Publications:

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The evolution of human skin pigmentation: A changing medley of vitamins, genetic variability, and UV radiation during human expansion.

American Journal Of Biological Anthropology

Lucock, Mark D MD

Publication Date: 2023-02

Variant appearance in text: rs7495174

PubMed Link: 36790744

Variant Present in the following documents:

• Main text
• AJPA-180-252.pdf

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Genomic diversity and post-admixture adaptation in the Uyghurs.

National Science Review

Pan, Yuwen Y; Zhang, Chao C; Lu, Yan Y; Ning, Zhilin Z; Lu, Dongsheng D; Gao, Yang Y; Zhao, Xiaohan X; Yang, Yajun Y; Guan, Yaqun Y; Mamatyusupu, Dolikun D; Xu, Shuhua S

Publication Date: 2022-03

Variant appearance in text: rs7495174

PubMed Link: 35350227

Variant Present in the following documents:

• nwab124_supplemental_file.pdf

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A Deep-Learning Approach for Inference of Selective Sweeps from the Ancestral Recombination Graph.

Molecular Biology And Evolution

Hejase, Hussein A HA; Mo, Ziyi Z; Campagna, Leonardo L; Siepel, Adam A

Publication Date: 2022-01-07

Variant appearance in text: rs7495174

PubMed Link: 34888675

Variant Present in the following documents:

• Main text
• msab332.pdf

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A Deep-Learning Approach for Inference of Selective Sweeps from the Ancestral Recombination Graph.

Molecular Biology And Evolution

Hejase, Hussein A HA; Mo, Ziyi Z; Campagna, Leonardo L; Siepel, Adam A

Publication Date: 2021-11-22

Variant appearance in text: rs7495174

PubMed Link: 34888675

Variant Present in the following documents:

• Main text
• msab332.pdf

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What colour are your eyes? Teaching the genetics of eye colour & colour vision. Edridge Green Lecture RCOphth Annual Congress Glasgow May 2019.

Eye (London, England)

Mackey, David A DA

Publication Date: 2022-04

Variant appearance in text: rs7495174

PubMed Link: 34426658

Variant Present in the following documents:

• Main text
• 41433_2021_Article_1749.pdf

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Searching for improvements in predicting human eye colour from DNA.

International Journal Of Legal Medicine

Kukla-Bartoszek, Magdalena M; Teisseyre, Paweł P; Pośpiech, Ewelina E; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Płoski, Rafał R; Grzybowski, Tomasz T; Spólnicka, Magdalena M; Mielniczuk, Jan J; Branicki, Wojciech W

Publication Date: 2021-11

Variant appearance in text: rs7495174

PubMed Link: 34259936

Variant Present in the following documents:

• Main text
• 414_2021_Article_2645.pdf

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Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.

Plos One

Rayner, Jenna E JE; Duffy, David L DL; Smit, Darren J DJ; Jagirdar, Kasturee K; Lee, Katie J KJ; De'Ambrosis, Brian B; Smithers, B Mark BM; McMeniman, Erin K EK; McInerney-Leo, Aideen M AM; Schaider, Helmut H; Stark, Mitchell S MS; Soyer, H Peter HP; Sturm, Richard A RA

Publication Date: 2020

Variant appearance in text: OCA2: -22+132T>C; rs7495174

PubMed Link: 32966289

Variant Present in the following documents:

• Main text
• pone.0238529.pdf

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Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics

Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W

Publication Date: 2020-08-05

Variant appearance in text: rs7495174

PubMed Link: 32758128

Variant Present in the following documents:

• 12864_2020_6926_MOESM1_ESM.pdf

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Eye color prediction using single nucleotide polymorphisms in Saudi population.

Saudi Journal Of Biological Sciences

Alghamdi, Jahad J; Amoudi, Manal M; Kassab, Ahmad Ch AC; Al Mufarrej, Mansour M; Al Ghamdi, Saleh S

Publication Date: 2019-11

Variant appearance in text: rs7495174

PubMed Link: 31762634

Variant Present in the following documents:

• Main text
• main.pdf

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Prediction of skin color, tanning and freckling from DNA in Polish population: linear regression, random forest and neural network approaches.

Human Genetics

Zaorska, Katarzyna K; Zawierucha, Piotr P; Nowicki, Michał M

Publication Date: 2019-06

Variant appearance in text: rs7495174

PubMed Link: 30980179

Variant Present in the following documents:

• Main text
• 439_2019_Article_2012.pdf
• 439_2019_2012_MOESM1_ESM.xlsx, sheet 1

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A study in scarlet: MC1R as the main predictor of red hair and exemplar of the flip-flop effect.

