Standard

Mean corpuscular hemoglobin

near GJA1 · rs28557115

Where this position leads

Condition: Blood Cell Counts

rs28557115 Condition: Blood Cell Counts Blood Cell Counts Condition rs28557115 rs28557115 near GJA1

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−26, with 8 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 A allele shifted the measure 0.0234 lower (95% confidence interval 0.018-0.029); p = 3 × 10−18.

How common The A allele had a frequency of about 20% in the people studied.

Where it sits Chromosome 6, band 6q22.31 — between genes, 18.3 kb from RNU4-35P.

How common each version is

AT
Korean KRGDB
A 37.5% · T 62.5%
Korean Korea4K
A 35.1% · T 64.9%
Japanese ToMMo
A 33.7% · T 66.3%
World gnomAD
A 19.3% · T 80.7%
World 1000 Genomes
A 13.8% · T 86.2%

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.

What each result means

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

Questions about rs28557115

What is rs28557115?

rs28557115 is a single position in the genome, in or near the near GJA1 gene. Published research associates it with mean corpuscular hemoglobin. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs28557115 linked to?

On MyGeneLog this position is linked to Blood Cell Counts. The research behind each link, and its sources, are set out on that condition page.

Does having rs28557115 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs28557115 come from?

GWAS Catalog, Cell 2020, PMID:32888494. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

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 (rs28557115). MyGeneLog™. https://www.mygenelog.com/variants/rs28557115

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