rs72993806
This is a intron variant variant in the POGLUT3 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
Uterine leiomyoma, estrogen-receptor negative breast cancer
Wu X et al. “Investigating the shared genetic architecture of uterine leiomyoma and breast cancer: A genome-wide cross-trait analysis.” American Journal of Human Genetics 109(7):1272-1285 (2022)
Allele C
OR —
p 8.0e-16
N 430,421
Large GWAS
European
uterine fibroid
Gallagher CS et al. “Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis.” Nature Communications 10(1):4857 (2019)
Allele C
OR 0.09
p 5.0e-15
N 244,324
Large GWAS
European
About POGLUT3
Enables UDP-glucosyltransferase activity and UDP-xylosyltransferase activity. Involved in protein O-linked glycosylation via serine. Predicted to be located in endoplasmic reticulum lumen. Predicted to be active in endomembrane system. [provided by Alliance of Genome Resources, Jul 2025]
View all POGLUT3 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…