Human Molecular Genetics

Zorina-Lichtenwalter, Katerina K; Lichtenwalter, Ryan N RN; Zaykin, Dima V DV; Parisien, Marc M; Gravel, Simon S; Bortsov, Andrey A; Diatchenko, Luda L

Publication Date: 2019-06-15

Variant appearance in text: rs7495174

PubMed Link: 30657907

Variant Present in the following documents:

• Main text

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Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.

International Journal Of Molecular Sciences

Del Bino, Sandra S; Duval, Christine C; Bernerd, Françoise F

Publication Date: 2018-09-08

Variant appearance in text: rs7495174

PubMed Link: 30205563

Variant Present in the following documents:

• Main text
• ijms-19-02668.pdf

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Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels.

Plos One

Nair-Shalliker, Visalini V; Egger, Sam S; Chrzanowska, Agata A; Mason, Rebecca R; Waite, Louise L; Le Couteur, David D; Seibel, Markus J MJ; Handelsman, David J DJ; Cumming, Robert R; Smith, David P DP; Armstrong, Bruce K BK

Publication Date: 2018

Variant appearance in text: rs7495174

PubMed Link: 29518100

Variant Present in the following documents:

• Main text

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Identifying the favored mutation in a positive selective sweep.

Nature Methods

Akbari, Ali A; Vitti, Joseph J JJ; Iranmehr, Arya A; Bakhtiari, Mehrdad M; Sabeti, Pardis C PC; Mirarab, Siavash S; Bafna, Vineet V

Publication Date: 2018-04

Variant appearance in text: rs7495174

PubMed Link: 29457793

Variant Present in the following documents:

• NIHMS937763-supplement-3.pdf

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An Unexpectedly Complex Architecture for Skin Pigmentation in Africans.

Cell

Martin, Alicia R AR; Lin, Meng M; Granka, Julie M JM; Myrick, Justin W JW; Liu, Xiaomin X; Sockell, Alexandra A; Atkinson, Elizabeth G EG; Werely, Cedric J CJ; Möller, Marlo M; Sandhu, Manjinder S MS; Kingsley, David M DM; Hoal, Eileen G EG; Liu, Xiao X; Daly, Mark J MJ; Feldman, Marcus W MW; Gignoux, Christopher R CR; Bustamante, Carlos D CD; Henn, Brenna M BM

Publication Date: 2017-11-30

Variant appearance in text: rs7495174

PubMed Link: 29195075

Variant Present in the following documents:

• Main text

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Predictors of 25-Hydroxyvitamin D Concentration Measured at Multiple Time Points in a Multiethnic Population.

American Journal Of Epidemiology

Knight, Julia A JA; Wong, Jody J; Cole, David E C DEC; Lee, Tim K TK; Parra, Esteban J EJ

Publication Date: 2017-11-15

Variant appearance in text: rs7495174

PubMed Link: 28549072

Variant Present in the following documents:

• Main text

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Global skin colour prediction from DNA.

Human Genetics

Walsh, Susan S; Chaitanya, Lakshmi L; Breslin, Krystal K; Muralidharan, Charanya C; Bronikowska, Agnieszka A; Pospiech, Ewelina E; Koller, Julia J; Kovatsi, Leda L; Wollstein, Andreas A; Branicki, Wojciech W; Liu, Fan F; Kayser, Manfred M

Publication Date: 2017-07

Variant appearance in text: rs7495174

PubMed Link: 28500464

Variant Present in the following documents:

• Main text
• 439_2017_Article_1808.pdf

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

Plos One

Johansen, Peter P; Andersen, Jeppe Dyrberg JD; Madsen, Linnea Nørgård LN; Ullum, Henrik H; Glud, Martin M; Børsting, Claus C; Gniadecki, Robert R; Morling, Niels N

Publication Date: 2016

Variant appearance in text: rs7495174

PubMed Link: 26938746

Variant Present in the following documents:

• Main text

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

Bmc Genomics

Corpas, Manuel M; Valdivia-Granda, Willy W; Torres, Nazareth N; Greshake, Bastian B; Coletta, Alain A; Knaus, Alexej A; Harrison, Andrew P AP; Cariaso, Mike M; Moran, Federico F; Nielsen, Fiona F; Swan, Daniel D; Weiss Solís, David Y DY; Krawitz, Peter P; Schacherer, Frank F; Schols, Peter P; Yang, Huangming H; Borry, Pascal P; Glusman, Gustavo G; Robinson, Peter N PN

Publication Date: 2015-11-07

Variant appearance in text: rs7495174

PubMed Link: 26547235

Variant Present in the following documents:

• Main text
• 12864_2015_Article_1973.pdf

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The more the merrier? How a few SNPs predict pigmentation phenotypes in the Northern German population.

