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High light scatter reticulocyte count

DNMT3A · rs747792

Strength of the evidence

1 / 4

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

The effect Each copy of the T allele shifted the measure 0.0158 higher (95% confidence interval 0.011-0.021); p = 1 × 10−10.

How common The T allele had a frequency of about 69% in the people studied.

Where it sits Chromosome 2, band 2p23.3 — in an intron of DNMT3A.

How common each version is

AT
Korean KRGDB
A 43.2% · T 56.8%
Korean Korea4K
A 41.5% · T 58.5%
Korean Korea1K
A 42.1% · T 57.9%
Japanese ToMMo
A 43.9% · T 56.1%
Vietnamese
A 37.4% · T 62.6%
World gnomAD
A 34.5% · T 65.5%
World 1000 Genomes
A 40.6% · T 59.4%
World TOPMed
A 35.4% · T 64.6%

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 High light scatter reticulocyte count. This is the starting point the study compared everyone against.
A/T One copy of the version the research linked to High light scatter reticulocyte count. That is a smaller link than two copies.
T/T Two copies of the version the research linked to High light scatter reticulocyte count. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source

Questions about rs747792

What is rs747792?

rs747792 is a single position in the genome, in or near the DNMT3A gene. Published research associates it with high light scatter reticulocyte count. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs747792 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 rs747792 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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High light scatter reticulocyte count (rs747792). MyGeneLog™. https://www.mygenelog.com/variants/rs747792

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