{{Rsnum
|rsid=4778241
|Gene=OCA2
|Chromosome=15
|position=28093567
|Orientation=plus
|GMAF=0.4752
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=OCA2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 1.8 | 28.3 | 69.9
| HCB | 59.6 | 35.3 | 5.1
| JPT | 68.1 | 24.8 | 7.1
| YRI | 32.7 | 48.3 | 19.0
| ASW | 21.1 | 50.9 | 28.1
| CHB | 59.6 | 35.3 | 5.1
| CHD | 64.2 | 31.2 | 4.6
| GIH | 28.7 | 50.5 | 20.8
| LWK | 51.8 | 36.4 | 11.8
| MEX | 13.8 | 51.7 | 34.5
| MKK | 30.8 | 50.0 | 19.2
| TSI | 19.6 | 42.2 | 38.2
| HapMapRevision=28
}}[[rs4778241]] 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=4778241
}}

{{omim
|id=611409
|desc=OCA2 GENE
|rsnum=4778241
}}

{{omim
|id=611409
|rsnum=4778241
|variant=0013
}}

{{PMID|17236130|OA=1
}} A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

{{PMID|18252221|OA=1
}} Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

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

{{PMID|18483556|OA=1
}} A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

{{PMID|18683857}} Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population.

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

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