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Standard

white blood cell count (WBC, mean, inv-norm transformed)

BAZ2B · rs12692554

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−19, 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 108,896 African American or Afro-Caribbean individuals, 49,978 Hispanic or Latin American individuals, 5,839 East Asian ancestry individuals, 381,099 European ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.028 lower (95% confidence interval 0.022-0.034); p = 1 × 10−19.

How common The G allele had a frequency of about 61% in the people studied.

Where it sits Chromosome 2, band 2q24.2 — in an intron of BAZ2B.

How common each version is

AG
Korean KRGDB
A 37.1% · G 62.9%
Korean Korea4K
A 37.7% · G 62.3%
Korean Korea1K
A 37.7% · G 62.3%
Japanese ToMMo
A 27.8% · G 72.2%
Vietnamese
A 46.1% · G 53.9%
World gnomAD
A 41.5% · G 58.5%
World 1000 Genomes
A 43.2% · G 56.8%
World TOPMed
A 41.2% · G 58.8%

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 No copy of the version the research linked to white blood cell count (WBC, mean, inv-norm transformed). This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to white blood cell count (WBC, mean, inv-norm transformed). That is a smaller link than two copies.
G/G Two copies of the version the research linked to white blood cell count (WBC, mean, inv-norm transformed). That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

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white blood cell count (WBC, mean, inv-norm transformed) (rs12692554). MyGeneLog™. https://www.mygenelog.com/variants/rs12692554

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