Publications:

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Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.

Communications Biology

E Jorgenson, H Choquet, J Yin, TJ Hoffmann, Y Banda, MN Kvale, N Risch, C Schaefer, MM Asgari

Publication Date: 2020-12-14

Variant appearance in text: rs1667394

PubMed Link: 33318654

Variant Present in the following documents:

• Main text

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Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports

HS AlSafar, M Al-Ali, GD Elbait, MH Al-Maini, D Ruta, B Peramo, A Henschel, GK Tay

Publication Date: 2019-10-11

Variant appearance in text: rs1667394

PubMed Link: 31604968

Variant Present in the following documents:

• 41598_2019_50876_MOESM1_ESM.xlsx

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Distinct genetic variation and heterogeneity of the Iranian population.

Plos Genetics

Z Mehrjoo, Z Fattahi, M Beheshtian, M Mohseni, H Poustchi, F Ardalani, K Jalalvand, S Arzhangi, Z Mohammadi, S Khoshbakht, F Najafi, P Nikuei, M Haddadi, E Zohrehvand, M Oladnabi, A Mohammadzadeh, MH Jafari, T Akhtarkhavari, ES Gooshki, A Haghdoost, R Najafipour, LM Niestroj, B Helwing, Y Gossmann, MR Toliat, R Malekzadeh, P Nürnberg, K Kahrizi, H Najmabadi, M Nothnagel

Publication Date: 2019-09

Variant appearance in text: rs1667394

PubMed Link: 31550250

Variant Present in the following documents:

• pgen.1008385.s029.xlsx

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A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia.

Nature Communications

K Adhikari, J Mendoza-Revilla, A Sohail, M Fuentes-Guajardo, J Lampert, JC Chacón-Duque, M Hurtado, V Villegas, V Granja, V Acuña-Alonzo, C Jaramillo, W Arias, RB Lozano, P Everardo, J Gómez-Valdés, H Villamil-Ramírez, CC Silva de Cerqueira, T Hunemeier, V Ramallo, L Schuler-Faccini, FM Salzano, R Gonzalez-José, MC Bortolini, S Canizales-Quinteros, C Gallo, G Poletti, G Bedoya, F Rothhammer, DJ Tobin, M Fumagalli, D Balding, A Ruiz-Linares

Publication Date: 2019-01-21

Variant appearance in text: rs1667394

PubMed Link: 30664655

Variant Present in the following documents:

• 41467_2018_8147_MOESM1_ESM.pdf

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

International Journal Of Molecular Sciences

S Del Bino, C Duval, F Bernerd

Publication Date: 2018-09-08

Variant appearance in text: rs1667394

PubMed Link: 30205563

Variant Present in the following documents:

• Main text

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Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

Journal Of Medical Genetics

I Galván-Femenía, M Obón-Santacana, D Piñeyro, M Guindo-Martinez, X Duran, A Carreras, R Pluvinet, J Velasco, L Ramos, S Aussó, JM Mercader, L Puig, M Perucho, D Torrents, V Moreno, L Sumoy, R de Cid

Publication Date: 2018-11

Variant appearance in text: rs1667394

PubMed Link: 30166351

Variant Present in the following documents:

• Main text

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Bayesian Network Construction and Genotype-Phenotype Inference Using GWAS Statistics.

Ieee/Acm Transactions On Computational Biology And Bioinformatics

L Zhang, Q Pan, Y Wang, X Wu, X Shi

Publication Date: 2019

Variant appearance in text: rs1667394

PubMed Link: 29990020

Variant Present in the following documents:

• Main text

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Identifying the favored mutation in a positive selective sweep.

Nature Methods

A Akbari, JJ Vitti, A Iranmehr, M Bakhtiari, PC Sabeti, S Mirarab, V Bafna

Publication Date: 2018-04

Variant appearance in text: rs1667394

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

AR Martin, M Lin, JM Granka, JW Myrick, X Liu, A Sockell, EG Atkinson, CJ Werely, M Möller, MS Sandhu, DM Kingsley, EG Hoal, X Liu, MJ Daly, MW Feldman, CR Gignoux, CD Bustamante, BM Henn

Publication Date: 2017-11-30

Variant appearance in text: rs1667394

PubMed Link: 29195075

Variant Present in the following documents:

• NIHMS921744-supplement-2.xlsx

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The Genetic Legacy of the Indian Ocean Slave Trade: Recent Admixture and Post-admixture Selection in the Makranis of Pakistan.

American Journal Of Human Genetics

R Laso-Jadart, C Harmant, H Quach, N Zidane, C Tyler-Smith, Q Mehdi, Q Ayub, L Quintana-Murci, E Patin

Publication Date: 2017-12-07

Variant appearance in text: rs1667394

PubMed Link: 29129317

Variant Present in the following documents:

• Main text
• mmc2.pdf

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Adaptation of human skin color in various populations.

