MC1R c.451C>G ;(p.R151G)

Variant ID: 16-89986117-C-G

NM_002386.3(MC1R):c.451C>G;(p.R151G)

This variant was identified in 111 publications

View GRCh38 version.




Publications:


Accuracy of Eye and Hair Color Prediction in Mexican Mestizos from Monterrey City Based on ForenSeqTM DNA Signature Prep.

Genes
Aguilar-Velázquez, José Alonso JA; Llamas-de-Dios, Blanca Jeannete BJ; Córdova-Mercado, Miranda Fabiola MF; Coronado-Ávila, Carolina Elena CE; Salas-Salas, Orlando O; López-Quintero, Andrés A; Ramos-González, Benito B; Rangel-Villalobos, Héctor H
Publication Date: 2023-05-22

Variant appearance in text: rs1805007
PubMed Link: 37239480
Variant Present in the following documents:
  • genes-14-01120.pdf
View BVdb publication page



The relationship between single nucleotide polymorphisms and skin cancer susceptibility: A systematic review and network meta-analysis.

Frontiers In Oncology
Zhang, Lu L; Pozsgai, Éva É; Song, Yongan Y; Macharia, John J; Alfatafta, Huda H; Zheng, Jia J; Li, Zhaoyi Z; Liu, Hongbo H; Kiss, István I
Publication Date: 2023

Variant appearance in text: rs1805007
PubMed Link: 36874118
Variant Present in the following documents:
  • Main text
  • fonc-13-1094309.pdf
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The evolution of human skin pigmentation: A changing medley of vitamins, genetic variability, and UV radiation during human expansion.

American Journal Of Biological Anthropology
Lucock, Mark D MD
Publication Date: 2023-02

Variant appearance in text: rs1805007
PubMed Link: 36790744
Variant Present in the following documents:
  • Main text
  • AJPA-180-252.pdf
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Human profiling from STR and SNP analysis of tropical bed bug, Cimex hemipterus, for forensic science.

Scientific Reports
Lim, Li L; Ab Majid, Abdul Hafiz AH
Publication Date: 2023-01-27

Variant appearance in text: rs1805007
PubMed Link: 36707655
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_28774.pdf
View BVdb publication page



Skin Phototype and Disease: A Comprehensive Genetic Approach to Pigmentary Traits Pleiotropy Using PRS in the GCAT Cohort.

Genes
Farré, Xavier X; Blay, Natalia N; Cortés, Beatriz B; Carreras, Anna A; Iraola-Guzmán, Susana S; de Cid, Rafael R
Publication Date: 2023-01-05

Variant appearance in text: rs1805007
PubMed Link: 36672889
Variant Present in the following documents:
  • Main text
  • genes-14-00149.pdf
View BVdb publication page



Circulating messenger RNA variants as a potential biomarker for surveillance of hepatocellular carcinoma.

Frontiers In Oncology
Block, Timothy T; Zezulinski, Daniel D; Kaplan, David E DE; Lu, Jingqiao J; Zanine, Samantha S; Zhan, Tingting T; Doria, Cataldo C; Sayeed, Aejaz A
Publication Date: 2022

Variant appearance in text: rs1805007
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



A multi-phenotype analysis reveals 19 susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma.

Nature Communications
Seviiri, Mathias M; Law, Matthew H MH; Ong, Jue-Sheng JS; Gharahkhani, Puya P; Fontanillas, Pierre P; , ; Olsen, Catherine M CM; Whiteman, David C DC; MacGregor, Stuart S
Publication Date: 2022-12-10

Variant appearance in text: rs1805007
PubMed Link: 36496446
Variant Present in the following documents:
  • Main text
  • 41467_2022_35345_MOESM2_ESM.pdf
  • 41467_2022_Article_35345.pdf
View BVdb publication page



Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Cell
Waldman, Shamam S; Backenroth, Daniel D; Harney, Éadaoin É; Flohr, Stefan S; Neff, Nadia C NC; Buckley, Gina M GM; Fridman, Hila H; Akbari, Ali A; Rohland, Nadin N; Mallick, Swapan S; Olalde, Iñigo I; Cooper, Leo L; Lomes, Ariel A; Lipson, Joshua J; Cano Nistal, Jorge J; Yu, Jin J; Barzilai, Nir N; Peter, Inga I; Atzmon, Gil G; Ostrer, Harry H; Lencz, Todd T; Maruvka, Yosef E YE; Lämmerhirt, Maike M; Beider, Alexander A; Rutgers, Leonard V LV; Renson, Virginie V; Prufer, Keith M KM; Schiffels, Stephan S; Ringbauer, Harald H; Sczech, Karin K; Carmi, Shai S; Reich, David D
Publication Date: 2022-11-22

Variant appearance in text: rs1805007
PubMed Link: 36455558
Variant Present in the following documents:
  • NIHMS1852590-supplement-MMC1.pdf
View BVdb publication page



Multidisciplinary approach to Gorlin-Goltz syndrome: from diagnosis to surgical treatment of jawbones.

