Variant ID: 15-28356859-C-T

NM_004667.5(HERC2):c.*50G>A

This variant was identified in 60 publications




Publications:


Skin pigmentation polymorphisms associated with increased risk of melanoma in a case-control sample from southern Brazil.

Bmc Cancer
LB Reis, RM Bakos, FSL Vianna, GS Macedo, VC Jacovas, AM Ribeiro-Dos-Santos, S Santos, L Bakos, P Ashton-Prolla
Publication Date: 2020-11-09

Variant appearance in text: rs1129038
PubMed Link: 33167923
Variant Present in the following documents:
  • Main text
View BVdb publication page



Iris Colour and the Risk of Developing Uveal Melanoma.

International Journal Of Molecular Sciences
LE Houtzagers, APA Wierenga, AAM Ruys, GPM Luyten, MJ Jager
Publication Date: 2020-09-28

Variant appearance in text: rs1129038
PubMed Link: 32998469
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility.

Nature Genetics
MT Landi, DT Bishop, S MacGregor, MJ Machiela, AJ Stratigos, P Ghiorzo, M Brossard, D Calista, J Choi, MC Fargnoli, T Zhang, M Rodolfo, AJ Trower, C Menin, J Martinez, A Hadjisavvas, L Song, I Stefanaki, R Scolyer, R Yang, AM Goldstein, M Potrony, KP Kypreou, L Pastorino, P Queirolo, C Pellegrini, L Cattaneo, M Zawistowski, P Gimenez-Xavier, A Rodriguez, L Elefanti, S Manoukian, L Rivoltini, BH Smith, MA Loizidou, L Del Regno, D Massi, M Mandala, K Khosrotehrani, LA Akslen, CI Amos, PA Andresen, MF Avril, E Azizi, HP Soyer, V Bataille, B Dalmasso, LM Bowdler, KP Burdon, WV Chen, V Codd, JE Craig, T Dębniak, M Falchi, S Fang, E Friedman, S Simi, P Galan, Z Garcia-Casado, EM Gillanders, S Gordon, A Green, NA Gruis, J Hansson, M Harland, J Harris, P Helsing, A Henders, M Hočevar, V Höiom, D Hunter, C Ingvar, R Kumar, J Lang, GM Lathrop, JE Lee, X Li, J Lubiński, RM Mackie, M Malt, J Malvehy, K McAloney, H Mohamdi, A Molven, EK Moses, RE Neale, S Novaković, DR Nyholt, H Olsson, N Orr, LG Fritsche, JA Puig-Butille, AA Qureshi, GL Radford-Smith, J Randerson-Moor, C Requena, C Rowe, NJ Samani, M Sanna, D Schadendorf, HJ Schulze, LA Simms, M Smithers, F Song, AJ Swerdlow, N van der Stoep, NA Kukutsch, A Visconti, L Wallace, SV Ward, L Wheeler, RA Sturm, A Hutchinson, K Jones, M Malasky, A Vogt, W Zhou, KA Pooley, DE Elder, J Han, B Hicks, NK Hayward, PA Kanetsky, C Brummett, GW Montgomery, CM Olsen, C Hayward, AM Dunning, NG Martin, E Evangelou, GJ Mann, G Long, PDP Pharoah, DF Easton, JH Barrett, AE Cust, G Abecasis, DL Duffy, DC Whiteman, H Gogas, A De Nicolo, MA Tucker, JA Newton-Bishop, , , , , , , , , , K Peris, SJ Chanock, F Demenais, KM Brown, S Puig, E Nagore, J Shi, MM Iles, MH Law
Publication Date: 2020-05

Variant appearance in text: rs1129038
PubMed Link: 32341527
Variant Present in the following documents:
  • Main text
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: rs1129038
PubMed Link: 31550250
Variant Present in the following documents:
  • pgen.1008385.s029.xlsx
View BVdb publication page



Meta-analysis of GWA studies provides new insights on the genetic architecture of skin pigmentation in recently admixed populations.

