{{Rsnum
|rsid=12913832
|Gene=HERC2
|Chromosome=15
|position=28120472
|Orientation=plus
|GMAF=0.2911
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=HERC2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 3.5 | 34.5 | 61.9
| HCB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
| ASW | 71.9 | 24.6 | 3.5
| CHB | 100.0 | 0.0 | 0.0
| CHD | 99.1 | 0.9 | 0.0
| GIH | 83.2 | 16.8 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 69.0 | 20.7 | 10.3
| MKK | 99.4 | 0.6 | 0.0
| TSI | 32.4 | 52.9 | 14.7
| HapMapRevision=28
}}
[[rs12913832]] is a SNP near the [[OCA2]] gene that may be functionally linked to blue or brown [[eye color]], due to a lowering of promoter activity of the [[OCA2]] gene. Blue [[eye color]] is associated with the [[rs12913832]](G;G) genotype.[PMID 18172690, PMID 18252222]

For green versus blue [[eye color]]  [[rs12913832]] in OCA2/HERC2 has a score of 51.5 and an estimated allelic OR of 8.43 . The SNP rs1667394 in this same region has an estimated OR of  (4.85–10.06). {{doi|10.1371/journal.pgen.1000993}}

[[rs12913832]] is also part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, that is found in 97% of all Caucasians with blue eyes. In this haplotype, variations in [[rs1129038]] and [[rs12913832]] are relatively common in Caucasians though rare among other racial groups.{{PMID|18172690}}

{{PMID|18650849}} rs12913832-T (brown eye) homozygotes compared to rs12913832-C (blue eye). correlations with skin, eye, and hair color variation.

The "h-1" haplotype found in homozygous state in 97% of individuals with blue [[eye color]] is composed as follows {{PMID|18172690}}:

[[rs4778241]](C)<br>
[[rs1129038]](A)<br>
[[rs12593929]](A)<br>
[[rs12913832]](G)<br>
[[rs7183877]](C)<br>
[[rs3935591]](G)<br>
[[rs7170852]](A)<br>
[[rs2238289]](T)<br>
[[rs3940272]](C)<br>
[[rs8028689]](T)<br>
[[rs2240203]](A)<br>
[[rs11631797]](G)<br>
[[rs916977]](G)<br>

[http://scienceblogs.com/gnxp/2009/02/what_does_eye_color_have_to_do.php blog] coverage

{{ neighbor
| rsid = 7183877
| distance = 115
}}

{{GWAS Summary
|SNP=rs12913832
|PubMedID=18483556
|Condition=Black vs. red hair color
|Gene=HERC2
|Risk Allele=A
|pValue=1.00E-077
|OR=0.44
|95CI=0.40-0.48) decrease in hair color scor
|OA=1
}}
{{PMID Auto
|PMID=19278018
|Title=Brief communication: Blue eyes in lemurs and humans: Same phenotype, different genetic mechanism
}}
{{PMID Auto
|PMID=19208107
|Title=Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
}}

{{omim
|desc=SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1
|id=227220
|rsnum=12913832
}}

{{omim
|id=605837
|desc=HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2
|rsnum=12913832
}}

{{omim
|desc=OCA2 GENE
|id=611409
|rsnum=12913832
}}

{{PharmGKB
|RSID=rs12913832
|Name_s=
|Gene_s=HERC2
|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: rs12913832-A). This variant is associated with Black vs. red hair color.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356369
}}

{{PMID Auto GWAS
|PMID=20463881
|Trait=Eye color traits
|Title=Digital quantification of human eye color highlights genetic association of three new loci
|RiskAllele=
|Pval=0
|OR=None
|ORtxt=None
|OA=1
}}
{{PMID Auto GWAS
|PMID=20585627
|Trait=Eye color
|Title=Web-based, participant-driven studies yield novel genetic associations for common traits
|RiskAllele=A
|Pval=3E-52
|OR=8.43
|ORtxt=[NR]
|OA=1
}}

{{PharmGKB
|RSID=rs12913832
|Name_s=
|Gene_s=HERC2
|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: rs12913832-A). This variant is associated with Black vs. blond hair color.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356368
}}
{{PMID Auto
|PMID=20457063
|Title=Human eye colour and HERC2, OCA2 and MATP
}}

{{omim
|id=605837
|rsnum=12913832
|variant=0003
}}

{{PMID Auto
|PMID=22615734
|Title=The Classical Pink-Eyed Dilution Mutation Affects Angiogenic Responsiveness
|OA=1
}}

{{PMID Auto
|PMID=22234890
|Title=HERC2 rs12913832 modulates human pigmentation by attenuating chromatin-loop formation between a long-range enhancer and the OCA2 promoter.
|OA=1
}}

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

{{PMID Auto
|PMID=19472299
|Title=Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue-brown eye color in the Japanese population.
}}

{{PMID Auto
|PMID=19619260
|Title=Genetics of human iris colour and patterns.
}}

{{PMID Auto
|PMID=19668368
|Title=Ancestry analysis in the 11-M Madrid bomb attack investigation.
|OA=1
}}

{{PMID Auto
|PMID=19711812
|Title=[Genetic analysis of the putative remains of general Wladyslaw Sikorski].
}}

{{PMID Auto
|PMID=20018053
|Title=A genome-wide association scan for rheumatoid arthritis data by Hotelling's T2 tests.
|OA=1
}}

{{PMID Auto
|PMID=20221248
|Title=Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.
|OA=1
}}

{{PMID Auto
|PMID=20569440
|Title=Alterations in LMTK2, MSMB and HNF1B gene expression are associated with the development of prostate cancer.
|OA=1
}}

{{PMID Auto
|PMID=20629734
|Title=Genetic analysis of three important genes in pigmentation and melanoma susceptibility: CDKN2A, MC1R and HERC2/OCA2.
}}

{{PMID Auto
|PMID=21253569
|Title=Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations?
|OA=1
}}

{{PMID Auto
|PMID=21926416
|Title=Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.
|OA=1
}}

{{PMID Auto
|PMID=22101828
|Title=Technical note: quantitative measures of iris color using high resolution photographs.
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs12913832
|overall_frequency_n=37
|overall_frequency_d=128
|overall_frequency=0.289062
|n_genomes=24
|n_genomes_annotated=0
|n_haplomes=35
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23100201
|Title=A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model
|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=22709892
|Title=Further development of forensic eye color predictive tests.
}}

{{PMID Auto
|PMID=23543094
|Title=Testing for associations between loci and environmental gradients using latent factor mixed models.
|OA=1
}}

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

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}