Variant ID: 11-89011046-G-A

NM_000372.4(TYR):c.1185-6895G>A

This variant was identified in 110 publications




Publications:


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: rs1393350
PubMed Link: 32998469
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between brown eye colour in rs12913832:GG individuals and SNPs in TYR, TYRP1, and SLC24A4.

Plos One
OS Meyer, MMB Lunn, SL Garcia, AB Kjærbye, N Morling, C Børsting, JD Andersen
Publication Date: 2020

Variant appearance in text: rs1393350
PubMed Link: 32915910
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of the VISAGE Basic Tool for Appearance and Ancestry Prediction Using PowerSeq Chemistry on the MiSeq FGx System.

Genes
L Palencia-Madrid, C Xavier, M de la Puente, C Hohoff, C Phillips, M Kayser, W Parson
Publication Date: 2020-06-26

Variant appearance in text: rs1393350
PubMed Link: 32604780
Variant Present in the following documents:
  • Main text
View BVdb publication page



Eye color prediction using single nucleotide polymorphisms in Saudi population.

Saudi Journal Of Biological Sciences
J Alghamdi, M Amoudi, AC Kassab, M Al Mufarrej, S Al Ghamdi
Publication Date: 2019-11

Variant appearance in text: rs1393350
PubMed Link: 31762634
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Y-chromosome haplogroups from Hun, Avar and conquering Hungarian period nomadic people of the Carpathian Basin.

Scientific Reports
E Neparáczki, Z Maróti, T Kalmár, K Maár, I Nagy, D Latinovics, Á Kustár, G Pálfi, E Molnár, A Marcsik, C Balogh, G Lőrinczy, SS Gál, P Tomka, B Kovacsóczy, L Kovács, I Raskó, T Török
Publication Date: 2019-11-12

Variant appearance in text: rs1393350
PubMed Link: 31719606
Variant Present in the following documents:
  • 41598_2019_53105_MOESM2_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: rs1393350
PubMed Link: 31550250
Variant Present in the following documents:
  • pgen.1008385.s029.xlsx
View BVdb publication page



An approximate full-likelihood method for inferring selection and allele frequency trajectories from DNA sequence data.

Plos Genetics
AJ Stern, PR Wilton, R Nielsen
Publication Date: 2019-09

Variant appearance in text: rs1393350
PubMed Link: 31518343
Variant Present in the following documents:
  • Main text
  • pgen.1008384.pdf
View BVdb publication page



"The dead shall be raised": Multidisciplinary analysis of human skeletons reveals complexity in 19th century immigrant socioeconomic history and identity in New Haven, Connecticut.

Plos One
GP Aronsen, L Fehren-Schmitz, J Krigbaum, GD Kamenov, GJ Conlogue, C Warinner, AT Ozga, K Sankaranarayanan, A Griego, DW DeLuca, HT Eckels, RK Byczkiewicz, T Grgurich, NA Pelletier, SA Brownlee, A Marichal, K Williamson, Y Tonoike, NF Bellantoni
Publication Date: 2019

Variant appearance in text: rs1393350
PubMed Link: 31498793
Variant Present in the following documents:
  • Main text
  • pone.0219279.pdf
View BVdb publication page



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

Human Genetics
K Zaorska, P Zawierucha, M Nowicki
Publication Date: 2019-06

Variant appearance in text: rs1393350
PubMed Link: 30980179
Variant Present in the following documents:
  • Main text
View BVdb publication page



An overview of the latest developments in facial imaging.

Forensic Sciences Research
CN Stephan, JM Caple, P Guyomarc'h, P Claes
Publication Date: 2019

Variant appearance in text: rs1393350
PubMed Link: 30915414
Variant Present in the following documents:
  • Main text
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: rs1393350
PubMed Link: 30664655
Variant Present in the following documents:
  • 41467_2018_8147_MOESM1_ESM.pdf
View BVdb publication page



Genetic Landscape of Slovenians: Past Admixture and Natural Selection Pattern.