Maxillofacial Plastic And Reconstructive Surgery
Spadari, Francesco F; Pulicari, Federica F; Pellegrini, Matteo M; Scribante, Andrea A; Garagiola, Umberto U
Publication Date: 2022-07-18

Variant appearance in text: rs1805007
PubMed Link: 35843976
Variant Present in the following documents:
  • Main text
  • 40902_2022_Article_355.pdf
View BVdb publication page



Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways.

Communications Biology
Kim, Yuhree Y; Yin, Jie J; Huang, Hailiang H; Jorgenson, Eric E; Choquet, Hélène H; Asgari, Maryam M MM
Publication Date: 2022-04-21

Variant appearance in text: rs1805007
PubMed Link: 35449187
Variant Present in the following documents:
  • Main text
  • 42003_2022_Article_3301.pdf
View BVdb publication page



Genomic diversity and post-admixture adaptation in the Uyghurs.

National Science Review
Pan, Yuwen Y; Zhang, Chao C; Lu, Yan Y; Ning, Zhilin Z; Lu, Dongsheng D; Gao, Yang Y; Zhao, Xiaohan X; Yang, Yajun Y; Guan, Yaqun Y; Mamatyusupu, Dolikun D; Xu, Shuhua S
Publication Date: 2022-03

Variant appearance in text: rs1805007
PubMed Link: 35350227
Variant Present in the following documents:
  • nwab124_supplemental_file.pdf
View BVdb publication page



Unveiling forensically relevant biogeographic, phenotype and Y-chromosome SNP variation in Pakistani ethnic groups using a customized hybridisation enrichment forensic intelligence panel.

Plos One
Rauf, Sobiah S; Austin, Jeremy J JJ; Higgins, Denice D; Khan, Muhammad Ramzan MR
Publication Date: 2022

Variant appearance in text: rs1805007
PubMed Link: 35176104
Variant Present in the following documents:
  • Main text
  • pone.0264125.pdf
View BVdb publication page



Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology
Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M
Publication Date: 2022

Variant appearance in text: rs1805007
PubMed Link: 35112701
Variant Present in the following documents:
  • 1415-4757-GMB-45-1-e20210172-s6.pdf
  • 1415-4757-GMB-45-1-e20210172.pdf
View BVdb publication page



Haplotypes of single cancer driver genes and their local ancestry in a highly admixed long-lived population of Northeast Brazil.

Genetics And Molecular Biology
Galisa, Steffany Larissa Galdino SLG; Jacob, Priscila Lima PL; Farias, Allysson Allan de AA; Lemes, Renan Barbosa RB; Alves, Leandro Ucela LU; Nóbrega, Júlia Cristina Leite JCL; Zatz, Mayana M; Santos, Silvana S; Weller, Mathias M
Publication Date: 2022

Variant appearance in text: rs1805007
PubMed Link: 35112701
Variant Present in the following documents:
  • 1415-4757-GMB-45-1-e20210172.pdf
  • 1415-4757-GMB-45-1-e20210172-s6.pdf
View BVdb publication page



A Deep-Learning Approach for Inference of Selective Sweeps from the Ancestral Recombination Graph.

Molecular Biology And Evolution
Hejase, Hussein A HA; Mo, Ziyi Z; Campagna, Leonardo L; Siepel, Adam A
Publication Date: 2022-01-07

Variant appearance in text: rs1805007
PubMed Link: 34888675
Variant Present in the following documents:
  • Main text
  • msab332.pdf
View BVdb publication page



A Deep-Learning Approach for Inference of Selective Sweeps from the Ancestral Recombination Graph.

