rs13129471
This is a upstream gene variant variant in the UGT2B4 gene.
▶Research that mentions this SNP (1)
▶A signature of balancing selection in the region upstream to the human UGT2B4 gene and implications for breast cancer riskAssociationN=2,086Sun C. et al.(2011)· Human Genetics
This study identified a signature of balancing selection in the upstream region of the UGT2B4 gene through resequencing of 56 HapMap samples, revealing an excess of intermediate-frequency alleles and two major haplotypes. Tag SNP rs13129471 was tested in 1,261 African ancestry breast cancer patients and 825 controls, showing significant association with breast cancer risk (P=0.003; homozygous G/G OR=1.50, 95% CI 1.15-1.95). The association was most pronounced in Nigerian women (P=0.000017, OR=2.38 for homozygotes).
About UGT2B4
Enables glucuronosyltransferase activity. Involved in estrogen metabolic process and xenobiotic metabolic process. Predicted to be located in endoplasmic reticulum membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all UGT2B4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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