Frontiers In Genetics
P Maisano Delser, M Ravnik-Glavač, P Gasparini, D Glavač, M Mezzavilla
Publication Date: 2018

Variant appearance in text: rs1393350
PubMed Link: 30510563
Variant Present in the following documents:
  • Table_1.xlsx
View BVdb publication page



Ancient Fennoscandian genomes reveal origin and spread of Siberian ancestry in Europe.

Nature Communications
TC Lamnidis, K Majander, C Jeong, E Salmela, A Wessman, V Moiseyev, V Khartanovich, O Balanovsky, M Ongyerth, A Weihmann, A Sajantila, J Kelso, S Pääbo, P Onkamo, W Haak, J Krause, S Schiffels
Publication Date: 2018-11-27

Variant appearance in text: rs1393350
PubMed Link: 30479341
Variant Present in the following documents:
  • 41467_2018_7483_MOESM5_ESM.xlsx
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: rs1393350
PubMed Link: 30205563
Variant Present in the following documents:
  • Main text
View BVdb publication page



The digital age of melanoma management: detection and diagnostics.

Melanoma Management
AL Fogel, K Sarin
Publication Date: 2015-11

Variant appearance in text: rs1393350
PubMed Link: 30190865
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pigmentation phototype and prostate and breast cancer in a select Spanish population-A Mendelian randomization analysis in the MCC-Spain study.

Plos One
I Gómez-Acebo, T Dierssen-Sotos, C Palazuelos, P Fernández-Navarro, G Castaño-Vinyals, J Alonso-Molero, C Urtiaga, T Fernández-Villa, E Ardanaz, M Rivas-Del-Fresno, A Molina-Barceló, JJ Jiménez-Moleón, L García-Martinez, P Amiano, P Rodriguez-Cundin, V Moreno, B Pérez-Gómez, N Aragonés, M Kogevinas, M Pollán, J Llorca
Publication Date: 2018

Variant appearance in text: rs1393350
PubMed Link: 30106959
Variant Present in the following documents:
  • pone.0201750.s001.docx
  • pone.0201750.s002.docx
View BVdb publication page



Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Breast Cancer Research : Bcr
J Penkert, G Schmidt, W Hofmann, S Schubert, M Schieck, B Auber, T Ripperger, K Hackmann, M Sturm, H Prokisch, U Hille-Betz, D Mark, T Illig, B Schlegelberger, D Steinemann
Publication Date: 2018-08-07

Variant appearance in text: rs1393350
PubMed Link: 30086788
Variant Present in the following documents:
  • 13058_2018_1011_MOESM1_ESM.docx
View BVdb publication page



Assessing the Incremental Contribution of Common Genomic Variants to Melanoma Risk Prediction in Two Population-Based Studies.

The Journal Of Investigative Dermatology
AE Cust, M Drummond, PA Kanetsky, , , AM Goldstein, JH Barrett, S MacGregor, MH Law, MM Iles, M Bui, JL Hopper, M Brossard, F Demenais, JC Taylor, C Hoggart, KM Brown, MT Landi, JA Newton-Bishop, GJ Mann, DT Bishop
Publication Date: 2018-12

Variant appearance in text: rs1393350
PubMed Link: 29890168
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
View BVdb publication page



Genome-wide linkage analysis in Spanish melanoma-prone families identifies a new familial melanoma susceptibility locus at 11q.

European Journal Of Human Genetics : Ejhg
M Potrony, JA Puig-Butille, JM Farnham, P Giménez-Xavier, C Badenas, G Tell-Martí, P Aguilera, C Carrera, J Malvehy, CC Teerlink, S Puig
Publication Date: 2018-08

Variant appearance in text: rs1393350
PubMed Link: 29706638
Variant Present in the following documents:
  • 41431_2018_149_MOESM1_ESM.doc
  • 41431_2018_Article_149.pdf
  • aaaaaMain text
View BVdb publication page



Genetic and phenotypic variability of iris color in Buenos Aires population.

Genetics And Molecular Biology
DM Hohl, B Bezus, J Ratowiecki, CI Catanesi
Publication Date: 2018

Variant appearance in text: rs1393350
PubMed Link: 29658972
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intergenic disease-associated regions are abundant in novel transcripts.

