{{Rsnum
|rsid=1800407
|Gene=OCA2
|Chromosome=15
|position=27985172
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.03489
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=OCA2
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.9 | 13.3 | 85.8
| HCB | 0.0 | 2.2 | 97.8
| JPT | 0.0 | 0.9 | 99.1
| YRI | 0.0 | 0.0 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 0.0 | 2.2 | 97.8
| CHD | 0.0 | 0.9 | 99.1
| GIH | 0.0 | 2.0 | 98.0
| LWK | 0.0 | 1.8 | 98.2
| MEX | 0.0 | 6.9 | 93.1
| MKK | 0.0 | 0.0 | 0.0
| TSI | 2.0 | 15.7 | 82.4
| HapMapRevision=28
}}
[[rs1800407]] is located in exon 13 of the [[OCA2]] gene at amino acid position 419, and it is therefore also known as the R419Q variant. The (A) allele encodes the amino acid glutamine (instead of arginine), and it is associated with increased odds of having green/hazel [[eye color]] in some Caucasian populations. One copy of of [[rs1800407]](A) is sufficient for this effect. [PMID 12163334, PMID 15889046; [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203200&a=203200_AllelicVariant0012 OMIM 203200.0012]]

{{PMID|18093281}} According to tree scanning analysis, the proportion of eye colour variation explained by this nucleotide position is merely 4%. Thus, additional variation present in the [[OCA2]] gene and perhaps some other pigment related genes must be taken into account in order to explain the high phenotypic variation in iris colour.

{{PMID|18252222|OA=1
}} Among [[rs12913832]](A;A) individuals, the penetrance for green/hazel eyes was 50%, 21%, and 6%, respectively, for [[rs1800407]](A;A), (A;G), and (G;G) genotypes, respectively. R419Q is also a significant risk factor (odd ratio 1.27, p=0.0006) for cutaneous malignant [[melanoma]].

{{ neighbor
| rsid = 28934272
| distance = 71
}}

{{PMID Auto
|PMID=19208107
|Title=Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.
}}
{{PMID Auto
|PMID=19320733
|Title=Pigmentation-related genes and their implication in malignant melanoma susceptibility.
}}

{{omim
|desc=OCA2 GENE
|id=611409
|rsnum=1800407
}}

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

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

{{ClinVar
|rsid=1800407
|Reversed=1
|FwdREF=G
|FwdALT=A
|REF=C
|ALT=T
|RSPOS=28230318
|CHROM=15
|GMAF=0.0348
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x050168000000150517110100
|GENEINFO=OCA2:4948
|GENE_NAME=OCA2
|GENE_ID=4948
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.28230318C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=611409.0012
|CLNSIG=5
|CLNCUI=C1856895
|CLNDBN=Skin/hair/eye pigmentation, variation in, 1
|Disease=Skin/hair/eye pigmentation
|CLNACC=RCV000001014.1
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;PH3;LSD;OM
|CAF=0.9651; 0.03489
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C1856895:227220
|COMMON=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=19384953
|Title=Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.
|OA=1
}}

{{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=20585627
|Title=Web-based, participant-driven studies yield novel genetic associations for common traits.
|OA=1
}}

{{GET Evidence
|gene=OCA2
|aa_change=Arg419Gln
|aa_change_short=R419Q
|impact=benign
|qualified_impact=Low clinical importance, Likely benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800407
|overall_frequency_n=608
|overall_frequency_d=10758
|overall_frequency=0.0565161
|n_genomes=3
|n_genomes_annotated=0
|n_haplomes=3
|n_articles=1
|n_articles_annotated=1
|qualityscore_in_silico=1
|qualitycomment_in_silico=Y
|qualityscore_case_control=4
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|gene_in_genetests=Y
|in_omim=Y
|pph2_score=0.998
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=5
|webscore=Y
|n_web_uneval=9
|variant_evidence=0
|clinical_importance=1
|summary_short=This variant is associated with eye color, as is OCA2 R305W. Individuals with this variant are reported to be more likely to have green/hazel eyes as opposed to blue/gray eyes. Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).
}}

{{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
}}

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