rs7114102

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

Uterine leiomyoma

Pujol Gualdo N et al. “Atlas of genetic and phenotypic associations across 42 female reproductive health diagnoses.” Nature Medicine 31(5):1626-1634 (2025)
Allele A
OR 0.88
p 3.0e-19
N 295,291
Large GWAS
European
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Research that mentions this SNP (1)

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BET1L and TNRC6B associate with uterine fibroid risk among European Americans
AssociationN=2,635Todd L. Edwards et al.(2013)· Human Genetics

This association study tested SNPs from a prior Japanese GWAS for association with uterine fibroids in 1,086 European American cases and 1,549 controls from two U.S. cohorts (RFTS and BioVU). Two SNP associations replicated: BET1L rs2280543 (meta-OR=0.67, 95% CI 0.38-0.96, p=6.9×10⁻³) and TNRC6B rs12484776 (meta-OR=1.21, 95% CI 1.07-1.35, p=8.7×10⁻³). When combined with the prior Japanese GWAS, BET1L rs2280543 showed genome-wide significance (meta-OR=0.66, p=3.89×10⁻⁹), suggesting common variants increase uterine fibroid risk in both European American and Japanese populations.

Traits studied:Uterine fibroids
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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