rs2274273
This is a downstream gene variant variant in the DLGAP5 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.
protein measurement
▶Research that mentions this SNP (1)
▶Genetic Variants in the Vicinity of LGALS‐3 Gene and LGALS‐3 mRNA Expression in Advanced Carotid Atherosclerosis: An Exploratory StudyAssociationN=785Ana Djordjevic et al.(2016)· Journal of Clinical Laboratory Analysis
This case-control study of 785 Serbian subjects (485 advanced carotid atherosclerosis patients, 300 controls) examined two genetic variants in the LGALS-3 gene (rs2274273 and rs17128183) for association with carotid atherosclerosis risk and LGALS-3 mRNA expression. No statistically significant associations were found between either variant and advanced carotid atherosclerosis or plaque phenotypes (all p > 0.0125 after Bonferroni correction). However, rare allele carriers of both variants showed significantly higher LGALS-3 mRNA expression in carotid plaque tissue (p = 0.039), suggesting these variants may affect gene expression despite lacking association with disease risk.
About DLGAP5
Predicted to enable microtubule binding activity. Predicted to be involved in several processes, including centrosome localization; kinetochore assembly; and mitotic spindle organization. Located in cytosol; nucleus; and spindle. [provided by Alliance of Genome Resources, Jul 2025]
View all DLGAP5 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…