EIF2AK4 · rs28714278
Where this position leads
Condition: Blood Cell Counts
What the study found
Who was studied 172,332 European ancestry individuals.
The effect Each copy of the A allele shifted the measure 0.0266 higher (95% confidence interval 0.018-0.035); p = 2 × 10−9.
How common The A allele had a frequency of about 20% in the people studied.
Where it sits Chromosome 15, band 15q15.1 — in an intron of EIF2AK4.
What ClinVar records
Classification
Benign; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2018-06-14.
ClinVar record 674666 NM_001013703.4(EIF2AK4):c.2632-168T>A
What this is ClinVar's aggregate record for this position (as of its 2026-09-24 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.
rs28714278 is a single position in the genome, in or near the EIF2AK4 gene. Published research associates it with mean corpuscular hemoglobin. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
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.
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.
GWAS Catalog, Cell 2016, PMID:27863252. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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.
Mean corpuscular hemoglobin (rs28714278). MyGeneLog™. https://www.mygenelog.com/variants/rs28714278