Variant ID: 15-28230318-C-T

NM_000275.2(OCA2):c.1256G>A;(p.Arg419Gln)

This variant was identified in 94 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: rs1800407
PubMed Link: 33318654
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: rs1800407
PubMed Link: 32998469
Variant Present in the following documents:
  • Main text
View BVdb publication page



Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.

Plos One
JE Rayner, DL Duffy, DJ Smit, K Jagirdar, KJ Lee, B De'Ambrosis, BM Smithers, EK McMeniman, AM McInerney-Leo, H Schaider, MS Stark, HP Soyer, RA Sturm
Publication Date: 2020

Variant appearance in text: OCA2: R419Q
PubMed Link: 32966289
Variant Present in the following documents:
  • Main text
View BVdb publication page



The distinctive geographic patterns of common pigmentation variants at the OCA2 gene.

Scientific Reports
KK Kidd, AJ Pakstis, MP Donnelly, O Bulbul, L Cherni, C Gurkan, L Kang, H Li, L Yun, P Paschou, KA Meiklejohn, E Haigh, WC Speed
Publication Date: 2020-09-22

Variant appearance in text: OCA2: Arg419Gln; rs1800407
PubMed Link: 32963319
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: rs1800407
PubMed Link: 32915910
Variant Present in the following documents:
  • Main text
View BVdb publication page



Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochimica Et Biophysica Acta. Biomembranes
P Wiriyasermkul, S Moriyama, S Nagamori
Publication Date: 2020-12-01

Variant appearance in text: OCA2: R419Q
PubMed Link: 32333855
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma.

Nature Communications
KY Sarin, Y Lin, R Daneshjou, A Ziyatdinov, G Thorleifsson, A Rubin, LM Pardo, W Wu, PA Khavari, A Uitterlinden, T Nijsten, AE Toland, JH Olafsson, B Sigurgeirsson, K Thorisdottir, E Jorgensen, AS Whittemore, P Kraft, SN Stacey, K Stefansson, MM Asgari, J Han
Publication Date: 2020-02-10

Variant appearance in text: rs1800407
PubMed Link: 32041948
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: rs1800407
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: rs1800407
PubMed Link: 31719606
Variant Present in the following documents:
  • 41598_2019_53105_MOESM2_ESM.xlsx
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: rs1800407
PubMed Link: 31498793
Variant Present in the following documents:
  • Main text
  • pone.0219279.pdf
View BVdb publication page



Plasticity of Drug-Naïve and Vemurafenib- or Trametinib-Resistant Melanoma Cells in Execution of Differentiation/Pigmentation Program.

Journal Of Oncology
M Czyz, M Sztiller-Sikorska, A Gajos-Michniewicz, M Osrodek, ML Hartman
Publication Date: 2019

Variant appearance in text: OCA2: R419Q; rs1800407
PubMed Link: 31354817
Variant Present in the following documents:
  • Main text
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: rs1800407
PubMed Link: 31315583
Variant Present in the following documents:
  • Main text
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: rs1800407
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: rs1800407
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: OCA2: R419Q; rs1800407
PubMed Link: 30664655
Variant Present in the following documents:
  • 41467_2018_8147_MOESM1_ESM.pdf
  • aaaaaMain text
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: rs1800407
PubMed Link: 30657907
Variant Present in the following documents:
  • Main text
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: rs1800407
PubMed Link: 30479341
Variant Present in the following documents:
  • 41467_2018_7483_MOESM5_ESM.xlsx
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: rs1800407
PubMed Link: 30306274
Variant Present in the following documents:
  • Main text
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: rs1800407
PubMed Link: 30205563
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: rs1800407
PubMed Link: 30106959
Variant Present in the following documents:
  • pone.0201750.s001.docx
  • pone.0201750.s002.docx
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: rs1800407
PubMed Link: 29753029
Variant Present in the following documents:
  • Main text
  • NIHMS958185-supplement-Supplementary_Tables.pdf
View BVdb publication page



Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure.

