rs139247810

This is a regulatory region variant variant in the WBP1L gene.

▶

GWAS Catalog Trait Associations (1)

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

erythrocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)

Allele G

OR 0.11

p 2.0e-9

N 408,112

Large GWAS

European

About WBP1L

Predicted to enable ubiquitin protein ligase binding activity. Predicted to be involved in CXCL12-activated CXCR4 signaling pathway. Predicted to act upstream of or within hemopoiesis and positive regulation of protein ubiquitination. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]

View all WBP1L 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…