Bmc Genetics
F Lona-Durazo, N Hernandez-Pacheco, S Fan, T Zhang, J Choi, MA Kovacs, SK Loftus, P Le, M Edwards, CA Fortes-Lima, C Eng, S Huntsman, D Hu, EJ Gómez-Cabezas, LC Marín-Padrón, J Grauholm, O Mors, EG Burchard, HL Norton, WJ Pavan, KM Brown, S Tishkoff, M Pino-Yanes, S Beleza, B Marcheco-Teruel, EJ Parra
Publication Date: 2019-07-17

Variant appearance in text: rs1129038
PubMed Link: 31315583
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genes for Good: Engaging the Public in Genetics Research via Social Media.

American Journal Of Human Genetics
K Brieger, GJM Zajac, A Pandit, JR Foerster, KW Li, AC Annis, EM Schmidt, CP Clark, K McMorrow, W Zhou, J Yang, AM Kwong, AP Boughton, J Wu, C Scheller, T Parikh, A de la Vega, DM Brazel, M Frieser, G Rea-Sandin, LG Fritsche, SI Vrieze, GR Abecasis
Publication Date: 2019-07-03

Variant appearance in text: rs1129038
PubMed Link: 31204010
Variant Present in the following documents:
  • mmc2.xlsx
View BVdb publication page



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

Human Molecular Genetics
K Zorina-Lichtenwalter, RN Lichtenwalter, DV Zaykin, M Parisien, S Gravel, A Bortsov, L Diatchenko
Publication Date: 2019-06-15

Variant appearance in text: rs1129038
PubMed Link: 30657907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci.

Human Genetics
RL Shah, JA Guggenheim,
Publication Date: 2018-12

Variant appearance in text: rs1129038
PubMed Link: 30306274
Variant Present in the following documents:
  • Main text
View BVdb publication page



Advanced choroidal melanoma with a desirable aesthetic outcome after enucleation: A case report.

Oncology Letters
C Terzidou, A Trivli, G Dalianis, D Apessou, DA Spandidos, GN Goulielmos
Publication Date: 2018-07

Variant appearance in text: rs1129038
PubMed Link: 29928440
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of rosacea symptom severity by genome-wide association study and expression analysis highlights immuno-inflammatory and skin pigmentation genes.

Human Molecular Genetics
JL Aponte, MN Chiano, LM Yerges-Armstrong, DA Hinds, C Tian, A Gupta, C Guo, DJ Fraser, JM Freudenberg, DK Rajpal, MG Ehm, DM Waterworth
Publication Date: 2018-08-01

Variant appearance in text: rs1129038
PubMed Link: 29771307
Variant Present in the following documents:
  • Main text
  • ddy184_supplmaterials_clean_v3.docx
  • ddy184.pdf
View BVdb publication page



Inherited Genetic Variants Associated with Melanoma BRAF/NRAS Subtypes.

The Journal Of Investigative Dermatology
NE Thomas, SN Edmiston, I Orlow, PA Kanetsky, L Luo, DC Gibbs, EA Parrish, H Hao, KJ Busam, BK Armstrong, A Kricker, AE Cust, H Anton-Culver, SB Gruber, RP Gallagher, R Zanetti, S Rosso, L Sacchetto, T Dwyer, DW Ollila, CB Begg, M Berwick, K Conway,
Publication Date: 2018-11

Variant appearance in text: rs1129038
PubMed Link: 29753029
Variant Present in the following documents:
  • Main text
  • NIHMS958185-supplement-Supplementary_Tables.pdf
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: rs1129038
PubMed Link: 29457793
Variant Present in the following documents:
  • NIHMS937763-supplement-3.pdf
View BVdb publication page



Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.

International Journal Of Ophthalmology
M Singh, SC Tyagi
Publication Date: 2018

Variant appearance in text: rs1129038
PubMed Link: 29376001
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrative genetic analysis suggests that skin color modifies the genetic architecture of melanoma.

Plos One
I Hulur, AD Skol, ER Gamazon, NJ Cox, K Onel
Publication Date: 2017

Variant appearance in text: rs1129038
PubMed Link: 28973033
Variant Present in the following documents:
  • Main text
View BVdb publication page



A GWAS in uveal melanoma identifies risk polymorphisms in the CLPTM1L locus.

