rs12807014

This is a intron variant variant in the FNBP4 gene.

▶

GWAS Catalog Trait Associations (1)

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

ferritin measurement

Bell S et al. “A genome-wide meta-analysis yields 46 new loci associating with biomarkers of iron homeostasis.” Communications Biology 4(1):156 (2021)

Allele C

OR 0.03

p 3.0e-13

N 246,139

Meta-analysisLarge GWAS

European

About FNBP4

This gene encodes a protein containing two tryptophan-rich WW domains that binds the proline-rich formin homology 1 domains of formin family proteins, suggesting a role in the regulation of cytoskeletal dynamics during cell division and migration. It also binds intersectin family proteins suggesting a role in the maintenance of membrane curvature at sites of nascent vesicle formation. Naturally occurring mutations in this gene are associated with Waardenburg anophthalmia syndrome. [provided by RefSeq, Apr 2017]

View all FNBP4 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…