Genome Biology
N Bartonicek, MB Clark, XC Quek, JR Torpy, AL Pritchard, JLV Maag, BS Gloss, J Crawford, RJ Taft, NK Hayward, GW Montgomery, JS Mattick, TR Mercer, ME Dinger
Publication Date: 2017-12-28

Variant appearance in text: rs1393350
PubMed Link: 29284497
Variant Present in the following documents:
  • 13059_2017_1363_MOESM1_ESM.xls
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: rs1393350
PubMed Link: 29195075
Variant Present in the following documents:
  • NIHMS921744-supplement-2.xlsx
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: rs1393350
PubMed Link: 28973033
Variant Present in the following documents:
  • pone.0185730.s006.docx
View BVdb publication page



Predicting hair cortisol levels with hair pigmentation genes: a possible hair pigmentation bias.

Scientific Reports
A Neumann, G Noppe, F Liu, M Kayser, FC Verhulst, VWV Jaddoe, EFC van Rossum, H Tiemeier
Publication Date: 2017-08-17

Variant appearance in text: rs1393350
PubMed Link: 28819144
Variant Present in the following documents:
  • 41598_2017_7034_MOESM1_ESM.pdf
  • aaaaaMain 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: rs1393350
PubMed Link: 28781888
Variant Present in the following documents:
  • 41525_2017_8_MOESM1_ESM.docx
View BVdb publication page



Adaptation of human skin color in various populations.

Hereditas
L Deng, S Xu
Publication Date: 2018

Variant appearance in text: rs1393350
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: rs1393350
PubMed Link: 28500464
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
C Lonjou, F Damiola, M Moissonnier, G Durand, I Malakhova, V Masyakin, F Le Calvez-Kelm, E Cardis, G Byrnes, A Kesminiene, F Lesueur
Publication Date: 2017-05-12

Variant appearance in text: rs1393350
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls
View BVdb publication page



Population genetics of immune-related multilocus copy number variation in Native Americans.

Journal Of The Royal Society, Interface
LW Zuccherato, S Schneider, E Tarazona-Santos, RJ Hardwick, DE Berg, H Bogle, MH Gouveia, LR Machado, M Machado, F Rodrigues-Soares, GB Soares-Souza, DL Togni, R Zamudio, RH Gilman, D Duarte, EJ Hollox, MR Rodrigues
Publication Date: 2017-03

Variant appearance in text: rs1393350
PubMed Link: 28356540
Variant Present in the following documents:
  • rsif20170057supp1.doc
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: rs1393350
PubMed Link: 28240252
Variant Present in the following documents:
  • Main text
  • srep43359-s1.doc
View BVdb publication page



Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma.

Oncotarget
KJ Ransohoff, W Wu, HG Cho, HC Chahal, Y Lin, HJ Dai, CI Amos, JE Lee, JY Tang, DA Hinds, J Han, Q Wei, KY Sarin
Publication Date: 2017-03-14

Variant appearance in text: rs1393350
PubMed Link: 28212542
Variant Present in the following documents:
  • Main text
  • oncotarget-08-17586-s001.pdf
  • oncotarget-08-17586-s002.docx
View BVdb publication page



The Neolithic Transition in the Baltic Was Not Driven by Admixture with Early European Farmers.

Current Biology : Cb
ER Jones, G Zarina, V Moiseyev, E Lightfoot, PR Nigst, A Manica, R Pinhasi, DG Bradley
Publication Date: 2017-02-20

Variant appearance in text: rs1393350
PubMed Link: 28162894
Variant Present in the following documents:
  • mmc1.pdf
  • mmc3.pdf
View BVdb publication page



Multidisciplinary Identification of the Controversial Freedom Fighter Jörg Jenatsch, Assassinated 1639 in Chur, Switzerland.

Plos One
M Haeusler, C Haas, S Lösch, N Moghaddam, IM Villa, S Walsh, M Kayser, R Seiler, F Ruehli, M Janosa, C Papageorgopoulou
Publication Date: 2016

Variant appearance in text: rs1393350
PubMed Link: 28030571
Variant Present in the following documents:
  • Main text
View BVdb publication page



Higher Nevus Count Exhibits a Distinct DNA Methylation Signature in Healthy Human Skin: Implications for Melanoma.