Npj Genomic Medicine
L Mobuchon, A Battistella, C Bardel, G Scelo, A Renoud, A Houy, N Cassoux, M Milder, G Cancel-Tassin, O Cussenot, O Delattre, C Besse, A Boland, JF Deleuze, DG Cox, MH Stern
Publication Date: 2017

Variant appearance in text: rs1129038
PubMed Link: 28781888
Variant Present in the following documents:
  • 41525_2017_8_MOESM1_ESM.docx
View BVdb publication page



Functional melanoma-risk variant IRF4 rs12203592 associated with Breslow thickness: a pooled international study of primary melanomas.

The British Journal Of Dermatology
DC Gibbs, SV Ward, I Orlow, G Cadby, PA Kanetsky, L Luo, KJ Busam, A Kricker, BK Armstrong, AE Cust, H Anton-Culver, RP Gallagher, R Zanetti, S Rosso, L Sacchetto, DW Ollila, CB Begg, M Berwick, NE Thomas,
Publication Date: 2017-11

Variant appearance in text: rs1129038
PubMed Link: 28667740
Variant Present in the following documents:
  • Main text
  • NIHMS889945-supplement-Supp_TableS1.docx
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: rs1129038
PubMed Link: 28500464
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants at the OCA2/HERC2 locus affect time to first cutaneous squamous cell carcinoma in solid organ transplant recipients collected using two different study designs.

The British Journal Of Dermatology
L Wei, DC Allain, MN Bernhardt, JL Gillespie, SB Peters, OH Iwenofu, HH Nelson, ST Arron, AE Toland
Publication Date: 2017-10

Variant appearance in text: rs1129038
PubMed Link: 28456133
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel quantitative pigmentation phenotyping enhances genetic association, epistasis, and prediction of human eye colour.

Scientific Reports
A Wollstein, S Walsh, F Liu, U Chakravarthy, M Rahu, JH Seland, G Soubrane, L Tomazzoli, F Topouzis, JR Vingerling, J Vioque, S Böhringer, AE Fletcher, M Kayser
Publication Date: 2017-02-27

Variant appearance in text: rs1129038
PubMed Link: 28240252
Variant Present in the following documents:
  • Main text
  • srep43359-s1.doc
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: rs1129038
PubMed Link: 27896059
Variant Present in the following documents:
  • Main text
View BVdb publication page



Chad Genetic Diversity Reveals an African History Marked by Multiple Holocene Eurasian Migrations.

American Journal Of Human Genetics
M Haber, M Mezzavilla, A Bergström, J Prado-Martinez, P Hallast, R Saif-Ali, M Al-Habori, G Dedoussis, E Zeggini, J Blue-Smith, RS Wells, Y Xue, PA Zalloua, C Tyler-Smith
Publication Date: 2016-12-01

Variant appearance in text: rs1129038
PubMed Link: 27889059
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
View BVdb publication page



Psoriasis risk SNPs and their association with HIV-1 control.

Human Immunology
J Nititham, R Gupta, X Zeng, W Hartogensis, DF Nixon, SG Deeks, FM Hecht, W Liao
Publication Date: 2017-02

Variant appearance in text: rs1129038
PubMed Link: 27810495
Variant Present in the following documents:
  • NIHMS827944-supplement.docx
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: rs1129038
PubMed Link: 27499155
Variant Present in the following documents:
  • Main text
  • srep31191-s1.doc
View BVdb publication page



Importance of nonsynonymous OCA2 variants in human eye color prediction.

Molecular Genetics & Genomic Medicine
JD Andersen, C Pietroni, P Johansen, MM Andersen, V Pereira, C Børsting, N Morling
Publication Date: 2016-07

Variant appearance in text: rs1129038
PubMed Link: 27468418
Variant Present in the following documents:
  • Main text
View BVdb publication page



Early farmers from across Europe directly descended from Neolithic Aegeans.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Z Hofmanová, S Kreutzer, G Hellenthal, C Sell, Y Diekmann, D Díez-Del-Molino, L van Dorp, S López, A Kousathanas, V Link, K Kirsanow, LM Cassidy, R Martiniano, M Strobel, A Scheu, K Kotsakis, P Halstead, S Triantaphyllou, N Kyparissi-Apostolika, D Urem-Kotsou, C Ziota, F Adaktylou, S Gopalan, DM Bobo, L Winkelbach, J Blöcher, M Unterländer, C Leuenberger, Ç Çilingiroğlu, B Horejs, F Gerritsen, SJ Shennan, DG Bradley, M Currat, KR Veeramah, D Wegmann, MG Thomas, C Papageorgopoulou, J Burger
Publication Date: 2016-06-21

Variant appearance in text: rs1129038
PubMed Link: 27274049
Variant Present in the following documents:
  • pnas.1523951113.sapp.pdf
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: rs1129038
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-17.pdf
View BVdb publication page



Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci.

