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Standard

White blood cell count (basophil)

AFF1 · rs56390363

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 171,846 European ancestry individuals.

The effect Each copy of the A allele shifted the measure 0.0456 lower (95% confidence interval 0.037-0.054); p = 1 × 10−24.

How common The A allele had a frequency of about 19% in the people studied.

Where it sits Chromosome 4, band 4q21.3 — in an intron of AFF1.

How common each version is

AG
Korean KRGDB
A 28.7% · G 71.3%
Korean Korea4K
A 28.3% · G 71.7%
Japanese ToMMo
A 36.5% · G 63.5%
Vietnamese
A 28.4% · G 71.6%
World gnomAD
A 20.7% · G 79.3%
World 1000 Genomes
A 21.1% · G 78.8%
World TOPMed
A 20.8% · G 79.2%

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 White blood cell count (basophil). That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to White blood cell count (basophil). That is a smaller link than two copies.
G/G 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

Quoting this page

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White blood cell count (basophil) (rs56390363). MyGeneLog™. https://www.mygenelog.com/variants/rs56390363

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