Molecular Biology And Evolution
Hejase, Hussein A HA; Mo, Ziyi Z; Campagna, Leonardo L; Siepel, Adam A
Publication Date: 2021-11-22

Variant appearance in text: rs1805007
PubMed Link: 34888675
Variant Present in the following documents:
  • Main text
  • msab332.pdf
View BVdb publication page



A large Canadian cohort provides insights into the genetic architecture of human hair colour.

Communications Biology
Lona-Durazo, Frida F; Mendes, Marla M; Thakur, Rohit R; Funderburk, Karen K; Zhang, Tongwu T; Kovacs, Michael A MA; Choi, Jiyeon J; Brown, Kevin M KM; Parra, Esteban J EJ
Publication Date: 2021-11-04

Variant appearance in text: rs1805007
PubMed Link: 34737440
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2764.pdf
View BVdb publication page



Pushing the Boundaries: Forensic DNA Phenotyping Challenged by Single-Cell Sequencing.

Genes
Diepenbroek, Marta M; Bayer, Birgit B; Anslinger, Katja K
Publication Date: 2021-08-30

Variant appearance in text: rs1805007
PubMed Link: 34573344
Variant Present in the following documents:
  • genes-12-01362.pdf
View BVdb publication page



Review of the Molecular Genetics of Basal Cell Carcinoma; Inherited Susceptibility, Somatic Mutations, and Targeted Therapeutics.

Cancers
Kilgour, James M JM; Jia, Justin L JL; Sarin, Kavita Y KY
Publication Date: 2021-07-31

Variant appearance in text: rs1805007
PubMed Link: 34359772
Variant Present in the following documents:
  • Main text
  • cancers-13-03870.pdf
View BVdb publication page



Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12

Variant appearance in text: rs1805007
PubMed Link: 34326492
Variant Present in the following documents:
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Moore, Bryn S BS; Luo, Jonathan Z JZ; Stepanchick, Ann N AN; Mirshahi, Tooraj T
Publication Date: 2021-12

Variant appearance in text: rs1805007
PubMed Link: 34326492
Variant Present in the following documents:
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Identifying Susceptibility Loci for Cutaneous Squamous Cell Carcinoma Using a Fast Sequence Kernel Association Test.

Frontiers In Genetics
Huang, Manyan M; Lyu, Chen C; Li, Xin X; Qureshi, Abrar A AA; Han, Jiali J; Li, Ming M
Publication Date: 2021

Variant appearance in text: rs1805007
PubMed Link: 34040636
Variant Present in the following documents:
  • Main text
View BVdb publication page



GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.

Scientific Reports
Christakoudi, Sofia S; Evangelou, Evangelos E; Riboli, Elio E; Tsilidis, Konstantinos K KK
Publication Date: 2021-05-21

Variant appearance in text: rs1805007
PubMed Link: 34021172
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic loci associated with skin pigmentation in African Americans and their effects on vitamin D deficiency.

Plos Genetics
Batai, Ken K; Cui, Zuxi Z; Arora, Amit A; Shah-Williams, Ebony E; Hernandez, Wenndy W; Ruden, Maria M; Hollowell, Courtney M P CMP; Hooker, Stanley E SE; Bathina, Madhavi M; Murphy, Adam B AB; Bonilla, Carolina C; Kittles, Rick A RA
Publication Date: 2021-02

Variant appearance in text: rs1805007
PubMed Link: 33600456
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of OpenArray™ as a Genotyping Method for Forensic DNA Phenotyping and Human Identification.

Genes
Ragazzo, Michele M; Puleri, Giulio G; Errichiello, Valeria V; Manzo, Laura L; Luzzi, Laura L; Potenza, Saverio S; Strafella, Claudia C; Peconi, Cristina C; Nicastro, Fabio F; Caputo, Valerio V; Giardina, Emiliano E
Publication Date: 2021-02-03

Variant appearance in text: rs1805007
PubMed Link: 33546406
Variant Present in the following documents:
  • Main text
  • genes-12-00221.pdf
View BVdb publication page



Dissecting dynamics and differences of selective pressures in the evolution of human pigmentation.

Biology Open
Huang, Xin X; Wang, Sijia S; Jin, Li L; He, Yungang Y
Publication Date: 2021-02-09

Variant appearance in text: rs1805007
PubMed Link: 33495209
Variant Present in the following documents:
  • Main text
View BVdb publication page



The evolution of skin pigmentation-associated variation in West Eurasia.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ju, Dan D; Mathieson, Iain I
Publication Date: 2021-01-05

Variant appearance in text: rs1805007
PubMed Link: 33443182
Variant Present in the following documents:
  • Main text
  • pnas.202009227.pdf
View BVdb publication page



Genetic ancestry, skin pigmentation, and the risk of cutaneous squamous cell carcinoma in Hispanic/Latino and non-Hispanic white populations.