Hereditas

L Deng, S Xu

Publication Date: 2018

Variant appearance in text: rs1667394

PubMed Link: 28701907

Variant Present in the following documents:

• Main text

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Global skin colour prediction from DNA.

Human Genetics

S Walsh, L Chaitanya, K Breslin, C Muralidharan, A Bronikowska, E Pospiech, J Koller, L Kovatsi, A Wollstein, W Branicki, F Liu, M Kayser

Publication Date: 2017-07

Variant appearance in text: rs1667394

PubMed Link: 28500464

Variant Present in the following documents:

• Main text

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Signatures of natural selection on genetic variants affecting complex human traits.

Applied & Translational Genomics

G Zhang, LJ Muglia, R Chakraborty, JM Akey, SM Williams

Publication Date: 2013-12-01

Variant appearance in text: rs1667394

PubMed Link: 27896059

Variant Present in the following documents:

• Main text

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Genetic markers of pigmentation are novel risk loci for uveal melanoma.

Scientific Reports

R Ferguson, M Vogelsang, E Ucisik-Akkaya, K Rai, R Pilarski, CN Martinez, J Rendleman, E Kazlow, K Nagdimov, I Osman, RJ Klein, FH Davidorf, CM Cebulla, MH Abdel-Rahman, T Kirchhoff

Publication Date: 2016-08-08

Variant appearance in text: rs1667394

PubMed Link: 27499155

Variant Present in the following documents:

• Main text

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Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics

JK Pickrell, T Berisa, JZ Liu, L Ségurel, JY Tung, DA Hinds

Publication Date: 2016-07

Variant appearance in text: rs1667394

PubMed Link: 27182965

Variant Present in the following documents:

• NIHMS780506-supplement-17.pdf

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EigenGWAS: finding loci under selection through genome-wide association studies of eigenvectors in structured populations.

Heredity

GB Chen, SH Lee, ZX Zhu, B Benyamin, MR Robinson

Publication Date: 2016-07

Variant appearance in text: rs1667394

PubMed Link: 27142779

Variant Present in the following documents:

• Main text

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Identification of Susceptibility Loci for Cutaneous Squamous Cell Carcinoma.

The Journal Of Investigative Dermatology

MM Asgari, W Wang, NM Ioannidis, J Itnyre, T Hoffmann, E Jorgenson, AS Whittemore

Publication Date: 2016-05

Variant appearance in text: rs1667394

PubMed Link: 26829030

Variant Present in the following documents:

• NIHMS756128-supplement-Supplemantary_Materials.pdf

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Germ line genome editing in clinics: the approaches, objectives and global society.

Briefings In Functional Genomics

T Ishii

Publication Date: 2017-01

Variant appearance in text: rs1667394

PubMed Link: 26615180

Variant Present in the following documents:

• Main text

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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

A Caliebe, M Harder, R Schuett, M Krawczak, A Nebel, N von Wurmb-Schwark

Publication Date: 2016-05

Variant appearance in text: rs1667394

PubMed Link: 26286644

Variant Present in the following documents:

• Main text
• ejhg2015167x1.doc

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Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications

AK Andiappan, R Melchiotti, TY Poh, M Nah, KJ Puan, E Vigano, D Haase, N Yusof, B San Luis, J Lum, D Kumar, S Foo, L Zhuang, A Vasudev, A Irwanto, B Lee, A Nardin, H Liu, F Zhang, J Connolly, J Liu, A Mortellaro, Y Wang, M Poidinger, A Larbi, F Zolezzi, O Rotzschke

Publication Date: 2015-08-10

Variant appearance in text: rs1667394

PubMed Link: 26259071

Variant Present in the following documents:

• ncomms8971-s1.pdf
• ncomms8971-s3.xlsx

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Biobanking across the phenome - at the center of chronic disease research.

Bmc Public Health

M Imboden, NM Probst-Hensch

Publication Date: 2013-11-25

Variant appearance in text: rs1667394

PubMed Link: 24274136

Variant Present in the following documents:

• 1471-2458-13-1094-S2.xlsx

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Melanoma risk loci as determinants of melanoma recurrence and survival.

Journal Of Translational Medicine

J Rendleman, S Shang, C Dominianni, JF Shields, P Scanlon, C Adaniel, A Desrichard, M Ma, R Shapiro, R Berman, A Pavlick, D Polsky, Y Shao, I Osman, T Kirchhoff

Publication Date: 2013-11-04

Variant appearance in text: rs1667394

PubMed Link: 24188633

Variant Present in the following documents:

• 1479-5876-11-279-S1.xlsx

View BVdb publication page

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

European Journal Of Human Genetics : Ejhg

S Ulivi, M Mezzavilla, P Gasparini

Publication Date: 2013-11

Variant appearance in text: rs1667394

PubMed Link: 23486544

Variant Present in the following documents:

• Main text

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Genome-wide association studies of quantitatively measured skin, hair, and eye pigmentation in four European populations.

