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Standard

Monocyte count

near GATA6 · rs28631485

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−12, 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 639,696 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals.

The effect The reported allele is C; the catalogue records no effect size ; p = 1 × 10−12.

How common The C allele had a frequency of about 11% in the people studied.

Where it sits Chromosome 18, band 18q11.2 — in an intron of GATA6-AS1.

How common each version is

CT
Korean KRGDB
C 21.8% · T 78.2%
Korean Korea4K
C 21.7% · T 78.3%
Korean Korea1K
C 23.8% · T 76.1%
Japanese ToMMo
C 22.4% · T 77.6%
Vietnamese
C 24.9% · T 75.1%
World gnomAD
C 13.1% · T 86.9%
World 1000 Genomes
C 19.9% · T 80.1%
World TOPMed
C 14.2% · T 85.8%

By ancestry gnomAD

East Asian
C 20.9% · T 79.1%
European (non-Finnish)
C 8.4% · T 91.6%
African / African American
C 17.4% · T 82.6%
South Asian
C 18.3% · T 81.7%
Admixed American (Latino)
C 25.5% · T 74.5%
Middle Eastern
C 10.8% · T 89.2%
Finnish
C 5.7% · T 94.3%
Ashkenazi Jewish
C 11.4% · T 88.6%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races.

What each result means

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

Quoting this page

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Monocyte count (rs28631485). MyGeneLog™. https://www.mygenelog.com/variants/rs28631485

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