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Red cell distribution width

TMPRSS6 · rs228910

Strength of the evidence

2 / 4

Its strongest genetic-study result is p = 10−22, 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 408,112 British individuals.

The effect Each copy of the G allele shifted the measure 0.0271 higher (95% confidence interval 0.022-0.033); p = 2 × 10−22.

How common The G allele had a frequency of about 62% in the people studied.

Where it sits Chromosome 22, band 22q12.3 — in an intron of TMPRSS6.

How common each version is

AG
Korean KRGDB
A 48.4% · G 51.6%
Korean Korea4K
A 47.2% · G 52.8%
Korean Korea1K
A 46.4% · G 53.6%
Japanese ToMMo
A 43.5% · G 56.5%
Vietnamese
A 54.3% · G 45.7%
World gnomAD
A 41.1% · G 58.9%
World 1000 Genomes
A 47.3% · G 52.7%
World TOPMed
A 40.7% · G 59.3%

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 No copy of the version the research linked to Red cell distribution width. This is the starting point the study compared everyone against.
A/G One copy of the version the research linked to Red cell distribution width. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Red cell distribution width. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs228910

What is rs228910?

rs228910 is a single position in the genome, in or near the TMPRSS6 gene. Published research associates it with red cell distribution width. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs228910 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 rs228910 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

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Red cell distribution width (rs228910). MyGeneLog™. https://www.mygenelog.com/variants/rs228910

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