rs12484776

This is a intron variant variant in the TNRC6B gene.

▶

GWAS Catalog Trait Associations (1)

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

uterine fibroid

Cha PC et al. “A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.” Nature Genetics 43(5):447-50 (2011)
Allele G
OR 1.23
p 3.0e-12
N 3,035
Large GWAS
East Asian
▶

Research that mentions this SNP (2)

▶
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
▶
Variants in BET1L and TNRC6B associate with increasing fibroid volume and fibroid type among European Americans
AssociationN=2,005Todd L. Edwards et al.(2013)· Human Genetics

This study examined three previously GWAS-identified SNPs (rs7913069, rs2280543, rs12484776) for association with uterine fibroid characteristics in 456 European American cases and 1,549 controls. TNRC6B rs12484776 associated with increased fibroid volume (Beta=0.40, p=0.024) and the largest volume category (OR=2.19, p=0.031). Meta-analysis showed BET1L rs2280543 strongly associated with intramural fibroids (metaOR=0.51, p=2.48×10^-6), suggesting genetic risk varies by fibroid sub-phenotypes.

Traits studied:Fibroid typeFibroid volumeIntramural fibroidsSubmucous fibroidsSubserous fibroidsUterine fibroids
PubMedDOIMetascience Observatory

About TNRC6B

Enables RNA binding activity. Involved in positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay; positive regulation of nuclear-transcribed mRNA poly(A) tail shortening; and regulatory ncRNA-mediated gene silencing. Acts upstream of with a positive effect on miRNA-mediated gene silencing by inhibition of translation. Predicted to be located in cytosol. Predicted to be active in P-body and nucleoplasm. Implicated in subserous uterine fibroid and uterine fibroid. [provided by Alliance of Genome Resources, Jul 2025]

View all TNRC6B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…