|(A;A)||2||2.40x increased risk of cleft lip|
|(A;G)||1.5||1.68x increased risk of cleft lip|
|(G;G)||1||Normal risk of cleft lip|
|Trait||Nonsyndromic cleft lip with or without cleft palate|
|Title||Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24|
|Odds Ratio||NR NR|
[PMID 19780991] Lack of association between IRF6 polymorphisms (rs2235371 and rs642961) and non-syndromic cleft lip and/or palate in a Brazilian population.
[PMID 19881024] Current concepts in genetics of nonsyndromic clefts.
[PMID 20032603] Studies of palatine rugae and interferon regulatory factor 6 variations in a group of families with sporadic hypodontia.
[PMID 20121942] IRF6 gene variants in Central European patients with non-syndromic cleft lip with or without cleft palate.
[PMID 20196142] Family-based study shows heterogeneity of a susceptibility locus on chromosome 8q24 for nonsyndromic cleft lip and palate.
[PMID 20544801] Association between genetic variants of reported candidate genes or regions and risk of cleft lip with or without cleft palate in the polish population.
[PMID 20799332] IRF6 polymorphisms are associated with nonsyndromic orofacial clefts in a Chinese Han population.
[PMID 21683068] 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.
[PMID 21792966] Association of common variants, not rare mutations, in IRF6 with nonsyndromic clefts in a Honduran population.
[PMID 22113860] MCS9.7 enhancer activity is highly, but not completely, associated with expression of Irf6 and p63.
|qualified_impact||Insufficiently evaluated pathogenic|
[PMID 22887868] IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population
[PMID 23394314] Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate
[PMID 23166094] Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: evidence from 20 studies
[PMID 24339768] Detecting Genetic Association of Common Human Facial Morphological Variation Using High Density 3D Image Registration
[PMID 25896061] IRF6 Is a Marker of Severity in Nonsyndromic Cleft Lip/Palate
[PMID 26198054] Genetic risk factors for nonsyndromic cleft lip with or without cleft palate in a Brazilian population with high African ancestry
[PMID 26454948] [Relationship between genetic polymorphisms of IRF6 rs642961 and nonsysdromic cleft lip with or without cleft palate]
[PMID 28422192] Polymorphisms at 1q32, 8q24, and 17q22 loci are associated with nonsyndromic cleft lip with or without cleft palate risk in the Slovak population.