Frontiers In Genetics
C Shen, J Gao, Y Sheng, J Dou, F Zhou, X Zheng, R Ko, X Tang, C Zhu, X Yin, L Sun, Y Cui, X Zhang
Publication Date: 2016

Variant appearance in text: rs1129038
PubMed Link: 26870082
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: rs1129038
PubMed Link: 26829030
Variant Present in the following documents:
  • NIHMS756128-supplement-Supplemantary_Materials.pdf
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: rs1129038
PubMed Link: 26286644
Variant Present in the following documents:
  • Main text
  • ejhg2015167x1.doc
View BVdb publication page



Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.

Nature Genetics
MH Law, DT Bishop, JE Lee, M Brossard, NG Martin, EK Moses, F Song, JH Barrett, R Kumar, DF Easton, PDP Pharoah, AJ Swerdlow, KP Kypreou, JC Taylor, M Harland, J Randerson-Moor, LA Akslen, PA Andresen, MF Avril, E Azizi, GB Scarrà, KM Brown, T Dębniak, DL Duffy, DE Elder, S Fang, E Friedman, P Galan, P Ghiorzo, EM Gillanders, AM Goldstein, NA Gruis, J Hansson, P Helsing, M Hočevar, V Höiom, C Ingvar, PA Kanetsky, WV Chen, , , , , , , MT Landi, J Lang, GM Lathrop, J Lubiński, RM Mackie, GJ Mann, A Molven, GW Montgomery, S Novaković, H Olsson, S Puig, JA Puig-Butille, AA Qureshi, GL Radford-Smith, N van der Stoep, R van Doorn, DC Whiteman, JE Craig, D Schadendorf, LA Simms, KP Burdon, DR Nyholt, KA Pooley, N Orr, AJ Stratigos, AE Cust, SV Ward, NK Hayward, J Han, HJ Schulze, AM Dunning, JAN Bishop, F Demenais, CI Amos, S MacGregor, MM Iles
Publication Date: 2015-09

Variant appearance in text: rs1129038
PubMed Link: 26237428
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited genetic variants associated with occurrence of multiple primary melanoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
DC Gibbs, I Orlow, PA Kanetsky, L Luo, A Kricker, BK Armstrong, H Anton-Culver, SB Gruber, LD Marrett, RP Gallagher, R Zanetti, S Rosso, T Dwyer, A Sharma, E La Pilla, L From, KJ Busam, AE Cust, DW Ollila, CB Begg, M Berwick, NE Thomas,
Publication Date: 2015-06

Variant appearance in text: rs1129038
PubMed Link: 25837821
Variant Present in the following documents:
  • Main text
  • NIHMS676865-supplement-2.pdf
  • NIHMS676865-supplement-3.pdf
View BVdb publication page



Breast cancer risk and genetic ancestry: a case-control study in Uruguay.

Bmc Women'S Health
C Bonilla, B Bertoni, PC Hidalgo, N Artagaveytia, E Ackermann, I Barreto, P Cancela, M Cappetta, A Egaña, G Figueiro, S Heinzen, S Hooker, E Román, M Sans, RA Kittles
Publication Date: 2015

Variant appearance in text: rs1129038
PubMed Link: 25783644
Variant Present in the following documents:
  • 12905_2015_171_MOESM1_ESM.docx
View BVdb publication page



Addressing population-specific multiple testing burdens in genetic association studies.

Annals Of Human Genetics
RS Sobota, D Shriner, N Kodaman, R Goodloe, W Zheng, YT Gao, TL Edwards, CI Amos, SM Williams
Publication Date: 2015-03

Variant appearance in text: rs1129038
PubMed Link: 25644736
Variant Present in the following documents:
  • Main text
  • NIHMS643108-supplement-Supp_Material.docx
View BVdb publication page



Association of genetic ancestry with breast cancer in ethnically diverse women from Chicago.

