rs4150211

This is a intron variant variant in the HBEGF gene.

▶

GWAS Catalog Trait Associations (1)

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

neuroimaging measurement

Bhatt RR et al. “The Genetic Architecture of the Human Corpus Callosum and its Subregions.” Nature Communications 16(1):9708 (2025)

Allele A

OR 0.05

p 8.0e-18

N 46,685

Large GWAS

European

About HBEGF

Enables growth factor activity; heparin binding activity; and transmembrane receptor protein tyrosine kinase activator activity. Involved in several processes, including epidermal growth factor receptor signaling pathway; positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction; and positive regulation of wound healing. Located in cell surface. Is active in extracellular space. Implicated in glomerulosclerosis and perinatal necrotizing enterocolitis. [provided by Alliance of Genome Resources, Jul 2025]

View all HBEGF 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…