The Journal Of Investigative Dermatology
L Roos, JK Sandling, CG Bell, D Glass, M Mangino, TD Spector, P Deloukas, V Bataille, JT Bell
Publication Date: 2017-04

Variant appearance in text: rs1393350
PubMed Link: 27993549
Variant Present in the following documents:
  • Main text
View BVdb publication page



More comprehensive forensic genetic marker analyses for accurate human remains identification using massively parallel DNA sequencing.

Bmc Genomics
AD Ambers, JD Churchill, JL King, M Stoljarova, H Gill-King, M Assidi, M Abu-Elmagd, A Buhmeida, M Al-Qahtani, B Budowle
Publication Date: 2016-10-17

Variant appearance in text: rs1393350
PubMed Link: 27766958
Variant Present in the following documents:
  • 12864_2016_3087_MOESM4_ESM.xlsx
  • aaaaaMain text
View BVdb publication page



Nonsyndromic cleft lip with or without cleft palate and cancer: Evaluation of a possible common genetic background through the analysis of GWAS data.

Genomics Data
E Dunkhase, KU Ludwig, M Knapp, CF Skibola, JC Figueiredo, FJ Hosking, E Ellinghaus, MT Landi, H Ma, H Nakagawa, JW Kim, J Han, P Yang, AC Böhmer, M Mattheisen, MM Nöthen, E Mangold
Publication Date: 2016-12

Variant appearance in text: rs1393350
PubMed Link: 27630819
Variant Present in the following documents:
  • mmc1.docx
View BVdb publication page



Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.

Nature Communications
HS Chahal, W Wu, KJ Ransohoff, L Yang, H Hedlin, M Desai, Y Lin, HJ Dai, AA Qureshi, WQ Li, P Kraft, DA Hinds, JY Tang, J Han, KY Sarin
Publication Date: 2016-08-19

Variant appearance in text: rs1393350
PubMed Link: 27539887
Variant Present in the following documents:
  • ncomms12510-s1.pdf
View BVdb publication page



The genetics of an early Neolithic pastoralist from the Zagros, Iran.

Scientific Reports
M Gallego-Llorente, S Connell, ER Jones, DC Merrett, Y Jeon, A Eriksson, V Siska, C Gamba, C Meiklejohn, R Beyer, S Jeon, YS Cho, M Hofreiter, J Bhak, A Manica, R Pinhasi
Publication Date: 2016-08-09

Variant appearance in text: rs1393350
PubMed Link: 27502179
Variant Present in the following documents:
  • srep31326-s1.pdf
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: rs1393350
PubMed Link: 27499155
Variant Present in the following documents:
  • 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: rs1393350
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: rs1393350
PubMed Link: 27274049
Variant Present in the following documents:
  • pnas.1523951113.sapp.pdf
View BVdb publication page



Further evidence for population specific differences in the effect of DNA markers and gender on eye colour prediction in forensics.

International Journal Of Legal Medicine
E Pośpiech, J Karłowska-Pik, B Ziemkiewicz, M Kukla, M Skowron, A Wojas-Pelc, W Branicki
Publication Date: 2016-07

Variant appearance in text: rs1393350
PubMed Link: 27221533
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evolutionary triangulation: informing genetic association studies with evolutionary evidence.

Biodata Mining
M Huang, BE Graham, G Zhang, R Harder, N Kodaman, JH Moore, L Muglia, SM Williams
Publication Date: 2016

Variant appearance in text: rs1393350
PubMed Link: 27042214
Variant Present in the following documents:
  • 13040_2016_91_MOESM2_ESM.xlsx
View BVdb publication page



The importance of p53 pathway genetics in inherited and somatic cancer genomes.

