rs41292535
This is a intron variant variant in the EPS15 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.
cardioembolic stroke
Cárcel-Márquez J et al. “A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.” Frontiers in Cardiovascular Medicine 9:940696 (2022)
Allele A
OR 6.99
p 3.0e-12
N 362,661
Large GWAS
European
About EPS15
This gene encodes a protein that is part of the EGFR pathway. The protein is present at clatherin-coated pits and is involved in receptor-mediated endocytosis of EGF. Notably, this gene is rearranged with the HRX/ALL/MLL gene in acute myelogeneous leukemias. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, May 2009]
View all EPS15 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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