rs4150197

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

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GWAS Catalog Trait Associations (3)

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

mean fractional anisotropy measurement

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele T
OR 0.08
p 8.0e-12
N 20,860
Major Consortium StudyLarge GWAS
European

neuroimaging measurement

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele T
OR 0.07
p 2.0e-10
N 20,859
Major Consortium StudyLarge GWAS
European

white matter integrity

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele T
OR 0.08
p 1.0e-11
N 20,860
Major Consortium StudyLarge 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.

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