count (basophil) (rs4450131). MyGeneLog™. https://www.mygenelog.com/variants/rs4450131

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