Standard

Mean corpuscular hemoglobin concentration

PVT1 · rs60975849

Where this position leads

Condition: Blood Cell Counts

rs60975849 Condition: Blood Cell Counts Blood Cell Counts Condition rs60975849 rs60975849 PVT1

Strength of the evidence

1 / 4

Its strongest genetic-study result is p = 10−14, 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 642,173 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 = 3 × 10−14.

How common The A allele had a frequency of about 28% in the people studied.

Where it sits Chromosome 8, band 8q24.21 — in an intron of PVT1.

How common each version is

AG
Korean KRGDB
A 11.5% · G 88.5%
Korean Korea4K
A 12.1% · G 87.9%
Korean Korea1K
A 10.9% · G 89.1%
Japanese ToMMo
A 10.8% · G 89.1%
Vietnamese
A 12.5% · G 87.5%
World gnomAD
A 25.2% · G 74.8%
World 1000 Genomes
A 20.2% · G 79.8%
World TOPMed
A 23.5% · G 76.5%

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 concentration. That is the strongest link of the three results. A link in a study is not a diagnosis.
A/G One copy of the version the research linked to Mean corpuscular hemoglobin concentration. That is a smaller link than two copies.
G/G No copy of the version the research linked to Mean corpuscular hemoglobin concentration. This is the starting point the study compared everyone against.
Source

Questions about rs60975849

What is rs60975849?

rs60975849 is a single position in the genome, in or near the PVT1 gene. Published research associates it with mean corpuscular hemoglobin concentration. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs60975849 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 rs60975849 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 rs60975849 come from?

GWAS Catalog, Cell 2020, PMID:32888493. 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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Mean corpuscular hemoglobin concentration (rs60975849). MyGeneLog™. https://www.mygenelog.com/variants/rs60975849

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