Communications Biology
Jorgenson, Eric E; Choquet, Hélène H; Yin, Jie J; Hoffmann, Thomas J TJ; Banda, Yambazi Y; Kvale, Mark N MN; Risch, Neil N; Schaefer, Catherine C; Asgari, Maryam M MM
Publication Date: 2020-12-14

Variant appearance in text: rs1805007
PubMed Link: 33318654
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1461.pdf
View BVdb publication page



Investigating DNA methylation as a potential mediator between pigmentation genes, pigmentary traits and skin cancer.

Pigment Cell & Melanoma Research
Bonilla, Carolina C; Bertoni, Bernardo B; Min, Josine L JL; Hemani, Gibran G; , ; Elliott, Hannah R HR
Publication Date: 2021-09

Variant appearance in text: rs1805007
PubMed Link: 33248005
Variant Present in the following documents:
  • PCMR-34-892-s002.xlsx, sheet 7
View BVdb publication page



Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data.

Bmc Genomics
Pośpiech, Ewelina E; Kukla-Bartoszek, Magdalena M; Karłowska-Pik, Joanna J; Zieliński, Piotr P; Woźniak, Anna A; Boroń, Michał M; Dąbrowski, Michał M; Zubańska, Magdalena M; Jarosz, Agata A; Grzybowski, Tomasz T; Płoski, Rafał R; Spólnicka, Magdalena M; Branicki, Wojciech W
Publication Date: 2020-08-05

Variant appearance in text: rs1805007
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
View BVdb publication page



Heritable genetic variants in key cancer genes link cancer risk with anthropometric traits.

Journal Of Medical Genetics
Di Giovannantonio, Matteo M; Harris, Benjamin Hl BH; Zhang, Ping P; Kitchen-Smith, Isaac I; Xiong, Lingyun L; Sahgal, Natasha N; Stracquadanio, Giovanni G; Wallace, Marsha M; Blagden, Sarah S; Lord, Simon S; Harris, David D; Harris, Adrian H L AHL; Buffa, Francesca M FM; Bond, Gareth L GL
Publication Date: 2021-06

