rs61753651

This is a variant in the ESAM gene that changes a arginine to an tryptophan.

▶

GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

endothelial cell-selective adhesion molecule measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)

Allele A

OR —

β 1.880

p 1.0e-28

N 3,301

Large GWAS

European

protein measurement

Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)

Allele A

OR 1.84

p 1.0e-22

N 2,549

Large GWAS

European

▶

ClinVar annotation

Likely benign

View on ClinVar →

About ESAM

Enables cell-cell adhesion mediator activity. Involved in several processes, including bicellular tight junction assembly; cell-cell adhesion; and regulation of actin filament polymerization. Located in cell-cell junction and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

View all ESAM 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

Loading comments…