{{Rsnum
|rsid=1800414
|Gene=OCA2
|Chromosome=15
|position=27951891
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.1552
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Summary=skin pigmentation
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=OCA2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 100.0 | 0.0 | 0.0
| HCB | 16.8 | 46.7 | 36.5
| JPT | 16.8 | 56.6 | 26.5
| YRI | 100.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 16.8 | 46.7 | 36.5
| CHD | 17.4 | 51.4 | 31.2
| GIH | 99.0 | 1.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}
Influences [[appearance]] [http://scienceblogs.com/gnxp/2009/03/genetics_of_human_pigmentation.php?utm_source=sbhomepage&utm_medium=link&utm_content=channellink gnxp]

{{doi|10.1371/journal.pgen.1000867}} associated with skin pigmentation in two samples of East Asian ancestry and it confirms previous evidence indicating that evolution towards light skin occurred, at least in part, independently in Europe and East Asia. The OCA2 gene has been under positive selection in Europe and East Asia, but different alleles have been selected in each region.

[http://blog.23andme.com/2010/03/23/snpwatch-researchers-identify-genetic-variation-that-contributes-to-skin-color-differences-in-east-asians/ 23andMe blog] each rs1800414(C) was associated with a 1.3 melanin unit reduction in skin pigmentation.  This SNP accounts for 9% of the variation in skin color seen in the study population.

{{PMID Auto
|PMID=22065085
|Title=A global view of the OCA2-HERC2 region and pigmentation
|OA=1
}}

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

{{PMID Auto
|PMID=18392143
|Title=Interactions between SNP alleles at multiple loci contribute to skin color differences between caucasoid and mongoloid subjects.
|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
}}

{{GET Evidence
|gene=OCA2
|aa_change=His615Arg
|aa_change_short=H615R
|impact=benign
|qualified_impact=Low clinical importance, Likely benign
|inheritance=other
|quality_scores=Array
|dbsnp_id=rs1800414
|overall_frequency_n=7
|overall_frequency_d=10758
|overall_frequency=0.000650678
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=11
|n_articles=2
|n_articles_annotated=2
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|gene_in_genetests=Y
|pph2_score=0.998
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=1
|autoscore=5
|n_web_uneval=10
|variant_evidence=0
|clinical_importance=1
|summary_short=Associated with lighter skin pigmentation in East Asian populations.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Affy GenomeWide 6}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}