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Standard

Mean corpuscular volume

ZEB2 · rs13389578

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−24, 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 153,950 Korean ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.077 lower (95% confidence interval 0.062-0.092); p = 1 × 10−24.

How common The C allele had a frequency of about 7% in the people studied.

Where it sits Chromosome 2, band 2q22.3 — in an intron of ZEB2.

How common each version is

CT
Korean KRGDB
C 7.6% · T 92.4%
Korean Korea4K
C 6.7% · T 93.3%
Korean Korea1K
C 7.5% · T 92.5%
Japanese ToMMo
C 7.9% · T 92.1%
Vietnamese
C 7.9% · T 92.1%
World gnomAD
C 14.3% · T 85.7%
World 1000 Genomes
C 15.4% · T 84.6%
World TOPMed
C 14.9% · T 85.1%

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

C/C Two copies of the version the research linked to Mean corpuscular volume. 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 Mean corpuscular volume. That is a smaller link than two copies.
T/T No copy of the version the research linked to Mean corpuscular volume. This is the starting point the study compared everyone against.
Source

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Mean corpuscular volume (rs13389578). MyGeneLog™. https://www.mygenelog.com/variants/rs13389578

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