Plos One
U Al-Alem, G Rauscher, E Shah, K Batai, A Mahmoud, E Beisner, A Silva, C Peterson, R Kittles
Publication Date: 2014

Variant appearance in text: rs1129038
PubMed Link: 25423363
Variant Present in the following documents:
  • pone.0112916.s001.docx
  • pone.0112916.s003.xlsx
  • pone.0112916.s004.xlsx
  • pone.0112916.s005.xlsx
View BVdb publication page



Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa.

Bmc Genomics
C Alkan, P Kavak, M Somel, O Gokcumen, S Ugurlu, C Saygi, E Dal, K Bugra, T Güngör, SC Sahinalp, N Özören, C Bekpen
Publication Date: 2014-11-07

Variant appearance in text: rs1129038
PubMed Link: 25376095
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic factors associated with naevus count and dermoscopic patterns: preliminary results from the Study of Nevi in Children (SONIC).

The British Journal Of Dermatology
I Orlow, JM Satagopan, M Berwick, HL Enriquez, KA White, K Cheung, SW Dusza, SA Oliveria, MA Marchetti, A Scope, AA Marghoob, AC Halpern
Publication Date: 2015-04

Variant appearance in text: rs1129038
PubMed Link: 25307738
Variant Present in the following documents:
  • Main text
  • bjd0172-1081-sd1.pdf
View BVdb publication page



The South Asian genome.

Plos One
JC Chambers, J Abbott, W Zhang, E Turro, WR Scott, ST Tan, U Afzal, S Afaq, M Loh, B Lehne, P O'Reilly, KJ Gaulton, RD Pearson, X Li, A Lavery, J Vandrovcova, MN Wass, K Miller, J Sehmi, L Oozageer, IK Kooner, A Al-Hussaini, R Mills, J Grewal, V Panoulas, AM Lewin, K Northwood, GS Wander, F Geoghegan, Y Li, J Wang, TJ Aitman, MI McCarthy, J Scott, S Butcher, P Elliott, JS Kooner
Publication Date: 2014

Variant appearance in text: rs1129038
PubMed Link: 25115870
Variant Present in the following documents:
  • pone.0102645.s022.xlsx
View BVdb publication page



Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions.

International Journal Of Cancer
JH Barrett, JC Taylor, C Bright, M Harland, AM Dunning, LA Akslen, PA Andresen, MF Avril, E Azizi, G Bianchi Scarrà, M Brossard, KM Brown, T Dębniak, DE Elder, E Friedman, P Ghiorzo, EM Gillanders, NA Gruis, J Hansson, P Helsing, M Hočevar, V Höiom, C Ingvar, MT Landi, J Lang, GM Lathrop, J Lubiński, RM Mackie, A Molven, S Novaković, H Olsson, S Puig, JA Puig-Butille, N van der Stoep, R van Doorn, W van Workum, AM Goldstein, PA Kanetsky, PD Pharoah, F Demenais, NK Hayward, JA Newton Bishop, DT Bishop, MM Iles,
Publication Date: 2015-03-15

Variant appearance in text: rs1129038
PubMed Link: 25077817
Variant Present in the following documents:
  • Main text
View BVdb publication page



Implications of the admixture process in skin color molecular assessment.

Plos One
CC Cerqueira, T Hünemeier, J Gomez-Valdés, V Ramallo, CD Volasko-Krause, AA Barbosa, P Vargas-Pinilla, RC Dornelles, D Longo, F Rothhammer, G Bedoya, S Canizales-Quinteros, V Acuña-Alonzo, C Gallo, G Poletti, R González-José, FM Salzano, SM Callegari-Jacques, L Schuler-Faccini, A Ruiz-Linares, M Cátira Bortolini,
Publication Date: 2014

Variant appearance in text: rs1129038
PubMed Link: 24809478
Variant Present in the following documents:
  • Main text
  • pone.0096886.s001.docx
View BVdb publication page



Variants associated with susceptibility to pancreatic cancer and melanoma do not reciprocally affect risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
L Wu, AM Goldstein, K Yu, XR Yang, KG Rabe, AA Arslan, F Canzian, BM Wolpin, R Stolzenberg-Solomon, LT Amundadottir, GM Petersen
Publication Date: 2014-06

Variant appearance in text: rs1129038
PubMed Link: 24642353
Variant Present in the following documents:
  • Main text
View BVdb publication page



Derived immune and ancestral pigmentation alleles in a 7,000-year-old Mesolithic European.

