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Stands on its own.
Nothing else here links to this position yet — but the page above is the point: what the
research found, what each genotype means, and where it came from, in language you can
read. Links to conditions, drugs and the senses appear automatically if we write them.
Strength of the evidence
2 / 4
Its strongest genetic-study result is p = 10−35, 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 630,125 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 A; the catalogue records no effect size
; p = 1 × 10−35.
How common The A allele had a frequency of about 32% in the people studied.
Where it sits Chromosome 5, band 5q14.3 — in an intron of MEF2C.
How common each version is
AG
KoreanKRGDB
A 47.8% · G 52.2%
KoreanKorea4K
A 47.0% · G 53.0%
KoreanKorea1K
A 47.3% · G 52.7%
Japanese ToMMo
A 48.2% · G 51.8%
Vietnamese
A 22.6% · G 77.4%
World gnomAD
A 37.5% · G 62.5%
World 1000 Genomes
A 42.6% · G 57.4%
World TOPMed
A 40.3% · G 59.7%
By ancestry gnomAD
East Asian
A 34.3% · G 65.7%
European (non-Finnish)
A 26.1% · G 73.9%
African / African American
A 59.2% · G 40.8%
South Asian
A 36.8% · G 63.2%
Admixed American (Latino)
A 40.6% · G 59.4%
Middle Eastern
A 39.4% · G 60.6%
Finnish
A 24.4% · G 75.6%
Ashkenazi Jewish
A 35.2% · G 64.8%
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
A/ATwo 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.
A/GOne copy of the version the research linked to Mean corpuscular hemoglobin. That is a smaller link than two copies.
G/GNo copy of the version the research linked to Mean corpuscular hemoglobin. This is the starting point the study compared everyone against.
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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 (rs160045). MyGeneLog™. https://www.mygenelog.com/variants/rs160045