Variant ID: 15-28530182-C-A

NM_004667.5(HERC2):c.323-4749G>T

This variant was identified in 24 publications




Publications:


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
PMID: 30205563
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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
PMID: 30166351
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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
PMID: 29990020
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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
PMID: 29129317
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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
PMID: 28701907
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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
PMID: 28500464
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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: N/A
PMID: 27896059
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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
PMID: 27499155
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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
PMID: 27142779
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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: N/A
PMID: 26615180
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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
PMID: 26286644
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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
PMID: 23486544
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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
PMID: 23118974
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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
PMID: 23100201
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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
PMID: 22065085
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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
PMID: 21533023
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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
PMID: 20876667
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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
PMID: 20616560
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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
PMID: 20585627
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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
PMID: 20546537
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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
PMID: 19863770
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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
PMID: 18483556
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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
PMID: 18252222
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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: N/A
PMID: 18252221
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Alternative transcript annotations:

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