Nature Reviews. Cancer
G Stracquadanio, X Wang, MD Wallace, AM Grawenda, P Zhang, J Hewitt, J Zeron-Medina, F Castro-Giner, IP Tomlinson, CR Goding, KJ Cygan, WG Fairbrother, LF Thomas, P Sætrom, F Gemignani, S Landi, B Schuster-Böckler, DA Bell, GL Bond
Publication Date: 2016-04

Variant appearance in text: rs1393350
PubMed Link: 27009395
Variant Present in the following documents:
  • NIHMS1050347-supplement-Supplementary_table.docx
View BVdb publication page



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

Plos One
P Johansen, JD Andersen, LN Madsen, H Ullum, M Glud, C Børsting, R Gniadecki, N Morling
Publication Date: 2016

Variant appearance in text: rs1393350
PubMed Link: 26938746
Variant Present in the following documents:
  • pone.0150381.s001.docx
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: rs1393350
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: rs1393350
PubMed Link: 26829030
Variant Present in the following documents:
  • NIHMS756128-supplement-Supplemantary_Materials.pdf
View BVdb publication page



Upper Palaeolithic genomes reveal deep roots of modern Eurasians.

Nature Communications
ER Jones, G Gonzalez-Fortes, S Connell, V Siska, A Eriksson, R Martiniano, RL McLaughlin, M Gallego Llorente, LM Cassidy, C Gamba, T Meshveliani, O Bar-Yosef, W Müller, A Belfer-Cohen, Z Matskevich, N Jakeli, TFG Higham, M Currat, D Lordkipanidze, M Hofreiter, A Manica, R Pinhasi, DG Bradley
Publication Date: 2015-11-16

Variant appearance in text: rs1393350
PubMed Link: 26567969
Variant Present in the following documents:
  • ncomms9912-s1.pdf
View BVdb publication page



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

Bmc Genomics
M Corpas, W Valdivia-Granda, N Torres, B Greshake, A Coletta, A Knaus, AP Harrison, M Cariaso, F Moran, F Nielsen, D Swan, DY Weiss Solís, P Krawitz, F Schacherer, P Schols, H Yang, P Borry, G Glusman, PN Robinson
Publication Date: 2015-11-07

Variant appearance in text: rs1393350
PubMed Link: 26547235
Variant Present in the following documents:
  • Main text
View BVdb publication page



CPAG: software for leveraging pleiotropy in GWAS to reveal similarity between human traits links plasma fatty acids and intestinal inflammation.

Genome Biology
L Wang, SH Oehlers, ST Espenschied, JF Rawls, DM Tobin, DC Ko
Publication Date: 2015-09-15

Variant appearance in text: rs1393350
PubMed Link: 26374098
Variant Present in the following documents:
  • 13059_2015_722_MOESM1_ESM.docx
View BVdb publication page



Pleiotropic analysis of cancer risk loci on esophageal adenocarcinoma risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
E Lee, DO Stram, WE Ek, LE Onstad, S MacGregor, P Gharahkhani, W Ye, J Lagergren, NJ Shaheen, LJ Murray, LJ Hardie, MD Gammon, WH Chow, HA Risch, DA Corley, DM Levine, DC Whiteman, L Bernstein, NC Bird, TL Vaughan, AH Wu
Publication Date: 2015-11

Variant appearance in text: rs1393350
PubMed Link: 26364162
Variant Present in the following documents:
  • NIHMS728139-supplement-1.xlsx
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: rs1393350
PubMed Link: 26286644
Variant Present in the following documents:
  • Main text
  • ejhg2015167x1.doc
View BVdb publication page



Clinical and Genetic Factors Associated with Cutaneous Squamous Cell Carcinoma in Kidney and Heart Transplant Recipients.

Transplantation Direct
ML Sanders, JH Karnes, JC Denny, DM Roden, TA Ikizler, KA Birdwell
Publication Date: 2015-05

Variant appearance in text: rs1393350
PubMed Link: 26146661
Variant Present in the following documents:
  • txd-1-e13-s001.docx
View BVdb publication page



Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up.

