{{Rsnum
|rsid=12203592
|Gene=IRF4
|Chromosome=6
|position=396321
|Orientation=plus
|GMAF=0.05372
|Assembly=GRCh37
|GenomeBuild=37.1
|dbSNPBuild=131
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
}}
{{ population diversity
| geno1=(C;C)
| geno2=(C;T)
| geno3=(T;T)
| CEU | 70.8 | 26.5 | 2.7
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 91.2 | 7.0 | 1.8
| CHB | 100.0 | 0.0 | 0.0
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 86.2 | 12.1 | 1.7
| MKK | 0.0 | 0.0 | 0.0
| TSI | 81.4 | 17.6 | 1.0
| HapMapRevision=28
}}

[http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.0040004 plos] rs12203592 showed the largest allele frequency difference between the Irish individuals and those individuals of Northern, Central European and Eastern European descent

{{PMID|18483556|OA=1
}} associated with hair color [[rs12896399]] [[rs12203592]]

[[rs12203592]] for [[freckling]] was previously associated with hair color, eye color, and tanning response to sunlight {{doi|10.1371/journal.pgen.1000993}}

{{GWAS Summary
|SNP=rs12203592
|PubMedID=18483556
|Condition=Black vs. red hair color
|Gene=IRF4
|Risk Allele=T
|pValue=9.00E-028
|OR=0.31
|95CI=0.25-0.36) decrease in hair color scor
|OA=1
}}

{{PMID Auto
|PMID=19396635
|Title=Relationship between interferon regulatory factor 4 genetic polymorphisms, measures of sun sensitivity and risk for non-Hodgkin lymphoma
|OA=1
}}

{{PMID Auto
|PMID=19897031
|Title=An Intronic Polymorphism of IRF4 Gene Influences Gene Transcription in vitro and Shows a Risk Association with Childhood Acute Lymphoblastic Leukemia in Males
}}

{{PharmGKB
|RSID=rs12203592
|Name_s=
|Gene_s=IRF4
|Feature=
|Evidence=PubMed ID:18483556; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation (Initial Sample Size: 2,287 women; Replication Sample Size: up to 8,465 individuals; Risk/trait Allele: rs12203592-T). This variant is associated with Black vs. red hair color.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356367
}}

{{PMID Auto
|PMID=20602913
|Title=IRF4 Variants Have Age-Specific Effects on Nevus Count and Predispose to Melanoma
|OA=1
}}
{{PMID Auto GWAS
|PMID=20585627
|Trait=Eye color
|Title=Web-based, participant-driven studies yield novel genetic associations for common traits
|RiskAllele=T
|Pval=2E-15
|OR=0.42
|ORtxt=[NR] unit decrease
|OA=1
}}

{{PharmGKB
|RSID=rs12203592
|Name_s=
|Gene_s=IRF4
|Feature=
|Evidence=PubMed ID:18483556; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation (Initial Sample Size: 2,287 women; Replication Sample Size: up to 8,465 individuals; Risk/trait Allele: rs12203592-T). This variant is associated with Black vs. blond hair color.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356366
}}

{{PMID Auto GWAS
|PMID=21685912
|Trait=None
|Title=Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
|RiskAllele=
|Pval=6E-15
|OR=1.4800
|ORtxt=[1.34-1.63]
|OA=1
}}

{{PMID Auto
|PMID=22512251
|Title=Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma
}}

{{PMID Auto
|PMID=19340012
|Title=Genome-wide association study of tanning phenotype in a population of European ancestry.
|OA=1
}}

{{PMID Auto
|PMID=19474294
|Title=Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
|OA=1
}}

{{PMID Auto
|PMID=20018015
|Title=Elastic-net regularization approaches for genome-wide association studies of rheumatoid arthritis.
|OA=1
}}

{{PMID Auto
|PMID=20463881
|Title=Digital quantification of human eye color highlights genetic association of three new loci.
|OA=1
}}

{{PMID Auto
|PMID=21270109
|Title=A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus.
|OA=1
}}

{{PMID Auto
|PMID=21962134
|Title=Polymorphisms in nevus-associated genes MTAP, PLA2G6, and IRF4 and the risk of invasive cutaneous melanoma.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12203592
|overall_frequency_n=11
|overall_frequency_d=128
|overall_frequency=0.0859375
|n_genomes=9
|n_genomes_annotated=0
|n_haplomes=10
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

[[Squamous Cell Carcinoma]]

{{PMID Auto
|PMID=23393597
|Title=Replication and Predictive Value of SNPs Associated with Melanoma and Pigmentation Traits in a Southern European Case-Control Study
|OA=1
}}

{{PMID Auto
|PMID=23537197
|Title=Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population
|OA=1
}}

{{PMID Auto
|PMID=23548203
|Title=Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans
}}

{{PMID Auto
|PMID=23771755
|Title=Improved eye- and skin-color prediction based on 8 SNPs.
|OA=1
}}

{{PMID Auto
|PMID=24906573
|Title=Association of interferon regulatory factor 4 gene polymorphisms rs12203592 and rs872071 with skin cancer and haematological malignancies susceptibility: a meta-analysis of 19 case-control studies
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}