European Journal Of Human Genetics : Ejhg

Caliebe, Amke A; Harder, Melanie M; Schuett, Rebecca R; Krawczak, Michael M; Nebel, Almut A; von Wurmb-Schwark, Nicole N

Publication Date: 2016-05

Variant appearance in text: rs7495174

PubMed Link: 26286644

Variant Present in the following documents:

• Main text

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Heritability and Genome-Wide Association Studies for Hair Color in a Dutch Twin Family Based Sample.

Genes

Lin, Bochao Danae BD; Mbarek, Hamdi H; Willemsen, Gonneke G; Dolan, Conor V CV; Fedko, Iryna O IO; Abdellaoui, Abdel A; de Geus, Eco J EJ; Boomsma, Dorret I DI; Hottenga, Jouke-Jan JJ

Publication Date: 2015-07-13

Variant appearance in text: rs7495174

PubMed Link: 26184321

Variant Present in the following documents:

• Main text
• genes-06-00559.pdf

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Cuba: exploring the history of admixture and the genetic basis of pigmentation using autosomal and uniparental markers.

Plos Genetics

Marcheco-Teruel, Beatriz B; Parra, Esteban J EJ; Fuentes-Smith, Evelyn E; Salas, Antonio A; Buttenschøn, Henriette N HN; Demontis, Ditte D; Torres-Español, María M; Marín-Padrón, Lilia C LC; Gómez-Cabezas, Enrique J EJ; Alvarez-Iglesias, Vanesa V; Mosquera-Miguel, Ana A; Martínez-Fuentes, Antonio A; Carracedo, Angel A; Børglum, Anders D AD; Mors, Ole O

Publication Date: 2014-07

Variant appearance in text: rs7495174

PubMed Link: 25058410

Variant Present in the following documents:

• Main text
• pgen.1004488.pdf

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Genetics of eye colours in different rural populations on the Silk Road.

European Journal Of Human Genetics : Ejhg

Ulivi, Sheila S; Mezzavilla, Massimo M; Gasparini, Paolo P

Publication Date: 2013-11

Variant appearance in text: rs7495174

PubMed Link: 23486544

Variant Present in the following documents:

• Main text

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Using genetic proxies for lifecourse sun exposure to assess the causal relationship of sun exposure with circulating vitamin d and prostate cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Bonilla, Carolina C; Gilbert, Rebecca R; Kemp, John P JP; Timpson, Nicholas J NJ; Evans, David M DM; Donovan, Jenny L JL; Hamdy, Freddie C FC; Neal, David E DE; Fraser, William D WD; Davey, Smith George SG; Lewis, Sarah J SJ; Lathrop, Mark M; Martin, Richard M RM

Publication Date: 2013-04

Variant appearance in text: rs7495174

PubMed Link: 23441100

Variant Present in the following documents:

• Main text

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A single-nucleotide polymorphism (SNP) multiplex system: the association of five SNPs with human eye and hair color in the Slovenian population and comparison using a Bayesian network and logistic regression model.

Croatian Medical Journal

Kastelic, Vanja V; Drobnic, Katja K

Publication Date: 2012-10

Variant appearance in text: rs7495174

PubMed Link: 23100201

Variant Present in the following documents:

• Main text
• CroatMedJ_53_0401.pdf

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Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D.

Plos One

Berry, Diane J DJ; Vimaleswaran, Karani S KS; Whittaker, John C JC; Hingorani, Aroon D AD; Hyppönen, Elina E

Publication Date: 2012

Variant appearance in text: rs7495174

PubMed Link: 22629401

Variant Present in the following documents:

• Main text

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

Human Genetics

Donnelly, Michael P MP; Paschou, Peristera P; Grigorenko, Elena E; Gurwitz, David D; Barta, Csaba C; Lu, Ru-Band RB; Zhukova, Olga V OV; Kim, Jong-Jin JJ; Siniscalco, Marcello M; New, Maria M; Li, Hui H; Kajuna, Sylvester L B SL; Manolopoulos, Vangelis G VG; Speed, William C WC; Pakstis, Andrew J AJ; Kidd, Judith R JR; Kidd, Kenneth K KK

Publication Date: 2012-05

Variant appearance in text: rs7495174

PubMed Link: 22065085

Variant Present in the following documents:

• Main text
• 439_2011_Article_1110.pdf

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GWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.