Nature Communications
A Visconti, DL Duffy, F Liu, G Zhu, W Wu, Y Chen, PG Hysi, C Zeng, M Sanna, MM Iles, PA Kanetsky, F Demenais, MA Hamer, AG Uitterlinden, MA Ikram, T Nijsten, NG Martin, M Kayser, TD Spector, J Han, V Bataille, M Falchi
Publication Date: 2018-05-08

Variant appearance in text: rs1800407
PubMed Link: 29739929
Variant Present in the following documents:
  • 41467_2018_4086_MOESM1_ESM.pdf
View BVdb publication page



Dissecting the Mutational Landscape of Cutaneous Melanoma: An Omic Analysis Based on Patients from Greece.

Cancers
G Kontogianni, G Piroti, I Maglogiannis, A Chatziioannou, O Papadodima
Publication Date: 2018-03-29

Variant appearance in text: rs1800407
PubMed Link: 29596374
Variant Present in the following documents:
  • Main text
View BVdb publication page



Quantifying the Polygenic Contribution to Cutaneous Squamous Cell Carcinoma Risk.

The Journal Of Investigative Dermatology
JE Sordillo, P Kraft, AC Wu, MM Asgari
Publication Date: 2018-07

Variant appearance in text: rs1800407
PubMed Link: 29452120
Variant Present in the following documents:
  • Main text
View BVdb publication page



Susceptibility Loci-Associated Cutaneous Squamous Cell Carcinoma Invasiveness.

The Journal Of Investigative Dermatology
W Wang, E Jorgenson, AS Whittemore, MM Asgari
Publication Date: 2018-03

Variant appearance in text: rs1800407
PubMed Link: 29054604
Variant Present in the following documents:
  • Main text
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: rs1800407
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: rs1800407
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: rs1800407
PubMed Link: 28701907
Variant Present in the following documents:
  • Main text
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: rs1800407
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: rs1800407
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: rs1800407
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls
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: OCA2: R419Q
PubMed Link: 28456133
Variant Present in the following documents:
  • Main text
View BVdb publication page



Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

Cell & Bioscience
J Gao, L D'Souza, K Wetherby, C Antolik, M Reeves, DR Adams, S Tumminia, X Wang
Publication Date: 2017

Variant appearance in text: OCA2: 1256G>A; Arg419Gln
PubMed Link: 28451379
Variant Present in the following documents:
  • Main text
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: rs1800407
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: rs1800407
PubMed Link: 28240252
Variant Present in the following documents:
  • Main text
  • srep43359-s1.doc
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: rs1800407
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: rs1800407
PubMed Link: 28030571
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: rs1800407
PubMed Link: 27766958
Variant Present in the following documents:
  • 12864_2016_3087_MOESM4_ESM.xlsx
  • aaaaaMain text
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: OCA2: R419Q; rs1800407
PubMed Link: 27539887
Variant Present in the following documents:
  • ncomms12510-s1.pdf
View BVdb publication page



The Deubiquitinase OTULIN Is an Essential Negative Regulator of Inflammation and Autoimmunity.

Cell
RB Damgaard, JA Walker, P Marco-Casanova, NV Morgan, HL Titheradge, PR Elliott, D McHale, ER Maher, ANJ McKenzie, D Komander
Publication Date: 2016-08-25

Variant appearance in text: rs1800407
PubMed Link: 27523608
Variant Present in the following documents:
  • mmc1.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: rs1800407
PubMed Link: 27502179
Variant Present in the following documents:
  • srep31326-s1.pdf
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: OCA2: Arg419Gln; rs1800407
PubMed Link: 27468418
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study identifies novel susceptibility loci for cutaneous squamous cell carcinoma.

