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Standard

Monocyte count

near CRYBG2 · rs7416513

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−31, 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 639,696 African American or Afro-Caribbean, African ancestry, European ancestry, East Asian ancestry, Hispanic or Latin American and South Asian ancestry individuals.

The effect The reported allele is C; the catalogue records no effect size ; p = 4 × 10−32.

How common The C allele had a frequency of about 71% in the people studied.

Where it sits Chromosome 1, band 1p36.11 — between genes, 0.2 kb from CRYBG2.

How common each version is

CG
Korean KRGDB
C 46.0% · G 54.0%
Korean Korea4K
C 45.9% · G 54.1%
Korean Korea1K
C 46.8% · G 53.2%
Japanese ToMMo
C 42.4% · G 57.6%
Vietnamese
C 37.5% · G 62.5%
World gnomAD
C 69.9% · G 30.1%
World 1000 Genomes
C 58.4% · G 41.6%
World TOPMed
C 69.7% · G 30.3%

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/G One copy of the version the research linked to Monocyte count. That is a smaller link than two copies.
G/G 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 (rs7416513). MyGeneLog™. https://www.mygenelog.com/variants/rs7416513

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