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Male infertility

ENO4 · rs139862664

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 10,886 European, South Asian, African American or Afro-Caribbean and other admixed ancestry female cases, 995,982 European, South Asian, African American or Afro-Caribbean and other admixed ancestry female cases female controls.

The effect Each copy of the G allele carried 2.58 times the odds of Male infertility (95% confidence interval 1.84-3.6); p = 3 × 10−8.

How common The G allele had a frequency of about 1% in the people studied.

Where it sits Chromosome 10, band 10q25.3 — in an intron of ENO4.

What each result means

C/C No copy of the version the research linked to Male infertility. This is the starting point the study compared everyone against.
C/G One copy of the version the research linked to Male infertility. That is a smaller link than two copies.
G/G Two copies of the version the research linked to Male infertility. That is the strongest link of the three results. A link in a study is not a diagnosis.
Source
Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum
Venkatesh SS, Wittemans LBL, Palmer DS, Baya NA, Ferreira T, Hill B, Lassen FH, Parker MJ, Reibe S, Elhakeem A, Banasik K, Bruun MT
and 39 more — show all
Erikstrup C, Aagard Jensen B, Juul A, Mikkelsen C, Nielsen HS, Ostrowski SR, Pedersen OB, Rohde PD, Sørensen E, Ullum H, Westergaard D, Haraldsson A, Holm H, Jonsdottir I, Olafsson I, Steingrimsdottir T, Steinthorsdottir V, Thorleifsson G, Figueredo J, Karjalainen MK, Pasanen A, Jacobs BM, Kalantzis G, Hubers N, Lippincott M, Fraser A, Lawlor DA, Timpson NJ, Nyegaard M, Stefansson K, Magi R, Laivuori H, van Heel DA, Boomsma DI, Balasubramanian R, Seminara SB, Chan YM, Laisk T, Lindgren CM
Genes & Health Research Team · Estonian Biobank Research Team · Estonian Health Informatics Research Team · DBDS Genomic Consortium · FinnGen
Nature genetics · 2025 · PMID 40229599 · open access

Questions about rs139862664

What is rs139862664?

rs139862664 is a single position in the genome, in or near the ENO4 gene. Published research associates it with male infertility. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs139862664 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 rs139862664 come from?

GWAS Catalog, Nature genetics 2025, PMID:40229599. 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.

Male infertility (rs139862664). MyGeneLog™. https://www.mygenelog.com/variants/rs139862664

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