Nature Communications
HS Chahal, Y Lin, KJ Ransohoff, DA Hinds, W Wu, HJ Dai, AA Qureshi, WQ Li, P Kraft, JY Tang, J Han, KY Sarin
Publication Date: 2016-07-18

Variant appearance in text: OCA2: R419Q; rs1800407
PubMed Link: 27424798
Variant Present in the following documents:
  • Main text
  • ncomms12048-s1.pdf
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: rs1800407
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: rs1800407
PubMed Link: 27221533
Variant Present in the following documents:
  • Main text
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: rs1800407
PubMed Link: 26938746
Variant Present in the following documents:
  • Main text
  • pone.0150381.s001.docx
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: rs1800407
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: rs1800407
PubMed Link: 26567969
Variant Present in the following documents:
  • ncomms9912-s1.pdf
View BVdb publication page



Novel Genetic Loci Associated With Retinal Microvascular Diameter.

Circulation. Cardiovascular Genetics
RA Jensen, X Sim, AV Smith, X Li, J Jakobsdóttir, CY Cheng, JA Brody, MF Cotch, B Mcknight, R Klein, JJ Wang, A Kifley, TB Harris, LJ Launer, KD Taylor, BE Klein, LJ Raffel, X Li, MA Ikram, CC Klaver, SJ van der Lee, U Mutlu, A Hofman, AG Uitterlinden, C Liu, AT Kraja, , P Mitchell, V Gudnason, JI Rotter, E Boerwinkle, CM van Duijn, BM Psaty, TY Wong
Publication Date: 2016-02

Variant appearance in text: rs1800407
PubMed Link: 26567291
Variant Present in the following documents:
  • Main text
  • NIHMS739316-supplement-001142_-_PAP.pdf
  • NIHMS739316-supplement-001142_-_Supplemental_Material.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: rs1800407
PubMed Link: 26547235
Variant Present in the following documents:
  • Main text
View BVdb publication page



Family-based genome scan for age at onset of late-onset Alzheimer's disease in whole exome sequencing data.

Genes, Brain, And Behavior
M Saad, Z Brkanac, EM Wijsman
Publication Date: 2015-11

Variant appearance in text: rs1800407
PubMed Link: 26394601
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: rs1800407
PubMed Link: 26286644
Variant Present in the following documents:
  • Main text
  • ejhg2015167x1.doc
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: rs1800407
PubMed Link: 25837821
Variant Present in the following documents:
  • Main text
  • NIHMS676865-supplement-2.pdf
  • NIHMS676865-supplement-3.pdf
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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: rs1800407
PubMed Link: 25334030
Variant Present in the following documents:
  • ncomms6257-s1.pdf
View BVdb publication page



Disease variants in genomes of 44 centenarians.

Molecular Genetics & Genomic Medicine
Y Freudenberg-Hua, J Freudenberg, V Vacic, A Abhyankar, AK Emde, D Ben-Avraham, N Barzilai, D Oschwald, E Christen, J Koppel, B Greenwald, RB Darnell, S Germer, G Atzmon, P Davies
Publication Date: 2014-09

Variant appearance in text: rs1800407
PubMed Link: 25333069
Variant Present in the following documents:
  • mgg30002-0438-SD1.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: rs1800407
PubMed Link: 25307738
Variant Present in the following documents:
  • Main text
  • bjd0172-1081-sd1.pdf
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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: OCA2: Arg419Gln; rs1800407
PubMed Link: 24809478
Variant Present in the following documents:
  • Main text
  • pone.0096886.s001.docx
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: rs1800407
PubMed Link: 24763138
Variant Present in the following documents:
  • srep04666-s1.pdf
View BVdb publication page



Haplotype differences for copy number variants in the 22q11.23 region among human populations: a pigmentation-based model for selective pressure.

European Journal Of Human Genetics : Ejhg
R Polimanti, S Piacentini, A Iorio, F De Angelis, A Kozlov, A Novelletto, M Fuciarelli
Publication Date: 2015-01

Variant appearance in text: rs1800407
PubMed Link: 24667780
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: OCA2: Arg419Gln; rs1800407
PubMed Link: 24463515
Variant Present in the following documents:
  • NIHMS643758-supplement-Supplementary_Online_Material.docx
View BVdb publication page



Association of genetic variants with self-assessed color categories in Brazilians.

