Variant ID: 15-28530182-C-A

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

This variant was identified in 42 publications




Publications:


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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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



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
View BVdb publication page



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
View BVdb publication page



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



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
View BVdb publication page



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



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
View BVdb publication page



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
View BVdb publication page



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



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



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
View BVdb publication page



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
View BVdb publication page



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
View BVdb publication page



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



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



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
View BVdb publication page



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
View BVdb publication page



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



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
View BVdb publication page



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



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
View BVdb publication page



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