Human Genetics
F Liu, M Visser, DL Duffy, PG Hysi, LC Jacobs, O Lao, K Zhong, S Walsh, L Chaitanya, A Wollstein, G Zhu, GW Montgomery, AK Henders, M Mangino, D Glass, V Bataille, RA Sturm, F Rivadeneira, A Hofman, WF van IJcken, AG Uitterlinden, RJ Palstra, TD Spector, NG Martin, TE Nijsten, M Kayser
Publication Date: 2015-08

Variant appearance in text: rs1393350
PubMed Link: 25963972
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: rs1393350
PubMed Link: 25837821
Variant Present in the following documents:
  • NIHMS676865-supplement-2.pdf
View BVdb publication page



Burden of disease variants in participants of the Long Life Family Study.

Aging
M Stevenson, H Bae, N Schupf, S Andersen, Q Zhang, T Perls, P Sebastiani
Publication Date: 2015-02

Variant appearance in text: rs1393350
PubMed Link: 25664523
Variant Present in the following documents:
  • aging-07-0123-s001.docx
View BVdb publication page



A Web-based database of genetic association studies in cutaneous melanoma enhanced with network-driven data exploration tools.

Database : The Journal Of Biological Databases And Curation
EI Athanasiadis, K Antonopoulou, F Chatzinasiou, CM Lill, MM Bourdakou, A Sakellariou, K Kypreou, I Stefanaki, E Evangelou, JP Ioannidis, L Bertram, AJ Stratigos, GM Spyrou
Publication Date: 2014

Variant appearance in text: rs1393350
PubMed Link: 25380778
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome flux and stasis in a five millennium transect of European prehistory.

Nature Communications
C Gamba, ER Jones, MD Teasdale, RL McLaughlin, G Gonzalez-Fortes, V Mattiangeli, L Domboróczki, I Kővári, I Pap, A Anders, A Whittle, J Dani, P Raczky, TF Higham, M Hofreiter, DG Bradley, R Pinhasi
Publication Date: 2014-10-21

Variant appearance in text: rs1393350
PubMed Link: 25334030
Variant Present in the following documents:
  • ncomms6257-s1.pdf
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: rs1393350
PubMed Link: 25307738
Variant Present in the following documents:
  • bjd0172-1081-sd1.pdf
View BVdb publication page



Bayesian variable selection for hierarchical gene-environment and gene-gene interactions.

Human Genetics
C Liu, J Ma, CI Amos
Publication Date: 2015-01

Variant appearance in text: rs1393350
PubMed Link: 25154630
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of cancer susceptibility variants with risk of multiple primary cancers: The population architecture using genomics and epidemiology study.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
SL Park, CP Caberto, Y Lin, RJ Goodloe, L Dumitrescu, SA Love, TC Matise, LA Hindorff, JH Fowke, FR Schumacher, J Beebe-Dimmer, C Chen, L Hou, F Thomas, E Deelman, Y Han, U Peters, KE North, G Heiss, DC Crawford, CA Haiman, LR Wilkens, WS Bush, C Kooperberg, I Cheng, L Le Marchand
Publication Date: 2014-11

Variant appearance in text: rs1393350
PubMed Link: 25139936
Variant Present in the following documents:
  • NIHMS622393-supplement-1.docx
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: rs1393350
PubMed Link: 25077817
Variant Present in the following documents:
  • Main text
  • ijc0136-1351-sd3.xlsx
View BVdb publication page



Top associated SNPs in prostate cancer are significantly enriched in cis-expression quantitative trait loci and at transcription factor binding sites.

Oncotarget
J Jiang, P Jia, B Shen, Z Zhao
Publication Date: 2014-08-15

Variant appearance in text: rs1393350
PubMed Link: 25026280
Variant Present in the following documents:
  • oncotarget-05-6168-s001.pdf
View BVdb publication page



Identification of a melanoma susceptibility locus and somatic mutation in TET2.

Carcinogenesis
F Song, CI Amos, JE Lee, CG Lian, S Fang, H Liu, S MacGregor, MM Iles, MH Law, NI Lindeman, GW Montgomery, DL Duffy, AE Cust, MA Jenkins, DC Whiteman, RF Kefford, GG Giles, BK Armstrong, JF Aitken, JL Hopper, KM Brown, NG Martin, GJ Mann, DT Bishop, JA Bishop, , P Kraft, AA Qureshi, PA Kanetsky, NK Hayward, DJ Hunter, Q Wei, J Han
Publication Date: 2014-09

Variant appearance in text: rs1393350
PubMed Link: 24980573
Variant Present in the following documents:
  • Main text
View BVdb publication page



Skin pigmentation, sun exposure and vitamin D levels in children of the Avon Longitudinal Study of Parents and Children.

