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Standard

Monocyte count

near SGK2 · rs743998

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−13, 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 521,594 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.0188 SD unit lower (95% confidence interval 0.014-0.024); p = 8 × 10−13.

How common The C allele had a frequency of about 84% in the people studied.

Where it sits Chromosome 20, band 20q13.12 — between genes, 2.1 kb from SGK2.

How common each version is

CT
Korean KRGDB
C 79.3% · T 20.7%
Korean Korea4K
C 78.7% · T 21.3%
Korean Korea1K
C 80.1% · T 19.9%
Japanese ToMMo
C 78.9% · T 21.1%
Vietnamese
C 78.2% · T 21.8%
World gnomAD
C 82.5% · T 17.5%
World 1000 Genomes
C 81.0% · T 19.1%
World TOPMed
C 82.0% · T 18.0%

By ancestry gnomAD

East Asian
C 77.9% · T 22.1%
European (non-Finnish)
C 84.7% · T 15.3%
African / African American
C 76.0% · T 23.9%
South Asian
C 78.3% · T 21.7%
Admixed American (Latino)
C 86.3% · T 13.7%
Middle Eastern
C 78.9% · T 21.1%
Finnish
C 91.1% · T 8.9%
Ashkenazi Jewish
C 87.0% · T 13.1%

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

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 (rs743998). MyGeneLog™. https://www.mygenelog.com/variants/rs743998

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