American Journal Of Human Genetics

Larsson, Mats M; Duffy, David L DL; Zhu, Gu G; Liu, Jimmy Z JZ; Macgregor, Stuart S; McRae, Allan F AF; Wright, Margaret J MJ; Sturm, Richard A RA; Mackey, David A DA; Montgomery, Grant W GW; Martin, Nicholas G NG; Medland, Sarah E SE

Publication Date: 2011-08-12

Variant appearance in text: rs7495174

PubMed Link: 21835309

Variant Present in the following documents:

• Main text

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A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus.

Cancer Research

Han, Jiali J; Qureshi, Abrar A AA; Nan, Hongmei H; Zhang, Jiangwen J; Song, Yiqing Y; Guo, Qun Q; Hunter, David J DJ

Publication Date: 2011-03-01

Variant appearance in text: rs7495174

PubMed Link: 21270109

Variant Present in the following documents:

• Main text

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

Human Genetics

Branicki, Wojciech W; Liu, Fan F; van Duijn, Kate K; Draus-Barini, Jolanta J; Pośpiech, Ewelina E; Walsh, Susan S; Kupiec, Tomasz T; Wojas-Pelc, Anna A; Kayser, Manfred M

Publication Date: 2011-04

Variant appearance in text: rs7495174

PubMed Link: 21197618

Variant Present in the following documents:

• Main text

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Genome-wide significant associations for variants with minor allele frequency of 5% or less--an overview: A HuGE review.

American Journal Of Epidemiology

Panagiotou, Orestis A OA; Evangelou, Evangelos E; Ioannidis, John P A JP

Publication Date: 2010-10-15

Variant appearance in text: rs7495174

PubMed Link: 20876667

Variant Present in the following documents:

• Main text

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Genetic differences between five European populations.

Human Heredity

Moskvina, Valentina V; Smith, Michael M; Ivanov, Dobril D; Blackwood, Douglas D; StClair, David D; Hultman, Christina C; Toncheva, Draga D; Gill, Michael M; Corvin, Aiden A; O'Dushlaine, Colm C; Morris, Derek W DW; Wray, Naomi R NR; Sullivan, Patrick P; Pato, Carlos C; Pato, Michele T MT; Sklar, Pamela P; Purcell, Shaun S; Holmans, Peter P; O'Donovan, Michael C MC; Owen, Michael J MJ; Kirov, George G; ,

Publication Date: 2010

Variant appearance in text: rs7495174

PubMed Link: 20616560

Variant Present in the following documents:

• Main text

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

Plos Genetics

Eriksson, Nicholas N; Macpherson, J Michael JM; Tung, Joyce Y JY; Hon, Lawrence S LS; Naughton, Brian B; Saxonov, Serge S; Avey, Linda L; Wojcicki, Anne A; Pe'er, Itsik I; Mountain, Joanna J

Publication Date: 2010-06-24

Variant appearance in text: rs7495174

PubMed Link: 20585627

Variant Present in the following documents:

• pgen.1000993.s007.pdf

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

Pigment Cell & Melanoma Research

Gerstenblith, Meg R MR; Shi, Jianxin J; Landi, Maria Teresa MT

Publication Date: 2010-10

Variant appearance in text: rs7495174

PubMed Link: 20546537

Variant Present in the following documents:

• Main text

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Association of the OCA2 polymorphism His615Arg with melanin content in east Asian populations: further evidence of convergent evolution of skin pigmentation.

Plos Genetics

Edwards, Melissa M; Bigham, Abigail A; Tan, Jinze J; Li, Shilin S; Gozdzik, Agnes A; Ross, Kendra K; Jin, Li L; Parra, Esteban J EJ

Publication Date: 2010-03-05

Variant appearance in text: rs7495174

PubMed Link: 20221248

Variant Present in the following documents:

• Main text

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

Bmc Genetics

Mengel-From, Jonas J; Wong, Terence H TH; Morling, Niels N; Rees, Jonathan L JL; Jackson, Ian J IJ

Publication Date: 2009-12-30

Variant appearance in text: rs7495174

PubMed Link: 20042077

Variant Present in the following documents:

• Main text

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Moderate- to low-risk variant alleles of cutaneous malignancies and nevi: lessons from genome-wide association studies.

