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Oxygenated hemoglobin levels

EPAS1 · rs372272284

What the study found

Who was studied 920 Tibetan ancestry individuals.

The effect Each copy of the G allele shifted the measure 0.386 g/dL lower; p = 6 × 10−9.

How common The G allele had a frequency of about 75% in the people studied.

Where it sits Chromosome 2, band 2p21 — in an intron of EPAS1.

What each result means

A/A Published research associates this genotype with typical/baseline likelihood of Oxygenated hemoglobin levels — no copies of the reported risk allele.
A/G Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Oxygenated hemoglobin levels.
G/G Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Oxygenated hemoglobin levels compared to the general population.
Source

Questions about rs372272284

What is rs372272284?

rs372272284 is a single position in the genome, in or near the EPAS1 gene. Published research associates it with oxygenated hemoglobin levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs372272284 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 rs372272284 come from?

GWAS Catalog, PLoS Genet 2018, PMID:30188897. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Oxygenated hemoglobin levels (rs372272284). MyGeneLog™. https://www.mygenelog.com/variants/rs372272284

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