rs1469412
This is a regulatory region variant variant in the ELL gene.
▶Research that mentions this SNP (1)
▶Genetic variants of genes in the NER pathway associated with risk of breast cancer: A large‐scale analysis of 14 published GWAS datasets in the DRIVE studyMeta-analysisN=53,107Jie Ge et al.(2019)· International Journal of Cancer
A large-scale meta-analysis of 14 GWAS datasets from the DRIVE Study (53,107 European-descent subjects) identified four novel genetic variants in nucleotide excision repair (NER) pathway genes associated with breast cancer risk: BIVM-ERCC5 rs1323697 (OR=1.06, 95% CI=1.03-1.10), GTF2H4 rs1264308 (OR=0.93, 95% CI=0.89-0.97), COPS2 rs141308737 (OR=1.06, 95% CI=1.03-1.09), and ELL rs1469412 (OR=0.93, 95% CI=0.90-0.96). eQTL analysis revealed that BIVM-ERCC5 rs1323697 C and ELL rs1469412 C alleles were associated with increased mRNA expression of their respective genes, suggesting functional roles in breast cancer etiology.
About ELL
Enables phosphatase binding activity. Involved in positive regulation of DNA-templated transcription and snRNA transcription. Located in cytosol; euchromatin; and nuclear body. Part of transcription elongation factor complex. [provided by Alliance of Genome Resources, Apr 2025]
View all ELL 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…