rs4778241

This is a intron variant variant in the OCA2 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

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ClinVar annotation

no_classification_for_the_single_variant
2 publications
View on ClinVar →
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Research that mentions this SNP (4)

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A global view of the OCA2-HERC2 region and pigmentation
AssociationN=3,432Michael P. Donnelly et al.(2012)· Human Genetics

This global population study of 3,432 individuals from 73 populations examined 21 SNPs in the OCA2-HERC2 region associated with eye and skin pigmentation. Blue-eye associated haplotypes (BEH1, BEH2, BEH3) were found at high frequencies in Europe, with BEH2 showing the strongest signal of selection. The East Asian-specific missense SNP rs1800414 (His615Arg) was associated with lighter skin pigmentation and showed strong evidence of positive selection in East Asian populations.

Traits studied:Eye pigmentation (blue eyes)Eye pigmentation (green/hazel eyes)Skin pigmentation (light skin)
PubMedDOIMetascience Observatory
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Model-based prediction of human hair color using DNA variants
AssociationN=385Wojciech Branicki et al.(2011)· Human Genetics

This study demonstrates that human hair color can be predicted from DNA variants with high accuracy using a multinomial logistic regression model. A subset of 13 genetic markers from 11 genes (MC1R, HERC2, IRF4, TYR, EXOC2, SLC45A2, TYRP1, OCA2, SLC24A4, KITLG, ASIP) predicted hair color categories in Polish Europeans with AUC values of 0.93 for red hair, 0.87 for black hair, 0.82 for brown hair, and 0.81 for blond hair. MC1R variants showed the strongest association with red hair (OR=12.64 for R variants, P=2.5×10⁻¹⁷), while rs12913832 in HERC2 was significantly associated with darker hair colors (OR=3.33 for black, P=4.3×10⁻⁶).

Traits studied:Auburn hairBlack hairBlond hairBlond-red hairBrown hairDark-blond hairHair colorRed hair
PubMedDOIMetascience Observatory
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Genotyping of five single nucleotide polymorphisms in the OCA2 and HERC2 genes associated with blue‐brown eye color in the Japanese population
AssociationN=523Reiko Iida et al.(2009)· Cell Biochemistry and Function

This study examined genotype and haplotype frequencies of five SNPs in the OCA2 and HERC2 genes (rs7495174, rs4778241, rs4778138, rs12913832, rs1129038) that are associated with blue-brown eye color variation in a Japanese population of 523 brown-eyed individuals. Significant differences in genotype and haplotype distributions were found compared to African and European populations, with the A-GAG haplotype being most frequent in Japanese (0.568) versus low in Europeans (0.167), and rs12913832 and rs1129038 being mono-allelic in the Japanese population.

Traits studied:Blue-brown eye colorBrown eye colorEye color
PubMedDOIMetascience Observatory
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Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression.
AssociationN=200Eiberg H et al.(2008)· Human genetics

This study identified a founder mutation in HERC2 intron 86 (rs12913832) that is perfectly associated with blue eye color. Through linkage analysis of a large Danish family and association studies in 155 blue-eyed and 45 brown-eyed individuals, the researchers mapped the blue eye color locus to a 166 Kbp region and demonstrated that rs12913832 (G allele) and rs1129038 (A allele) are perfectly associated with blue eyes (P = 6.12e-46). Functional studies showed this regulatory element significantly reduces OCA2 promoter activity through differential binding of transcription factors.

Traits studied:Blue eye colorBrown eye colorEye color variationHair color
PubMedDOIMetascience Observatory

About OCA2

This gene encodes the human homolog of the mouse p (pink-eyed dilution) gene. The encoded protein is believed to be an integral membrane protein involved in small molecule transport, specifically tyrosine, which is a precursor to melanin synthesis. It is involved in mammalian pigmentation, where it may control skin color variation and act as a determinant of brown or blue eye color. Mutations in this gene result in type 2 oculocutaneous albinism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

View all OCA2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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