{{Rsnum
|rsid=642961
|Chromosome=1
|position=209815925
|Orientation=plus
|GMAF=0.1736
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 5.4 | 33.9 | 60.7
| HCB | 2.9 | 30.1 | 66.9
| JPT | 2.7 | 29.5 | 67.9
| YRI | 1.4 | 16.3 | 82.3
| ASW | 0.0 | 17.5 | 82.5
| CHB | 2.9 | 30.1 | 66.9
| CHD | 6.5 | 25.9 | 67.6
| GIH | 5.0 | 37.6 | 57.4
| LWK | 0.0 | 12.7 | 87.3
| MEX | 1.8 | 36.8 | 61.4
| MKK | 0.6 | 16.0 | 83.3
| TSI | 4.9 | 36.3 | 58.8
| HapMapRevision=28
}}{{PMID|18836445|OA=1
}} risk of [[cleft lip]]

[[23andMe]] considers [[rs861020]] a proxy

{{PMID Auto GWAS
|PMID=19270707
|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
|RiskAllele=A
|Pval=0.000002
|OR=NR
|ORtxt=NR
}}

Associated with European Facial [[Appearance]] {{doi|10.1371/journal.pgen.1002932}}
*[[rs7590268]]
*[[rs16903544]]
*[[rs987525]]
*[[rs9574565]]
*[[rs227731]]
*[[rs642961]] 
*[[rs1258763]]

{{omim
|desc=OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
|id=608864
|rsnum=642961
}}

{{omim
|desc=INTERFERON REGULATORY FACTOR 6; IRF6
|id=607199
|rsnum=642961
}}

{{PharmGKB
|RSID=rs642961
|Name_s=
|Gene_s=IRF6
|Feature=
|Evidence=PubMed ID:19270707; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS results: Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24. (Initial Sample Size: 224 cases, 383 controls; Replication Sample Size: 246 cases, 954 controls); (Region: 1q32.2; Reported Gene(s): IRF6; Risk Allele: rs642961-A); (p-value= 0.000002).This variant is associated with Nonsyndromic cleft lip with or without cleft palate.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA164739927
}}

{{PMID|19521098|OA=1
}} 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.

{{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|OA=1
}} 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|OA=1
}} 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.

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs642961
|overall_frequency_n=111
|overall_frequency_d=128
|overall_frequency=0.867188
|n_genomes=55
|n_genomes_annotated=0
|n_haplomes=96
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=22887868
|Title=IRF6 is a risk factor for nonsyndromic cleft lip in the Brazilian population
}}

[[Cleft Lip and Cleft Palate]]

{{PMID Auto
|PMID=23394314
|Title=Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate
}}

{{PMID Auto
|PMID=23166094
|Title=Three polymorphisms in IRF6 and 8q24 are associated with nonsyndromic cleft lip with or without cleft palate: evidence from 20 studies
}}

{{PMID Auto
|PMID=24339768
|Title=Detecting Genetic Association of Common Human Facial Morphological Variation Using High Density 3D Image Registration
|OA=1
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}