{{Rsnum
|rsid=1800401
|Gene=OCA2
|Chromosome=15
|position=28014907
|Orientation=plus
|ReferenceAllele=C
|MissenseAllele=T
|GMAF=0.06336
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=OCA2
}}[[rs1800401]] is located in exon 7 of the [[OCA2]] gene at amino acid position 305. The (T) allele encodes the amino acid tryptophan (instead of arginine), and it is one of several SNPs associated with increased odds of having brown or black [[eye color]] in Caucasians. One copy of of [[rs1800401]](T) is sufficient for this effect. [PMID 12163334, PMID 15889046; [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=203200&a=203200_AllelicVariant0011 OMIM 203200.0011]]

{{omim
|id=611409
|rsnum=1800401
|variant=0011
}}

{{ClinVar
|rsid=1800401
|Reversed=1
|FwdREF=C
|FwdALT=T
|REF=G
|ALT=A
|RSPOS=28260053
|CHROM=15
|GMAF=0.0632
|dbSNPBuildID=89
|SSR=0
|SAO=1
|VP=0x05016800000015051e110100
|GENEINFO=OCA2:4948
|GENE_NAME=OCA2
|GENE_ID=4948
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000015.9:g.28260053G>A
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=611409.0011
|CLNSIG=5
|CLNCUI=C1856895
|CLNDBN=Skin/hair/eye pigmentation, variation in, 1
|Disease=Skin/hair/eye pigmentation
|CLNACC=RCV000001013.1
|Tags=RV;PM;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;OM
|CAF=0.9366; 0.06336
|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=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=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
}}

{{GET Evidence
|gene=OCA2
|aa_change=Arg305Trp
|aa_change_short=R305W
|impact=benign
|qualified_impact=Low clinical importance, Likely benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1800401
|overall_frequency_n=877
|overall_frequency_d=10758
|overall_frequency=0.0815207
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=6
|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
|in_omim=Y
|pph2_score=0.961
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=7
|autoscore=5
|webscore=N
|n_web_uneval=9
|variant_evidence=0
|clinical_importance=1
|summary_short=This variant is associated with eye color, as is OCA2 Arg419Gln. Individuals with this variant are more likely to have brown/black eyes (as opposed to blue/gray or green/hazel). Other variants in this gene are associated with oculocutaneous albinism (albinism which involves skin and eyes).
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}