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Standard

Monocyte count

UQCRC2P1 · rs140058837

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−24, with 4 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 408,112 British individuals.

The effect Each copy of the G allele shifted the measure 0.0456 higher (95% confidence interval 0.031-0.06); p = 8 × 10−10.

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

Where it sits Chromosome 3, band 3p21.31 — between genes, 1.2 kb from UQCRC2P1.

How common each version is

AG
Korean Korea4K
A 100.0% · G 0.0%
World gnomAD
A 97.9% · G 2.1%
World 1000 Genomes
A 98.8% · G 1.2%
World TOPMed
A 97.7% · G 2.3%

By ancestry gnomAD

European (non-Finnish)
A 96.8% · G 3.2%
African / African American
A 99.1% · G 0.9%
South Asian
A 99.3% · G 0.7%
Admixed American (Latino)
A 96.9% · G 3.1%
Middle Eastern
A 95.9% · G 4.1%
Finnish
A 99.3% · G 0.7%
Ashkenazi Jewish
A 98.9% · G 1.1%

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

A/A No copy of the version the research linked to Monocyte count. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Monocyte count. That is a smaller link than two copies.
G/G 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 (rs140058837). MyGeneLog™. https://www.mygenelog.com/variants/rs140058837

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