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. Eiberg, H., Troelsen, J., Nielsen, M., Mikkelsen, A., Mengel-From, J., Kjaer, K. W., & Hansen, L. Human Genetics, 123(2):177–187, March, 2008.
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 [link]Paper  doi  bibtex   
@article{eiberg_blue_2008,
	title = {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},
	volume = {123},
	issn = {0340-6717, 1432-1203},
	url = {http://link.springer.com/10.1007/s00439-007-0460-x},
	doi = {10.1007/s00439-007-0460-x},
	language = {en},
	number = {2},
	urldate = {2024-01-21},
	journal = {Human Genetics},
	author = {Eiberg, Hans and Troelsen, Jesper and Nielsen, Mette and Mikkelsen, Annemette and Mengel-From, Jonas and Kjaer, Klaus W. and Hansen, Lars},
	month = mar,
	year = {2008},
	pages = {177--187},
}

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