Genome Medicine

Udayakumar, Durga D; Tsao, Hensin H

Publication Date: 2009-10-27

Variant appearance in text: rs7495174

PubMed Link: 19863770

Variant Present in the following documents:

• Main text

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Genome-wide association study of tanning phenotype in a population of European ancestry.

The Journal Of Investigative Dermatology

Nan, Hongmei H; Kraft, Peter P; Qureshi, Abrar A AA; Guo, Qun Q; Chen, Constance C; Hankinson, Susan E SE; Hu, Frank B FB; Thomas, Gilles G; Hoover, Robert N RN; Chanock, Stephen S; Hunter, David J DJ; Han, Jiali J

Publication Date: 2009-09

Variant appearance in text: rs7495174

PubMed Link: 19340012

Variant Present in the following documents:

• Main text

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A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation.

Plos Genetics

Han, Jiali J; Kraft, Peter P; Nan, Hongmei H; Guo, Qun Q; Chen, Constance C; Qureshi, Abrar A; Hankinson, Susan E SE; Hu, Frank B FB; Duffy, David L DL; Zhao, Zhen Zhen ZZ; Martin, Nicholas G NG; Montgomery, Grant W GW; Hayward, Nicholas K NK; Thomas, Gilles G; Hoover, Robert N RN; Chanock, Stephen S; Hunter, David J DJ

Publication Date: 2008-05-16

Variant appearance in text: rs7495174

PubMed Link: 18483556

Variant Present in the following documents:

• Main text

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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.

American Journal Of Human Genetics

Sturm, Richard A RA; Duffy, David L DL; Zhao, Zhen Zhen ZZ; Leite, Fabio P N FP; Stark, Mitchell S MS; Hayward, Nicholas K NK; Martin, Nicholas G NG; Montgomery, Grant W GW

Publication Date: 2008-02

Variant appearance in text: rs7495174

PubMed Link: 18252222

Variant Present in the following documents:

• Main text

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Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene.

American Journal Of Human Genetics

Kayser, Manfred M; Liu, Fan F; Janssens, A Cecile J W AC; Rivadeneira, Fernando F; Lao, Oscar O; van Duijn, Kate K; Vermeulen, Mark M; Arp, Pascal P; Jhamai, Mila M MM; van Ijcken, Wilfred F J WF; den Dunnen, Johan T JT; Heath, Simon S; Zelenika, Diana D; Despriet, Dominiek D G DD; Klaver, Caroline C W CC; Vingerling, Johannes R JR; de Jong, Paulus T V M PT; Hofman, Albert A; Aulchenko, Yurii S YS; Uitterlinden, Andre G AG; Oostra, Ben A BA; van Duijn, Cornelia M CM

Publication Date: 2008-02

Variant appearance in text: rs7495174

PubMed Link: 18252221

Variant Present in the following documents:

• Main text

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The diploid genome sequence of an individual human.

Plos Biology

Levy, Samuel S; Sutton, Granger G; Ng, Pauline C PC; Feuk, Lars L; Halpern, Aaron L AL; Walenz, Brian P BP; Axelrod, Nelson N; Huang, Jiaqi J; Kirkness, Ewen F EF; Denisov, Gennady G; Lin, Yuan Y; MacDonald, Jeffrey R JR; Pang, Andy Wing Chun AW; Shago, Mary M; Stockwell, Timothy B TB; Tsiamouri, Alexia A; Bafna, Vineet V; Bansal, Vikas V; Kravitz, Saul A SA; Busam, Dana A DA; Beeson, Karen Y KY; McIntosh, Tina C TC; Remington, Karin A KA; Abril, Josep F JF; Gill, John J; Borman, Jon J; Rogers, Yu-Hui YH; Frazier, Marvin E ME; Scherer, Stephen W SW; Strausberg, Robert L RL; Venter, J Craig JC

Publication Date: 2007-09-04

Variant appearance in text: rs7495174

PubMed Link: 17803354

Variant Present in the following documents:

• pbio.0050254.pdf

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

American Journal Of Human Genetics

Duffy, David L DL; Montgomery, Grant W GW; Chen, Wei W; Zhao, Zhen Zhen ZZ; Le, Lien L; James, Michael R MR; Hayward, Nicholas K NK; Martin, Nicholas G NG; Sturm, Richard A RA

Publication Date: 2007-02

Variant appearance in text: rs7495174

PubMed Link: 17236130

Variant Present in the following documents:

• Main text

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