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Standard

Monocyte count

near HLX · rs12022930

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−18, with 1 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 0.0167 SD unit higher (95% confidence interval 0.013-0.02); p = 1 × 10−18.

How common The C allele had a frequency of about 57% in the people studied.

Where it sits Chromosome 1, band 1q41 — between genes, 82.4 kb from HLX.

How common each version is

CT
Korean KRGDB
C 40.8% · T 59.2%
Korean Korea4K
C 40.1% · T 59.9%
Korean Korea1K
C 39.6% · T 60.4%
Japanese ToMMo
C 41.0% · T 59.0%
Vietnamese
C 33.6% · T 66.4%
World gnomAD
C 47.3% · T 52.7%
World 1000 Genomes
C 37.8% · T 62.2%
World TOPMed
C 46.5% · T 53.5%

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

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 (rs12022930). MyGeneLog™. https://www.mygenelog.com/variants/rs12022930

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