Plos One
DF Durso, SP Bydlowski, MH Hutz, G Suarez-Kurtz, TR Magalhães, SD Pena
Publication Date: 2014

Variant appearance in text: rs1800407
PubMed Link: 24416183
Variant Present in the following documents:
  • Main text
  • pone.0083926.pdf
  • pone.0083926.s001.doc
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: rs1800407
PubMed Link: 24392023
Variant Present in the following documents:
  • pone.0085642.s001.pdf
View BVdb publication page



Mechanistic phenotypes: an aggregative phenotyping strategy to identify disease mechanisms using GWAS data.

Plos One
JD Mosley, SL Van Driest, EK Larkin, PE Weeke, JS Witte, QS Wells, JH Karnes, Y Guo, L Bastarache, LM Olson, CA McCarty, JA Pacheco, GP Jarvik, DS Carrell, EB Larson, DR Crosslin, IJ Kullo, G Tromp, H Kuivaniemi, DJ Carey, MD Ritchie, JC Denny, DM Roden
Publication Date: 2013

Variant appearance in text: rs1800407
PubMed Link: 24349080
Variant Present in the following documents:
  • pone.0081503.s006.xlsx
View BVdb publication page



Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

Peerj
JA O'Rawe, H Fang, S Rynearson, R Robison, ES Kiruluta, G Higgins, K Eilbeck, MG Reese, GJ Lyon
Publication Date: 2013

Variant appearance in text: rs1800407
PubMed Link: 24109560
Variant Present in the following documents:
  • peerj-01-177-s008.xlsx
  • peerj-01-177-s010.xlsx
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: rs1800407
PubMed Link: 23986280
Variant Present in the following documents:
  • Main text
  • CroatMedJ_54_s001.pdf
  • CroatMedJ_54_s002.pdf
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: rs1800407
PubMed Link: 23843775
Variant Present in the following documents:
  • Main text
View BVdb publication page



Determination of population origin: a comparison of autosomal SNPs, Y-chromosomal and mtDNA haplogroups using a Malagasy population as example.

European Journal Of Human Genetics : Ejhg
M Poetsch, A Wiegand, M Harder, R Blöhm, N Rakotomavo, S Freitag-Wolf, N von Wurmb-Schwark
Publication Date: 2013-12

Variant appearance in text: rs1800407
PubMed Link: 23612573
Variant Present in the following documents:
  • Main text
  • ejhg201351x6.doc
View BVdb publication page



DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

Human Mutation
DR Simeonov, X Wang, C Wang, Y Sergeev, M Dolinska, M Bower, R Fischer, D Winer, G Dubrovsky, JZ Balog, M Huizing, R Hart, WM Zein, WA Gahl, BP Brooks, DR Adams
Publication Date: 2013-06

Variant appearance in text: OCA2: 1256G>A; rs1800407
PubMed Link: 23504663
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: rs1800407
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: rs1800407
PubMed Link: 23317428
Variant Present in the following documents:
  • Main text
View BVdb publication page



Report of a novel OCA2 gene mutation and an investigation of OCA2 variants on melanoma risk in a familial melanoma pedigree.

Journal Of Dermatological Science
JE Hawkes, PB Cassidy, P Manga, RE Boissy, D Goldgar, L Cannon-Albright, SR Florell, SA Leachman
Publication Date: 2013-01

Variant appearance in text: rs1800407
PubMed Link: 23103111
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: rs1800407
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



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000353809.5 c.1184G>A p.Arg395Gln missense_variant 12/23 -
ENST00000354638.3 c.1256G>A p.Arg419Gln missense_variant 13/24 -
ENST00000382996.2 c.1256G>A p.Arg419Gln missense_variant 13/19 -
NM_000275.3 c.1256G>A p.Arg419Gln missense_variant 13/24 -
NM_001300984.2 c.1184G>A p.Arg395Gln missense_variant 12/23 -