Links from this page to related variants, conditions, drugs and topics are not included for automated readers. Those connections are the Gene Knowledge Graph and are licensed as data: https://www.mygenelog.com/license

Standard

Mean corpuscular hemoglobin

near CBFA2T3 · rs146008976

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−17, with 5 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 408,112 British individuals.

The effect Each copy of the T allele shifted the measure 0.116 lower (95% confidence interval 0.09-0.143); p = 8 × 10−18.

How common The T allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 16, band 16q24.3 — between genes, 51.3 kb from CBFA2T3.

How common each version is

CT
Korean Korea4K
C 100.0% · T 0.0%
Japanese ToMMo
C 100.0%
World gnomAD
C 99.4% · T 0.7%
World 1000 Genomes
C 99.6% · T 0.4%
World TOPMed
C 99.2% · T 0.8%

By ancestry gnomAD

East Asian
C 100.0%
European (non-Finnish)
C 99.1% · T 0.9%
African / African American
C 99.8%
South Asian
C 99.9%
Admixed American (Latino)
C 98.8% · T 1.2%
Middle Eastern
C 99.0% · T 1.0%
Finnish
C 99.7%
Ashkenazi Jewish
C 98.2% · T 1.8%

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

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Mean corpuscular hemoglobin (rs146008976). MyGeneLog™. https://www.mygenelog.com/variants/rs146008976

← See all variants