Variant appearance in text: rs1805007
PubMed Link: 32591342
Variant Present in the following documents:
  • Main text
  • jmedgenet-2019-106799.pdf
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
Landi, Maria Teresa MT; Bishop, D Timothy DT; MacGregor, Stuart S; Machiela, Mitchell J MJ; Stratigos, Alexander J AJ; Ghiorzo, Paola P; Brossard, Myriam M; Calista, Donato D; Choi, Jiyeon J; Fargnoli, Maria Concetta MC; Zhang, Tongwu T; Rodolfo, Monica M; Trower, Adam J AJ; Menin, Chiara C; Martinez, Jacobo J; Hadjisavvas, Andreas A; Song, Lei L; Stefanaki, Irene I; Scolyer, Richard R; Yang, Rose R; Goldstein, Alisa M AM; Potrony, Miriam M; Kypreou, Katerina P KP; Pastorino, Lorenza L; Queirolo, Paola P; Pellegrini, Cristina C; Cattaneo, Laura L; Zawistowski, Matthew M; Gimenez-Xavier, Pol P; Rodriguez, Arantxa A; Elefanti, Lisa L; Manoukian, Siranoush S; Rivoltini, Licia L; Smith, Blair H BH; Loizidou, Maria A MA; Del Regno, Laura L; Massi, Daniela D; Mandala, Mario M; Khosrotehrani, Kiarash K; Akslen, Lars A LA; Amos, Christopher I CI; Andresen, Per A PA; Avril, Marie-Françoise MF; Azizi, Esther E; Soyer, H Peter HP; Bataille, Veronique V; Dalmasso, Bruna B; Bowdler, Lisa M LM; Burdon, Kathryn P KP; Chen, Wei V WV; Codd, Veryan V; Craig, Jamie E JE; Dębniak, Tadeusz T; Falchi, Mario M; Fang, Shenying S; Friedman, Eitan E; Simi, Sarah S; Galan, Pilar P; Garcia-Casado, Zaida Z; Gillanders, Elizabeth M EM; Gordon, Scott S; Green, Adele A; Gruis, Nelleke A NA; Hansson, Johan J; Harland, Mark M; Harris, Jessica J; Helsing, Per P; Henders, Anjali A; Hočevar, Marko M; Höiom, Veronica V; Hunter, David D; Ingvar, Christian C; Kumar, Rajiv R; Lang, Julie J; Lathrop, G Mark GM; Lee, Jeffrey E JE; Li, Xin X; Lubiński, Jan J; Mackie, Rona M RM; Malt, Maryrose M; Malvehy, Josep J; McAloney, Kerrie K; Mohamdi, Hamida H; Molven, Anders A; Moses, Eric K EK; Neale, Rachel E RE; Novaković, Srdjan S; Nyholt, Dale R DR; Olsson, Håkan H; Orr, Nicholas N; Fritsche, Lars G LG; Puig-Butille, Joan Anton JA; Qureshi, Abrar A AA; Radford-Smith, Graham L GL; Randerson-Moor, Juliette J; Requena, Celia C; Rowe, Casey C; Samani, Nilesh J NJ; Sanna, Marianna M; Schadendorf, Dirk D; Schulze, Hans-Joachim HJ; Simms, Lisa A LA; Smithers, Mark M; Song, Fengju F; Swerdlow, Anthony J AJ; van der Stoep, Nienke N; Kukutsch, Nicole A NA; Visconti, Alessia A; Wallace, Leanne L; Ward, Sarah V SV; Wheeler, Lawrie L; Sturm, Richard A RA; Hutchinson, Amy A; Jones, Kristine K; Malasky, Michael M; Vogt, Aurelie A; Zhou, Weiyin W; Pooley, Karen A KA; Elder, David E DE; Han, Jiali J; Hicks, Belynda B; Hayward, Nicholas K NK; Kanetsky, Peter A PA; Brummett, Chad C; Montgomery, Grant W GW; Olsen, Catherine M CM; Hayward, Caroline C; Dunning, Alison M AM; Martin, Nicholas G NG; Evangelou, Evangelos E; Mann, Graham J GJ; Long, Georgina G; Pharoah, Paul D P PDP; Easton, Douglas F DF; Barrett, Jennifer H JH; Cust, Anne E AE; Abecasis, Goncalo G; Duffy, David L DL; Whiteman, David C DC; Gogas, Helen H; De Nicolo, Arcangela A; Tucker, Margaret A MA; Newton-Bishop, Julia A JA; , ; , ; , ; , ; , ; , ; , ; , ; , ; Peris, Ketty K; Chanock, Stephen J SJ; Demenais, Florence F; Brown, Kevin M KM; Puig, Susana S; Nagore, Eduardo E; Shi, Jianxin J; Iles, Mark M MM; Law, Matthew H MH
Publication Date: 2020-05

Variant appearance in text: rs1805007
PubMed Link: 32341527
Variant Present in the following documents:
  • Main text
  • NIHMS1574209-supplement-2.xlsx, sheet 10
  • nihms-1574209.pdf
View BVdb publication page



Corded Ware cultural complexity uncovered using genomic and isotopic analysis from south-eastern Poland.

Scientific Reports
Linderholm, Anna A; Kılınç, Gülşah Merve GM; Szczepanek, Anita A; Włodarczak, Piotr P; Jarosz, Paweł P; Belka, Zdzislaw Z; Dopieralska, Jolanta J; Werens, Karolina K; Górski, Jacek J; Mazurek, Mirosław M; Hozer, Monika M; Rybicka, Małgorzata M; Ostrowski, Mikołaj M; Bagińska, Jolanta J; Koman, Wiesław W; Rodríguez-Varela, Ricardo R; Storå, Jan J; Götherström, Anders A; Krzewińska, Maja M
Publication Date: 2020-04-14

Variant appearance in text: rs1805007
PubMed Link: 32303690
Variant Present in the following documents:
  • 41598_2020_63138_MOESM2_ESM.xlsx, sheet 12
  • 41598_2020_63138_MOESM2_ESM.xlsx, sheet 11
View BVdb publication page



Prostate cancer risk in patients with melanoma: A systematic review and meta-analysis.

Cancer Medicine
Acharya, Prakash P; Mathur, Mahesh M
Publication Date: 2020-05

Variant appearance in text: rs1805007
PubMed Link: 32175697
Variant Present in the following documents:
  • Main text
View BVdb publication page



Environmental UVR Levels and Skin Pigmentation Gene Variants Associated with Folate and Homocysteine Levels in an Elderly Cohort.

