rs11248866

This is a downstream gene variant variant in the UBE2I gene.

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GWAS Catalog Trait Associations (1)

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

systolic blood pressure

Giri A et al. “Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.” Nature Genetics 51(1):51-62 (2019)
Allele A
OR 0.17
p 5.0e-10
N 459,777
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Common variants in the UBC9 gene encoding the SUMO‐conjugating enzyme are associated with breast tumor grade
AssociationN=1,021Thomas Dünnebier et al.(2009)· International Journal of Cancer

This case-control study of 1,021 German breast cancer cases from the GENICA collection investigated associations between UBC9 gene variants and tumor grade. Three SNPs in UBC9 (rs7187167, rs11248866, rs8052688) were significantly associated with histological grade, with rs7187167 showing the strongest association under a recessive model. Patients homozygous for the rare allele of rs7187167 were significantly less likely to develop high-grade tumors (G3 vs. G1: OR 0.26, 95% CI 0.11-0.62), and this association remained independent in multivariate analysis.

Traits studied:Breast cancer progressionBreast cancer tumor gradeHistological grade (G1, G2, G3)
PubMedDOIMetascience Observatory

About UBE2I

The modification of proteins with ubiquitin is an important cellular mechanism for targeting abnormal or short-lived proteins for degradation. Ubiquitination involves at least three classes of enzymes: ubiquitin-activating enzymes, or E1s, ubiquitin-conjugating enzymes, or E2s, and ubiquitin-protein ligases, or E3s. This gene encodes a member of the E2 ubiquitin-conjugating enzyme family. Four alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

View all UBE2I variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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