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Standard

Monocyte count

BBC3 · rs45474992

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−33, with 8 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 T; the catalogue records no effect size ; p = 1 × 10−14.

How common The T allele had a frequency of about 3% in the people studied.

Where it sits Chromosome 19, band 19q13.32 — in the 3′ untranslated region of BBC3.

How common each version is

CT
World gnomAD
C 97.7% · T 2.3%
World 1000 Genomes
C 98.5% · T 1.5%
World TOPMed
C 97.8% · T 2.2%

By ancestry gnomAD

East Asian
C 100.0%
European (non-Finnish)
C 96.6% · T 3.4%
African / African American
C 99.5% · T 0.5%
South Asian
C 97.2% · T 2.8%
Admixed American (Latino)
C 97.7% · T 2.3%
Middle Eastern
C 99.0% · T 1.0%
Finnish
C 95.9% · T 4.1%
Ashkenazi Jewish
C 99.8%

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. The ancestry rows are gnomAD's own groups (via Ensembl), as the survey defines them, not races. No Korean figure for this position yet.

What each result means

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

Quoting this page

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Monocyte count (rs45474992). MyGeneLog™. https://www.mygenelog.com/variants/rs45474992

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