{{Rsnum
|rsid=1129038
|Gene=HERC2
|Chromosome=15
|position=28111713
|Orientation=minus
|GMAF=0.2929
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=HERC2
}}[[rs1129038]] is part of a haplotype spanning 166kB on chromosome 15, defined by 13 SNPs listed below, 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 ethnic groups.{{PMID|18172690}}

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>

{{omim
|desc=SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1; SHEP1
|id=227220
|rsnum=1129038
}}

{{omim
|desc=HECT DOMAIN AND RCC1-LIKE DOMAIN 2; HERC2
|id=605837
|rsnum=1129038
}}

{{PMID Auto
|PMID=20457063
|Title=Human eye colour and HERC2, OCA2 and MATP
}}

{{PMID Auto GWAS
|PMID=22561518
|Trait=None
|Title=Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
|RiskAllele=C
|Pval=4E-8
|OR=1.2200
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=18252222
|Title=A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
|OA=1
}}

{{PMID Auto
|PMID=18853455
|Title=Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson disease.
|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=20042077
|Title=Genetic determinants of hair and eye colours in the Scottish and Danish populations.
|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=21926416
|Title=Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.
|OA=1
}}

{{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=22709892
|Title=Further development of forensic eye color predictive tests.
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}