rs861020

This is a regulatory region variant variant in the IRF6 gene.

▶

GWAS Catalog Trait Associations (1)

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

orofacial cleft

Ludwig KU et al. “Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.” Nature Genetics 44(9):968-71 (2012)

Allele A

OR 1.44

p 3.0e-12

N 2,383

Large GWAS

multi-ancestry

About IRF6

This gene encodes a member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2011]

View all IRF6 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…