| 1 | HERC2, OCA2, HECD
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| Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.
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| Kayser M, Liu F, Janssens AC, Rivadeneira F, Lao O, van Duijn K, Vermeulen M, Arp P, Jhamai MM, van Ijcken WF, den Dunnen JT, Heath S, Zelenika D, Despriet DD, Klaver CC, Vingerling JR, de Jong PT, Hofman A, Aulchenko YS, Uitterlinden AG, Oostra BA, van Duijn CM.
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| Am J Hum Genet 82(2):411-23. Epub 2008 Jan 25. 2008
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| 2 | HERC2, HECD
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| A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.
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| Sturm RA, Duffy DL, Zhao ZZ, Leite FP, Stark MS, Hayward NK, Martin NG, Montgomery GW.
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| Am J Hum Genet 82(2):424-31. Epub 2008 Jan 24. 2008
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| 3 | HECD, HERC2, OCA2, RABGGTA
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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.
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| Eiberg H, Troelsen J, Nielsen M, Mikkelsen A, Mengel-From J, Kjaer KW, Hansen L.
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| Hum Genet 123(2):177-87. Epub 2008 Jan 3. 2008
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| 4 | HECD, OCA2
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| A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.
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| Duffy DL, Montgomery GW, Chen W, Zhao ZZ, Le L, James MR, Hayward NK, Martin NG, Sturm RA.
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| Am J Hum Genet 80(2):241-52. Epub 2006 Dec 20. 2007
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| 5 | SLC24A4, KITLG, TYR, MC1R, OCA2, HERC2, HECD
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| Genetic determinants of hair, eye and skin pigmentation in Europeans.
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| Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Magnusson KP, Manolescu A, Karason A, Palsson A, Thorleifsson G, Jakobsdottir M, Steinberg S, P‡lsson S, Jonasson F, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK, Kiemeney LA, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K.
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| Nat Genet 39(12):1443-52. Epub 2007 Oct 21. 2007
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| 6 | HECD
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| Sequences associated with human iris pigmentation.
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| Frudakis T, Thomas M, Gaskin Z, Venkateswarlu K, Chandra KS, Ginjupalli S, Gunturi S, Natrajan S, Ponnuswamy VK, Ponnuswamy KN.
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| Genetics 165(4):2071-83. Review. 2003
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| 7 | HECD
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| Assignment of genes coding for brown eye colour (BEY2) and brown hair colour (HCL3) on chromosome 15q.
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| Eiberg H, et al.
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| Eur J Hum Genet 4 : 237-241. 1996
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