rs139862664
This is a downstream gene variant variant in the ENO4 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
male infertility
Venkatesh SS et al. “Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.” Nature Genetics 57(5):1107-1118 (2025)
Allele G
OR 2.58
p 3.0e-8
N 1,006,868
Large GWAS
European, South Asian, African American or Afro-Caribbean, Other admixed ancestry, East Asian
About ENO4
Predicted to enable phosphopyruvate hydratase activity. Predicted to be involved in glycolytic process. Predicted to act upstream of or within cilium organization and flagellated sperm motility. Predicted to be located in sperm principal piece. Predicted to be part of phosphopyruvate hydratase complex. [provided by Alliance of Genome Resources, Jul 2025]
View all ENO4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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