Bmc Public Health
C Bonilla, AR Ness, AK Wills, DA Lawlor, SJ Lewis, G Davey Smith
Publication Date: 2014-06-12

Variant appearance in text: rs1393350
PubMed Link: 24924479
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome-wide association study of endometrial cancer in a multiethnic population.

Plos One
MM Chen, M Crous-Bou, VW Setiawan, J Prescott, SH Olson, N Wentzensen, A Black, L Brinton, C Chen, C Chen, LS Cook, J Doherty, CM Friedenreich, SE Hankinson, P Hartge, BE Henderson, DJ Hunter, L Le Marchand, X Liang, J Lissowska, L Lu, I Orlow, S Petruzella, S Polidoro, L Pooler, TR Rebbeck, H Risch, C Sacerdote, F Schumacher, X Sheng, XO Shu, NS Weiss, L Xia, D Van Den Berg, HP Yang, H Yu, S Chanock, C Haiman, P Kraft, I De Vivo
Publication Date: 2014

Variant appearance in text: rs1393350
PubMed Link: 24810602
Variant Present in the following documents:
  • pone.0097045.s001.xlsx
View BVdb publication page



Genomic analysis of the blood attributed to Louis XVI (1754-1793), king of France.

Scientific Reports
I Olalde, F Sánchez-Quinto, D Datta, UM Marigorta, CW Chiang, JA Rodríguez, M Fernández-Callejo, I González, M Montfort, L Matas-Lalueza, S Civit, D Luiselli, P Charlier, D Pettener, O Ramírez, A Navarro, H Himmelbauer, T Marquès-Bonet, C Lalueza-Fox
Publication Date: 2014-04-24

Variant appearance in text: rs1393350
PubMed Link: 24763138
Variant Present in the following documents:
  • srep04666-s1.pdf
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: rs1393350
PubMed Link: 24642353
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication of associations between GWAS SNPs and melanoma risk in the Population Architecture Using Genomics and Epidemiology (PAGE) Study.

The Journal Of Investigative Dermatology
JM Kocarnik, SL Park, J Han, L Dumitrescu, I Cheng, LR Wilkens, FR Schumacher, L Kolonel, CS Carlson, DC Crawford, RJ Goodloe, H Dilks, P Baker, D Richardson, JL Ambite, F Song, AA Quresh, M Zhang, D Duggan, C Hutter, LA Hindorff, WS Bush, C Kooperberg, L Le Marchand, U Peters
Publication Date: 2014-07

Variant appearance in text: rs1393350
PubMed Link: 24480881
Variant Present in the following documents:
  • Main text
  • NIHMS560811-supplement-corrected_supplement.docx
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: rs1393350
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: rs1393350
PubMed Link: 24392023
Variant Present in the following documents:
  • pone.0085642.s001.pdf
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: rs1393350
PubMed Link: 24274136
Variant Present in the following documents:
  • 1471-2458-13-1094-S2.xlsx
  • aaaaaMain text
View BVdb publication page



Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data.

Nature Biotechnology
JC Denny, L Bastarache, MD Ritchie, RJ Carroll, R Zink, JD Mosley, JR Field, JM Pulley, AH Ramirez, E Bowton, MA Basford, DS Carrell, PL Peissig, AN Kho, JA Pacheco, LV Rasmussen, DR Crosslin, PK Crane, J Pathak, SJ Bielinski, SA Pendergrass, H Xu, LA Hindorff, R Li, TA Manolio, CG Chute, RL Chisholm, EB Larson, GP Jarvik, MH Brilliant, CA McCarty, IJ Kullo, JL Haines, DC Crawford, DR Masys, DM Roden
Publication Date: 2013-12

Variant appearance in text: rs1393350
PubMed Link: 24270849
Variant Present in the following documents:
  • NIHMS561785-supplement-supplementary_data.pdf
View BVdb publication page



Prediction of eye color in the Slovenian population using the IrisPlex SNPs.

