SNP information rs1800407

Research and publications:

  12163334   P gene as an inherited biomarker of human eye color.

  15889046   Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.

  17236130   A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.

  18093281   Association of polymorphic sites in the OCA2 gene with eye colour using the tree scanning method.

  18252222   A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.

  19208107   Interactions between HERC2, OCA2 and MC1R may influence human pigmentation phenotype.

  19320733   Pigmentation-related genes and their implication in malignant melanoma susceptibility.

  19384953   Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians.

  19710684   Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.

  20042077   Genetic determinants of hair and eye colours in the Scottish and Danish populations.

  20158590   Predicting phenotype from genotype: normal pigmentation.

  20457063   Human eye colour and HERC2, OCA2 and MATP.

  20463881   Digital quantification of human eye color highlights genetic association of three new loci.

  20546537   Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis.

  20585627   Web-based, participant-driven studies yield novel genetic associations for common traits.

  21197618   Model-based prediction of human hair color using DNA variants.

  21674838   Genetic examination of the putative skull of Jan Kochanowski reveals its female sex.

  21926416   Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.

  22065085   A global view of the OCA2-HERC2 region and pigmentation.

  23948321   Genetic analyses of the human eye colours using a novel objective method for eye colour classification.

  24631691   The effect of gender on eye colour variation in European populations and an evaluation of the IrisPlex prediction model.

  24681889   The common occurrence of epistasis in the determination of human pigmentation and its impact on DNA-based pigmentation phenotype prediction.

  24809478   Implications of the admixture process in skin color molecular assessment.

  24880832   Collaborative EDNAP exercise on the IrisPlex system for DNA-based prediction of human eye colour.

  25741868   Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

  26547235   Crowdsourced direct-to-consumer genomic analysis of a family quartet.

  26567291   Novel Genetic Loci Associated With Retinal Microvascular Diameter.

  26848990   Biochip-Based Genotyping Assay for Detection of Polymorphisms in Pigmentation Genes Associated with Cutaneous Melanoma.

  26938746   Pigmentary Markers in Danes--Associations with Quantitative Skin Colour, Nevi Count, Familial Atypical Multiple-Mole, and Melanoma Syndrome.

  27221533   Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics.

  27424798   Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.

  27468418   Importance of nonsynonymous OCA2 variants in human eye color prediction.

  30306274   Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.

  32963319   The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.

  33692100   Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.

  33979322   Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images.

  34071952   Prediction of Eye Colour in Scandinavians Using the EyeColour 11 (EC11) SNP Set.

  35176104   Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.