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Hemoglobin levels

ATP5O · rs4842

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

What the study found

Who was studied 684,122 European ancestry individuals.

The effect Each copy of the C allele shifted the measure 0.028 higher; p = 4 × 10−15.

Where it sits Chromosome 21, band 21q22.11 — a missense change in ATP5PO.

What each result means

C/C Published research associates this genotype (two copies of the reported risk allele) with a higher likelihood of Hemoglobin levels compared to the general population.
C/T Published research associates this genotype (one copy of the reported risk allele) with an intermediate association with Hemoglobin levels.
T/T Published research associates this genotype with typical/baseline likelihood of Hemoglobin levels — no copies of the reported risk allele.
Source
Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis
Oskarsson GR, Oddsson A, Magnusson MK, Kristjansson RP, Halldorsson GH, Ferkingstad E, Zink F, Helgadottir A, Ivarsdottir EV, Arnadottir GA, Jensson BO, Katrinardottir H
and 26 more — show all
Sveinbjornsson G, Kristinsdottir AM, Lee AL, Saemundsdottir J, Stefansdottir L, Sigurdsson JK, Davidsson OB, Benonisdottir S, Jonasdottir A, Jonasdottir A, Jonsson S, Gudmundsson RL, Asselbergs FW, Tragante V, Gunnarsson B, Masson G, Thorleifsson G, Rafnar T, Holm H, Olafsson I, Onundarson PT, Gudbjartsson DF, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K
Communications biology · 2020 · PMID 32327693 · open access

Questions about rs4842

What is rs4842?

rs4842 is a single position in the genome, in or near the ATP5O gene. Published research associates it with 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 rs4842 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 rs4842 come from?

GWAS Catalog, Communications biology 2020, PMID:32327693. 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.

Hemoglobin levels (rs4842). MyGeneLog™. https://www.mygenelog.com/variants/rs4842

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