Nature
I Olalde, ME Allentoft, F Sánchez-Quinto, G Santpere, CW Chiang, M DeGiorgio, J Prado-Martinez, JA Rodríguez, S Rasmussen, J Quilez, O Ramírez, UM Marigorta, M Fernández-Callejo, ME Prada, JM Encinas, R Nielsen, MG Netea, J Novembre, RA Sturm, P Sabeti, T Marquès-Bonet, A Navarro, E Willerslev, C Lalueza-Fox
Publication Date: 2014-03-13

Variant appearance in text: rs1129038
PubMed Link: 24463515
Variant Present in the following documents:
  • NIHMS643758-supplement-Supplementary_Online_Material.docx
View BVdb publication page



Joint effect of multiple common SNPs predicts melanoma susceptibility.

Plos One
S Fang, J Han, M Zhang, LE Wang, Q Wei, CI Amos, JE Lee
Publication Date: 2013

Variant appearance in text: rs1129038
PubMed Link: 24392023
Variant Present in the following documents:
  • pone.0085642.s001.pdf
View BVdb publication page



Natural and orthogonal model for estimating gene-gene interactions applied to cutaneous melanoma.

Human Genetics
F Xiao, J Ma, G Cai, S Fang, JE Lee, Q Wei, CI Amos
Publication Date: 2014-05

Variant appearance in text: rs1129038
PubMed Link: 24241239
Variant Present in the following documents:
  • Main text
View BVdb publication page



Influence of seasonal sunlight intensity and iris color on the anti-VEGF therapy for neovascular age-related macular degeneration.

Eye (London, England)
C Brockmann, T Brockmann, J Dawczynski
Publication Date: 2013-10

Variant appearance in text: rs1129038
PubMed Link: 23907626
Variant Present in the following documents:
  • Main text
View BVdb publication page



Update on the Epidemiology of Melanoma.

Current Dermatology Reports
ST Chen, AC Geller, H Tsao
Publication Date: 2013-03-01

Variant appearance in text: rs1129038
PubMed Link: 23580930
Variant Present in the following documents:
  • Main text
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: rs1129038
PubMed Link: 23486544
Variant Present in the following documents:
  • Main text
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: rs1129038
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



Association of serum lipid components and obesity with genetic ancestry in an admixed population of elderly women.

Genetics And Molecular Biology
TC Lins, AS Pires, RS Paula, CF Moraes, RG Vieira, LG Vianna, OT Nobrega, RW Pereira
Publication Date: 2012-07

Variant appearance in text: rs1129038
PubMed Link: 23055794
Variant Present in the following documents:
  • Main text
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Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.

Nature Genetics
Y Jin, SA Birlea, PR Fain, TM Ferrara, S Ben, SL Riccardi, JB Cole, K Gowan, PJ Holland, DC Bennett, RM Luiten, A Wolkerstorfer, JP van der Veen, A Hartmann, S Eichner, G Schuler, N van Geel, J Lambert, EH Kemp, DJ Gawkrodger, AP Weetman, A Taïeb, T Jouary, K Ezzedine, MR Wallace, WT McCormack, M Picardo, G Leone, A Overbeck, NB Silverberg, RA Spritz
Publication Date: 2012-05-06

Variant appearance in text: rs1129038
PubMed Link: 22561518
Variant Present in the following documents:
  • Main text
  • NIHMS370049-supplement-1.pdf
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Genomic ancestry, self-reported "color" and quantitative measures of skin pigmentation in Brazilian admixed siblings.

Plos One
TK Leite, RM Fonseca, NM de França, EJ Parra, RW Pereira
Publication Date: 2011

Variant appearance in text: rs1129038
PubMed Link: 22073278
Variant Present in the following documents:
  • Main text
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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: rs1129038
PubMed Link: 22065085
Variant Present in the following documents:
  • Main text
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Genome-wide association study identifies novel loci predisposing to cutaneous melanoma.