Plos One

SI Candille, DM Absher, S Beleza, M Bauchet, B McEvoy, NA Garrison, JZ Li, RM Myers, GS Barsh, H Tang, MD Shriver

Publication Date: 2012

Variant appearance in text: rs1667394

PubMed Link: 23118974

Variant Present in the following documents:

• Main text
• pone.0048294.s005.pdf

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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

V Kastelic, K Drobnic

Publication Date: 2012-10

Variant appearance in text: rs1667394

PubMed Link: 23100201

Variant Present in the following documents:

• Main text
• CroatMedJ_53_s013.pdf
• CroatMedJ_53_s014.pdf
• CroatMedJ_53_s015.pdf

View BVdb publication page

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Integration of GWAS SNPs and tissue specific expression profiling reveal discrete eQTLs for human traits in blood and brain.

Neurobiology Of Disease

DG Hernandez, MA Nalls, M Moore, S Chong, A Dillman, D Trabzuni, JR Gibbs, M Ryten, S Arepalli, ME Weale, AB Zonderman, J Troncoso, R O'Brien, R Walker, C Smith, S Bandinelli, BJ Traynor, J Hardy, AB Singleton, MR Cookson

Publication Date: 2012-07

Variant appearance in text: rs1667394

PubMed Link: 22433082

Variant Present in the following documents:

• mmc1.xls

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Gene set analysis of GWAS data for human longevity highlights the relevance of the insulin/IGF-1 signaling and telomere maintenance pathways.

Age (Dordrecht, Netherlands)

J Deelen, HW Uh, R Monajemi, D van Heemst, PE Thijssen, S Böhringer, EB van den Akker, AJ de Craen, F Rivadeneira, AG Uitterlinden, RG Westendorp, JJ Goeman, PE Slagboom, JJ Houwing-Duistermaat, M Beekman

Publication Date: 2013-02

Variant appearance in text: rs1667394

PubMed Link: 22113349

Variant Present in the following documents:

• 11357_2011_9340_MOESM5_ESM.xls

View BVdb publication page

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

Human Genetics

MP Donnelly, P Paschou, E Grigorenko, D Gurwitz, C Barta, RB Lu, OV Zhukova, JJ Kim, M Siniscalco, M New, H Li, SL Kajuna, VG Manolopoulos, WC Speed, AJ Pakstis, JR Kidd, KK Kidd

Publication Date: 2012-05

Variant appearance in text: rs1667394

PubMed Link: 22065085

Variant Present in the following documents:

• Main text

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Evidence for hitchhiking of deleterious mutations within the human genome.

Plos Genetics

S Chun, JC Fay

Publication Date: 2011-08

Variant appearance in text: rs1667394

PubMed Link: 21901107

Variant Present in the following documents:

• pgen.1002240.s008.xls

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Efficient replication of over 180 genetic associations with self-reported medical data.

Plos One

JY Tung, CB Do, DA Hinds, AK Kiefer, JM Macpherson, AB Chowdry, U Francke, BT Naughton, JL Mountain, A Wojcicki, N Eriksson

Publication Date: 2011

Variant appearance in text: rs1667394

PubMed Link: 21858135

Variant Present in the following documents:

• pone.0023473.s003.docx
• pone.0023473.s009.docx

View BVdb publication page

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Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.

Plos Genetics

RS Fehrmann, RC Jansen, JH Veldink, HJ Westra, D Arends, MJ Bonder, J Fu, P Deelen, HJ Groen, A Smolonska, RK Weersma, RM Hofstra, WA Buurman, S Rensen, MG Wolfs, M Platteel, A Zhernakova, CC Elbers, EM Festen, G Trynka, MH Hofker, CG Saris, RA Ophoff, LH van den Berg, DA van Heel, C Wijmenga, GJ Te Meerman, L Franke

Publication Date: 2011-08

Variant appearance in text: rs1667394

PubMed Link: 21829388

Variant Present in the following documents:

• pgen.1002197.s012.xls
• pgen.1002197.s016.xls

View BVdb publication page

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Adaptations to climate-mediated selective pressures in humans.

