rs17797245
This variant is located in the THSD4 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.
cup-to-disc ratio measurement
Alipanahi B et al. “Large-scale machine-learning-based phenotyping significantly improves genomic discovery for optic nerve head morphology.” American Journal of Human Genetics 108(7):1217-1230 (2021)
Allele T
OR 0.03
p 5.0e-9
N 89,579
Large GWAS
European
About THSD4
Predicted to enable hydrolase activity. Predicted to be an extracellular matrix structural constituent. Involved in microfibril assembly. Located in microfibril. Implicated in thoracic aortic aneurysm. [provided by Alliance of Genome Resources, Jul 2025]
View all THSD4 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…