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Standard

Mean corpuscular hemoglobin

near KLF13 · rs75891547

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−29, with 10 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 486,823 European ancestry individuals.

The effect Each copy of the T allele shifted the measure 0.0786 SD unit lower (95% confidence interval 0.062-0.095); p = 5 × 10−21.

How common The T allele had a frequency of about 99% in the people studied.

Where it sits Chromosome 15, band 15q13.3 — between genes, 29.2 kb from LINC03034.

How common each version is

CT
Korean KRGDB
C 6.3% · T 93.7%
Korean Korea4K
C 6.2% · T 93.8%
Japanese ToMMo
C 7.4% · T 92.6%
Vietnamese
C 4.7% · T 95.3%
World gnomAD
C 4.5% · T 95.5%
World 1000 Genomes
C 6.3% · T 93.7%
World TOPMed
C 4.9% · T 95.1%

By ancestry gnomAD

East Asian
C 5.5% · T 94.5%
European (non-Finnish)
C 1.4% · T 98.6%
African / African American
C 11.3% · T 88.6%
South Asian
C 3.7% · T 96.4%
Admixed American (Latino)
C 2.5% · T 97.5%
Middle Eastern
C 4.1% · T 95.9%
Finnish
T 99.7%
Ashkenazi Jewish
C 2.9% · T 97.2%

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

C/C No copy of the version the research linked to Mean corpuscular hemoglobin. This is the starting point the study compared everyone against.
C/T One copy of the version the research linked to Mean corpuscular hemoglobin. That is a smaller link than two copies.
T/T Two copies of the version the research linked to Mean corpuscular hemoglobin. 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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Mean corpuscular hemoglobin (rs75891547). MyGeneLog™. https://www.mygenelog.com/variants/rs75891547

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