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Standard

Neutrophil count

near KIT · rs7684939

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−14, with 3 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 234,802 European ancestry individuals; replicated in 100,556 European ancestry individuals.

The effect The reported allele is G; the catalogue records no effect size ; p = 4 × 10−15.

How common The G allele had a frequency of about 51% in the people studied.

Where it sits Chromosome 4, band 4q12 — between genes, 14.2 kb from KIT.

How common each version is

AG
Korean KRGDB
A 32.0% · G 68.0%
Korean Korea4K
A 32.8% · G 67.2%
Korean Korea1K
A 33.8% · G 66.2%
Japanese ToMMo
A 31.6% · G 68.5%
Vietnamese
A 33.2% · G 66.8%
World gnomAD
A 42.2% · G 57.8%
World 1000 Genomes
A 38.9% · G 61.1%
World TOPMed
A 42.0% · G 58.0%

By ancestry gnomAD

East Asian
A 33.1% · G 66.9%
European (non-Finnish)
A 47.7% · G 52.3%
African / African American
A 29.7% · G 70.3%
South Asian
A 42.3% · G 57.7%
Admixed American (Latino)
A 50.1% · G 49.9%
Middle Eastern
A 34.4% · G 65.6%
Finnish
A 49.5% · G 50.5%
Ashkenazi Jewish
A 42.8% · G 57.2%

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 Neutrophil count. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Neutrophil count. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Neutrophil 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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Neutrophil count (rs7684939). MyGeneLog™. https://www.mygenelog.com/variants/rs7684939

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