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Monocyte count

SMG6 · rs9915112

Where this position leads

Conditions: Blood Cell Counts, Monocyte Count

rs9915112 Condition: Blood Cell Counts Blood Cell Counts Condition Condition: Monocyte Count Monocyte Count Condition rs9915112 rs9915112 SMG6

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−31, with 6 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 G allele shifted the measure 0.0266 SD unit lower (95% confidence interval 0.022-0.031); p = 4 × 10−30.

How common The G allele had a frequency of about 20% in the people studied.

Where it sits Chromosome 17, band 17p13.3 — in an intron of SMG6.

How common each version is

AG
Korean KRGDB
A 76.7% · G 23.3%
Korean Korea4K
A 75.5% · G 24.5%
Korean Korea1K
A 76.1% · G 23.9%
Japanese ToMMo
A 80.1% · G 19.9%
World gnomAD
A 69.1% · G 30.9%
World 1000 Genomes
A 65.3% · G 34.7%
World TOPMed
A 67.9% · G 32.1%

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.

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

Questions about rs9915112

What is rs9915112?

rs9915112 is a single position in the genome, in or near the SMG6 gene. Published research associates it with monocyte count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs9915112 linked to?

On MyGeneLog this position is linked to Blood Cell Counts, Monocyte Count. The research behind each link, and its sources, are set out on that condition page.

Does having rs9915112 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs9915112 come from?

GWAS Catalog, Cell 2020, PMID:32888493. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

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Monocyte count (rs9915112). MyGeneLog™. https://www.mygenelog.com/variants/rs9915112

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