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Serum erythropoietin levels

EPOR · rs370865377

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 2,994 Icelandic ancestry individuals, 1,193 non-array typed, familial imputed Icelandic ancestry individuals; replicated in 68 Icelandic ancestry individuals.

The effect Each copy of the A allele shifted the measure 1.47 higher (95% confidence interval 0.91-2.03); p = 2 × 10⁻¹¹.

How common The A allele had a frequency of about 9% in the people studied.

Where it sits Chromosome 19, band 19p13.2 — a stop-gain change in EPOR.

What ClinVar records

Classification Conflicting classifications of pathogenicity; criteria provided, conflicting classifications (1 of 4 stars, 2 submitters), last evaluated 2025-07-29. ClinVar record 432048 NM_000121.4(EPOR):c.244C>T (p.Gln82Ter)

What this is ClinVar's aggregate record for this position (as of its 2026-10-12 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.

What each result means

A/A Two copies of the version the research linked to Serum erythropoietin levels. 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 Serum erythropoietin levels. That is a smaller link than two copies.

G/G No copy of the version the research linked to Serum erythropoietin levels. This is the starting point the study compared everyone against.

Source

A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin

Oskarsson GR, Kristjansson RP, Lee AL, Sveinbjornsson G, Magnusson MK, Ivarsdottir EV, Benonisdottir S, Oddsson A, Davidsson OB, Saemundsdottir J, Halldorsson GH, Arthur J

and 11 more — show all

Arnadottir GA, Masson G, Jensson BO, Holm H, Olafsson I, Onundarson PT, Gudbjartsson DF, Norddahl GL, Thorsteinsdottir U, Sulem P, Stefansson K

Communications biology · 2018 · PMID 30271932 · open access

Questions about rs370865377

What is rs370865377?

rs370865377 is a single position in the genome, in or near the EPOR gene. Published research associates it with serum erythropoietin levels. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs370865377 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 rs370865377 come from?

GWAS Catalog, Commun Biol 2018, PMID:30271932. 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.

Serum erythropoietin levels (rs370865377). MyGeneLog™. https://www.mygenelog.com/variants/rs370865377

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