Plos Genetics

AM Hancock, DB Witonsky, G Alkorta-Aranburu, CM Beall, A Gebremedhin, R Sukernik, G Utermann, JK Pritchard, G Coop, A Di Rienzo

Publication Date: 2011-04

Variant appearance in text: rs1667394

PubMed Link: 21533023

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

OA Panagiotou, E Evangelou, JP Ioannidis

Publication Date: 2010-10-15

Variant appearance in text: rs1667394

PubMed Link: 20876667

Variant Present in the following documents:

• Main text

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Genetic differences between five European populations.

Human Heredity

V Moskvina, M Smith, D Ivanov, D Blackwood, D StClair, C Hultman, D Toncheva, M Gill, A Corvin, C O'Dushlaine, DW Morris, NR Wray, P Sullivan, C Pato, MT Pato, P Sklar, S Purcell, P Holmans, MC O'Donovan, MJ Owen, G Kirov,

Publication Date: 2010

Variant appearance in text: rs1667394

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

N Eriksson, JM Macpherson, JY Tung, LS Hon, B Naughton, S Saxonov, L Avey, A Wojcicki, I Pe'er, J Mountain

Publication Date: 2010-06-24

Variant appearance in text: rs1667394

PubMed Link: 20585627

Variant Present in the following documents:

• Main text
• pgen.1000993.s001.xls
• pgen.1000993.s007.pdf

View BVdb publication page

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

Pigment Cell & Melanoma Research

MR Gerstenblith, J Shi, MT Landi

Publication Date: 2010-10

Variant appearance in text: rs1667394

PubMed Link: 20546537

Variant Present in the following documents:

• Main text
• NIHMS214020-supplement-Supp_Table_s1.doc

View BVdb publication page

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

Plos Genetics

F Liu, A Wollstein, PG Hysi, GA Ankra-Badu, TD Spector, D Park, G Zhu, M Larsson, DL Duffy, GW Montgomery, DA Mackey, S Walsh, O Lao, A Hofman, F Rivadeneira, JR Vingerling, AG Uitterlinden, NG Martin, CJ Hammond, M Kayser

Publication Date: 2010-05-06

Variant appearance in text: rs1667394

PubMed Link: 20463881

Variant Present in the following documents:

• pgen.1000934.s005.doc

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

Genome Medicine

D Udayakumar, H Tsao

Publication Date: 2009-10-27

Variant appearance in text: rs1667394

PubMed Link: 19863770

Variant Present in the following documents:

• Main text

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Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.

Nature Genetics

MS Silverberg, JH Cho, JD Rioux, DP McGovern, J Wu, V Annese, JP Achkar, P Goyette, R Scott, W Xu, MM Barmada, L Klei, MJ Daly, C Abraham, TM Bayless, F Bossa, AM Griffiths, AF Ippoliti, RG Lahaie, A Latiano, P Paré, DD Proctor, MD Regueiro, AH Steinhart, SR Targan, LP Schumm, EO Kistner, AT Lee, PK Gregersen, JI Rotter, SR Brant, KD Taylor, K Roeder, RH Duerr

Publication Date: 2009-02

Variant appearance in text: rs1667394

PubMed Link: 19122664

Variant Present in the following documents:

• NIHMS74184-supplement-1.pdf

View BVdb publication page

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

Plos Genetics

J Han, P Kraft, H Nan, Q Guo, C Chen, A Qureshi, SE Hankinson, FB Hu, DL Duffy, ZZ Zhao, NG Martin, GW Montgomery, NK Hayward, G Thomas, RN Hoover, S Chanock, DJ Hunter

Publication Date: 2008-05-16

Variant appearance in text: rs1667394

PubMed Link: 18483556

Variant Present in the following documents:

• Main text
• pgen.1000074.s005.xls

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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

RA Sturm, DL Duffy, ZZ Zhao, FP Leite, MS Stark, NK Hayward, NG Martin, GW Montgomery

Publication Date: 2008-02

Variant appearance in text: rs1667394

PubMed Link: 18252222

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

M Kayser, F Liu, AC Janssens, F Rivadeneira, O Lao, K van Duijn, M Vermeulen, P Arp, MM Jhamai, WF van Ijcken, JT den Dunnen, S Heath, D Zelenika, DD Despriet, CC Klaver, JR Vingerling, PT de Jong, A Hofman, YS Aulchenko, AG Uitterlinden, BA Oostra, CM van Duijn

Publication Date: 2008-02

Variant appearance in text: rs1667394

PubMed Link: 18252221

Variant Present in the following documents:

• Main text

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000261609.7	c.323-4749G>A	-	intron_variant	-	4/92
ENST00000564383.1	n.218-4749G>A	-	intron_variant,non_coding_transcript_variant	-	2/2
ENST00000564734.1	c.*193-4749G>A	-	intron_variant,NMD_transcript_variant	-	5/20
NM_004667.5	c.323-4749G>A	-	intron_variant	-	4/92