Rs642961

risk of cleft lip

23andMe considers rs861020 a proxy

Associated with European Facial Appearance
 * rs7590268
 * rs16903544
 * rs987525
 * rs9574565
 * rs227731
 * rs642961
 * rs1258763

Genome scan, fine-mapping, and candidate gene analysis of non-syndromic cleft lip with or without cleft palate reveals phenotype-specific differences in linkage and association results.

Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population.

Current concepts in genetics of nonsyndromic clefts.

Studies of palatine rugae and interferon regulatory factor 6 variations in a group of families with sporadic hypodontia.

IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.

Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate.

Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population.

IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population.

Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population.

Association of common variants, not rare mutations, in IRF6 with nonsyndromic clefts in a Honduran population.

MCS9.7 enhancer activity is highly, but not completely, associated with expression of Irf6 and p63.

Cleft Lip and Cleft Palate