rs6990097
This is a coding sequence variant variant in the TNKS gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
docosahexaenoic acid to total fatty acids percentage
▶Research that mentions this SNP (1)
▶Telomere length, telomere‐related genes, and breast cancer risk: The breast cancer health disparities studyAssociationN=8,123Andrew J. Pellatt et al.(2013)· Genes, Chromosomes and Cancer
This case-control study of 3,754 breast cancer cases and 4,369 controls from admixed US and Mexican women examined telomere length (TL) and nine telomere-related genes. Longer TL was associated with increased breast cancer risk (OR 1.87, 95% CI 1.38-2.55), with strongest association among women with ≥70% Indigenous American ancestry (OR 3.11, 95% CI 1.74-5.67). Multiple SNPs showed associations with breast cancer risk, including TEP1 rs938886 (OR 0.82), TERT rs4246742 (OR 0.85), TERT rs2242652 (OR 1.51), TERF2 rs3785074 (OR 1.13), and TNKS rs6990300 (OR 0.89). Several SNPs showed differential associations by hormone receptor status and genetic ancestry.
About TNKS
Enables histone binding activity; pentosyltransferase activity; and zinc ion binding activity. Involved in several processes, including positive regulation of canonical Wnt signaling pathway; post-translational protein modification; and regulation of chromosome organization. Acts upstream of or within peptidyl-serine phosphorylation and peptidyl-threonine phosphorylation. Located in several cellular components, including chromosome, telomeric region; mitotic spindle pole; and nucleus. [provided by Alliance of Genome Resources, Jul 2025]
View all TNKS 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…