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Genome wide association studies (GWAS) have identified\n                    <jats:italic>OCA2<\/jats:italic>\n                    coding and regulatory variants linked to common skin and eye color pigment variation, skin cancer susceptibility, and retinal pigment epithelium tissue metrics. Within a cohort of 106\n                    <jats:italic>OCA2<\/jats:italic>\n                    probands with two biallelic\n                    <jats:italic>OCA2<\/jats:italic>\n                    variants, a total of 74 distinct\n                    <jats:italic>OCA2<\/jats:italic>\n                    rare variants were identified (11 large structural, 17 small indel\/frameshift, 12 splice site, and 34 missense coding variants). Phase\u2010validated haplotypes, comprised of both\n                    <jats:italic>OCA2<\/jats:italic>\n                    common pigmentation trait GWAS alleles and rare variants, were obtained for 95\/106 probands. In total, 41 distinct multi\u2010allele\n                    <jats:italic>OCA2<\/jats:italic>\n                    haplotypes were identified with 27 haplotypes containing either rs1800404\u2010A and\/or rs12913832\u2010G alleles, each of which is known to reduce correct isoform splicing or gene expression by ~20%. These results find that common GWAS alleles with known\n                    <jats:italic>OCA2<\/jats:italic>\n                    functional impact are present on haplotypes with variants of unknown significance in\n                    <jats:italic>OCA2<\/jats:italic>\n                    probands and highlight the need for haplotype\u2010based analysis at the\n                    <jats:italic>OCA2<\/jats:italic>\n                    locus in addition to individual variant pathogenic assessment.\n                  <\/jats:p>","DOI":"10.1111\/pcmr.70085","type":"journal-article","created":{"date-parts":[[2026,3,30]],"date-time":"2026-03-30T02:26:50Z","timestamp":1774837610000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Haplotype\u2010Based Analysis of\n                    <i>OCA2<\/i>\n                    Variants in Oculocutaneous Albinism"],"prefix":"10.1111","volume":"39","author":[{"given":"Meredith F.","family":"Gillis","sequence":"first","affiliation":[{"name":"Human Biochemical Genetics Section National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"},{"name":"Department of Cell Biology and Physiology University of North Carolina at Chapel Hill  Chapel Hill North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Madeleine R.","family":"Ames","sequence":"additional","affiliation":[{"name":"Human Biochemical Genetics Section National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linnea","family":"Lundh","sequence":"additional","affiliation":[{"name":"Human Biochemical Genetics Section National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland 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Program","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adebowale","family":"Adeyemo","sequence":"additional","affiliation":[{"name":"Center for Research in Genomics and Global Heath National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles","family":"Rotimi","sequence":"additional","affiliation":[{"name":"Center for Research in Genomics and Global Heath National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Brooks","sequence":"additional","affiliation":[{"name":"Opthalmic Genetics and Visual Function Branch National Eye Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3771-6120","authenticated-orcid":false,"given":"Wadih","family":"Zein","sequence":"additional","affiliation":[{"name":"Opthalmic Clinical Genetics Section National Eye Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William","family":"Gahl","sequence":"additional","affiliation":[{"name":"Human Biochemical Genetics Section National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1076-0711","authenticated-orcid":false,"given":"William S.","family":"Oetting","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Pharmacology University of Minnesota  Minneapolis Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Adams","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1958-4689","authenticated-orcid":false,"given":"Stacie K.","family":"Loftus","sequence":"additional","affiliation":[{"name":"Human Biochemical Genetics Section National Human Genome Research Institute, National Institutes of Health  Bethesda Maryland 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