Croatian Medical Journal
V Kastelic, E Pośpiech, J Draus-Barini, W Branicki, K Drobnič
Publication Date: 2013-08

Variant appearance in text: rs1393350
PubMed Link: 23986280
Variant Present in the following documents:
  • Main text
  • CroatMedJ_54_s001.pdf
  • CroatMedJ_54_s002.pdf
View BVdb publication page



Pleiotropic effects of genetic risk variants for other cancers on colorectal cancer risk: PAGE, GECCO and CCFR consortia.

Gut
I Cheng, JM Kocarnik, L Dumitrescu, NM Lindor, J Chang-Claude, CL Avery, CP Caberto, SA Love, ML Slattery, AT Chan, JA Baron, LA Hindorff, SL Park, FR Schumacher, M Hoffmeister, P Kraft, AM Butler, DJ Duggan, L Hou, CS Carlson, KR Monroe, Y Lin, CL Carty, S Mann, J Ma, EL Giovannucci, CS Fuchs, PA Newcomb, MA Jenkins, JL Hopper, RW Haile, DV Conti, PT Campbell, JD Potter, BJ Caan, RE Schoen, RB Hayes, SJ Chanock, SI Berndt, S Küry, S Bézieau, JL Ambite, G Kumaraguruparan, DM Richardson, RJ Goodloe, HH Dilks, P Baker, BW Zanke, M Lemire, S Gallinger, L Hsu, S Jiao, TA Harrison, D Seminara, CA Haiman, C Kooperberg, LR Wilkens, CM Hutter, E White, DC Crawford, G Heiss, TJ Hudson, H Brenner, WS Bush, G Casey, L Le Marchand, U Peters
Publication Date: 2014-05

Variant appearance in text: rs1393350
PubMed Link: 23935004
Variant Present in the following documents:
  • NIHMS522475-supplement-SUPPLEMENTAL_table_3.xlsx
View BVdb publication page



A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes.

European Journal Of Human Genetics : Ejhg
CQ Chang, A Yesupriya, JL Rowell, CB Pimentel, M Clyne, M Gwinn, MJ Khoury, A Wulf, SD Schully
Publication Date: 2014-03

Variant appearance in text: rs1393350
PubMed Link: 23881057
Variant Present in the following documents:
  • ejhg2013161x1.xls
View BVdb publication page



Allelic frequencies of 20 visible phenotype variants in the korean population.

Genomics & Informatics
JE Lim, B Oh
Publication Date: 2013-06

Variant appearance in text: rs1393350
PubMed Link: 23843775
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: rs1393350
PubMed Link: 23580930
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
C Bonilla, R Gilbert, JP Kemp, NJ Timpson, DM Evans, JL Donovan, FC Hamdy, DE Neal, WD Fraser, SG Davey, SJ Lewis, M Lathrop, RM Martin
Publication Date: 2013-04

Variant appearance in text: rs1393350
PubMed Link: 23441100
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication and predictive value of SNPs associated with melanoma and pigmentation traits in a Southern European case-control study.

Plos One
I Stefanaki, OA Panagiotou, E Kodela, H Gogas, KP Kypreou, F Chatzinasiou, V Nikolaou, M Plaka, I Kalfa, C Antoniou, JP Ioannidis, E Evangelou, AJ Stratigos
Publication Date: 2013

Variant appearance in text: rs1393350
PubMed Link: 23393597
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bona fide colour: DNA prediction of human eye and hair colour from ancient and contemporary skeletal remains.

Investigative Genetics
J Draus-Barini, S Walsh, E Pośpiech, T Kupiec, H Głąb, W Branicki, M Kayser
Publication Date: 2013-01-14

Variant appearance in text: rs1393350
PubMed Link: 23317428
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000263321.5 c.1185-6895G>A - intron_variant - 3/4
NM_000372.5 c.1185-6895G>A - intron_variant - 3/4