IRF8 · rs16939945
Where this position leads
Conditions: Monocyte Count, Blood Cell Counts
What the study found
Who was studied 234,690 European ancestry individuals; replicated in 100,494 European ancestry individuals.
The effect The reported allele is C; the catalogue records no effect size ; p = 3 × 10−45.
How common The C allele had a frequency of about 97% in the people studied.
Where it sits Chromosome 16, band 16q24.1 — a synonymous change in IRF8.
What ClinVar records
Classification
Benign for Immunodeficiency 32B, Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2026-02-01.
ClinVar record 475391 NM_002163.4(IRF8):c.432C>T (p.Asp144=)
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 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.
rs16939945 is a single position in the genome, in or near the IRF8 gene. Published research associates it with monocyte count. 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 Monocyte Count, 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, American journal of human genetics 2021, PMID:34469753. 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.
Monocyte count (rs16939945). MyGeneLog™. https://www.mygenelog.com/variants/rs16939945