Human Molecular Genetics
CI Amos, LE Wang, JE Lee, JE Gershenwald, WV Chen, S Fang, R Kosoy, M Zhang, AA Qureshi, S Vattathil, CW Schacherer, JM Gardner, Y Wang, DT Bishop, JH Barrett, , S MacGregor, NK Hayward, NG Martin, DL Duffy, , GJ Mann, A Cust, J Hopper, , KM Brown, EA Grimm, Y Xu, Y Han, K Jing, C McHugh, CC Laurie, KF Doheny, EW Pugh, MF Seldin, J Han, Q Wei
Publication Date: 2011-12-15

Variant appearance in text: rs1129038
PubMed Link: 21926416
Variant Present in the following documents:
  • Main text
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Genetic heterogeneity of self-reported ancestry groups in an admixed Brazilian population.

Journal Of Epidemiology
TC Lins, RG Vieira, BS Abreu, P Gentil, R Moreno-Lima, RJ Oliveira, RW Pereira
Publication Date: 2011

Variant appearance in text: rs1129038
PubMed Link: 21498954
Variant Present in the following documents:
  • Main text
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Genetically determined Amerindian ancestry correlates with increased frequency of risk alleles for systemic lupus erythematosus.

Arthritis And Rheumatism
E Sanchez, RD Webb, A Rasmussen, JA Kelly, L Riba, KM Kaufman, I Garcia-de la Torre, JF Moctezuma, MA Maradiaga-Ceceña, MH Cardiel-Rios, E Acevedo, M Cucho-Venegas, MA Garcia, S Gamron, BA Pons-Estel, C Vasconcelos, J Martin, T Tusié-Luna, JB Harley, B Richardson, AH Sawalha, ME Alarcón-Riquelme
Publication Date: 2010-12

Variant appearance in text: rs1129038
PubMed Link: 20848568
Variant Present in the following documents:
  • NIHMS272730-supplement-Supp_T1.doc
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Functional variants of the sphingosine-1-phosphate receptor 1 gene associate with asthma susceptibility.

The Journal Of Allergy And Clinical Immunology
X Sun, SF Ma, MS Wade, C Flores, M Pino-Yanes, J Moitra, C Ober, R Kittles, AN Husain, JG Ford, JG Garcia
Publication Date: 2010-08

Variant appearance in text: rs1129038
PubMed Link: 20624651
Variant Present in the following documents:
  • NIHMS206427-supplement-1.doc
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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: rs1129038
PubMed Link: 20463881
Variant Present in the following documents:
  • Main text
  • pgen.1000934.s005.doc
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Genetic determinants of hair and eye colours in the Scottish and Danish populations.

Bmc Genetics
J Mengel-From, TH Wong, N Morling, JL Rees, IJ Jackson
Publication Date: 2009-12-30

Variant appearance in text: rs1129038
PubMed Link: 20042077
Variant Present in the following documents:
  • Main text
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Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma.

The Journal Of Investigative Dermatology
DL Duffy, ZZ Zhao, RA Sturm, NK Hayward, NG Martin, GW Montgomery
Publication Date: 2010-02

Variant appearance in text: rs1129038
PubMed Link: 19710684
Variant Present in the following documents:
  • NIHMS468845-supplement-supplementary_data.doc
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Whole genome survey of coding SNPs reveals a reproducible pathway determinant of Parkinson disease.

Human Mutation
BS Srinivasan, J Doostzadeh, F Absalan, S Mohandessi, R Jalili, S Bigdeli, J Wang, J Mahadevan, CL Lee, RW Davis, J William Langston, M Ronaghi
Publication Date: 2009-02

Variant appearance in text: rs1129038
PubMed Link: 18853455
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
RA Sturm, DL Duffy, ZZ Zhao, FP Leite, MS Stark, NK Hayward, NG Martin, GW Montgomery
Publication Date: 2008-02

Variant appearance in text: rs1129038
PubMed Link: 18252222
Variant Present in the following documents:
  • Main text
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000261609.7 c.*50G>A - 3_prime_UTR_variant 93/93 -
ENST00000566635.1 n.1680G>A - non_coding_transcript_exon_variant 7/7 -
NM_004667.5 c.*50G>A - 3_prime_UTR_variant 93/93 -