{{Rsnum
|rsid=2235371
|Gene=IRF6
|Chromosome=1
|position=209790735
|Orientation=plus
|GMAF=0.1377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=IRF6
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 93.7 | 6.3 | 0.0
| HCB | 37.8 | 42.2 | 20.0
| JPT | 34.8 | 49.1 | 16.1
| YRI | 98.6 | 1.4 | 0.0
| ASW | 96.5 | 3.5 | 0.0
| CHB | 37.8 | 42.2 | 20.0
| CHD | 34.3 | 47.2 | 18.5
| GIH | 84.8 | 13.1 | 2.0
| LWK | 99.1 | 0.9 | 0.0
| MEX | 70.2 | 26.3 | 3.5
| MKK | 0.0 | 0.0 | 0.0
| TSI | 99.0 | 1.0 | 0.0
| HapMapRevision=28
}}
{{PMID Auto
|PMID=19536891
|Title=The association between interferon regulatory factor 6 (IRF6) and nonsyndromic cleft lip with or without cleft palate in a Honduran population
}}

{{omim
|desc=OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6
|id=608864
|rsnum=2235371
}}

{{omim
|desc=INTERFERON REGULATORY FACTOR 6; IRF6
|id=607199
|rsnum=2235371
}}

{{PMID Auto
|PMID=19734457
|Title=Association between IRF6 SNPs and oral clefts in West China
|OA=1
}}

{{ClinVar
|rsid=2235371
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=209964080
|CHROM=1
|GMAF=0.1374
|dbSNPBuildID=98
|SSR=0
|SAO=1
|VP=0x050368000a0115051f110100
|GENEINFO=IRF6:3664
|GENE_NAME=IRF6
|GENE_ID=3664
|WGT=1
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000001.10:g.209964080C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=607199.0013; 607199.0013; 607199.0013; 607199.0013
|CLNSIG=1
|CLNCUI=C0175697; C0175697; C0265259; C0265259
|CLNDBN=Van der Woude syndrome; Popliteal pterygium syndrome
|Disease=Van der Woude syndrome; Popliteal pterygium syndrome
|CLNACC=SCV000023750.1; SCV000023750.1; SCV000044918.1; SCV000044918.1
|Tags=PM;PMC;S3D;SLO;NSM;REF;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.8623; 0.1377
|COMMON=1
}}

{{PMID|17318851|OA=1
}} Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis.

{{PMID|17438386|OA=1
}} Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.

{{PMID|18278815|OA=1
}} Genetic variants in IRF6 and the risk of facial clefts: single-marker and haplotype-based analyses in a population-based case-control study of facial clefts in Norway.

{{PMID|18836445|OA=1
}} Disruption of an AP-2alpha binding site in an IRF6 enhancer is associated with cleft lip.

{{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|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|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|21834040}} Contribution of variants in and near the IRF6 gene to the risk of nonsyndromic cleft lip with or without cleft palate in a Malay population.

{{GET Evidence
|gene=IRF6
|aa_change=Val274Ile
|aa_change_short=V274I
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2235371
|overall_frequency_n=120
|overall_frequency_d=10758
|overall_frequency=0.0111545
|n_genomes=5
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|pph2_score=0.54
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-4
|autoscore=4
|n_web_uneval=10
}}

{{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=23940636
|Title=TGFA and IRF6 Contribute to the Risk of Nonsyndromic Cleft Lip with or without Cleft Palate in Northeast China
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}