International Journal Of Environmental Research And Public Health
Jones, Patrice P; Lucock, Mark M; Scarlett, Christopher J CJ; Veysey, Martin M; Beckett, Emma E
Publication Date: 2020-02-28

Variant appearance in text: rs1805007
PubMed Link: 32121219
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
Sarin, Kavita Y KY; Lin, Yuan Y; Daneshjou, Roxana R; Ziyatdinov, Andrey A; Thorleifsson, Gudmar G; Rubin, Adam A; Pardo, Luba M LM; Wu, Wenting W; Khavari, Paul A PA; Uitterlinden, Andre A; Nijsten, Tamar T; Toland, Amanda E AE; Olafsson, Jon H JH; Sigurgeirsson, Bardur B; Thorisdottir, Kristin K; Jorgensen, Eric E; Whittemore, Alice S AS; Kraft, Peter P; Stacey, Simon N SN; Stefansson, Kari K; Asgari, Maryam M MM; Han, Jiali J
Publication Date: 2020-02-10

Variant appearance in text: rs1805007
PubMed Link: 32041948
Variant Present in the following documents:
  • 41467_2020_14594_MOESM2_ESM.pdf
View BVdb publication page



Detangling red hair from pain: phenotype-specific contributions from different genetic variants in melanocortin-1 receptor.

Pain
Zorina-Lichtenwalter, Katerina K; Maixner, William W; Diatchenko, Luda L
Publication Date: 2020-05

Variant appearance in text: rs1805007
PubMed Link: 31834199
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sex-Stratified Polygenic Risk Score Identifies Individuals at Increased Risk of Basal Cell Carcinoma.

The Journal Of Investigative Dermatology
Roberts, Michelle R MR; Sordillo, Joanne E JE; Kraft, Peter P; Asgari, Maryam M MM
Publication Date: 2020-05

Variant appearance in text: rs1805007
PubMed Link: 31682843
Variant Present in the following documents:
  • Main text
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
Aronsen, Gary P GP; Fehren-Schmitz, Lars L; Krigbaum, John J; Kamenov, George D GD; Conlogue, Gerald J GJ; Warinner, Christina C; Ozga, Andrew T AT; Sankaranarayanan, Krithivasan K; Griego, Anthony A; DeLuca, Daniel W DW; Eckels, Howard T HT; Byczkiewicz, Romuald K RK; Grgurich, Tania T; Pelletier, Natalie A NA; Brownlee, Sarah A SA; Marichal, Ana A; Williamson, Kylie K; Tonoike, Yukiko Y; Bellantoni, Nicholas F NF
Publication Date: 2019

Variant appearance in text: rs1805007
PubMed Link: 31498793
Variant Present in the following documents:
  • Main text
  • pone.0219279.pdf
View BVdb publication page



On estimating evolutionary probabilities of population variants.

Bmc Evolutionary Biology
Patel, Ravi R; Kumar, Sudhir S
Publication Date: 2019-06-25

Variant appearance in text: rs1805007
PubMed Link: 31238981
Variant Present in the following documents:
  • Main text
View BVdb publication page



Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

Human Molecular Genetics
Liyanage, Upekha E UE; Law, Matthew H MH; Han, Xikun X; An, Jiyuan J; Ong, Jue-Sheng JS; Gharahkhani, Puya P; Gordon, Scott S; Neale, Rachel E RE; Olsen, Catherine M CM; , ; MacGregor, Stuart S; Whiteman, David C DC
Publication Date: 2019-09-15

Variant appearance in text: rs1805007
PubMed Link: 31174203
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
Zaorska, Katarzyna K; Zawierucha, Piotr P; Nowicki, Michał M
Publication Date: 2019-06

Variant appearance in text: rs1805007
PubMed Link: 30980179
Variant Present in the following documents:
  • Main text
  • 439_2019_Article_2012.pdf
View BVdb publication page



Non-genetic and genetic predictors of a superficial first basal cell carcinoma.

Journal Of The European Academy Of Dermatology And Venereology : Jeadv
Verkouteren, J A C JAC; Pardo, L M LM; Uitterlinden, A G AG; Nijsten, T T
Publication Date: 2019-03

Variant appearance in text: rs1805007
PubMed Link: 30520188
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel pleiotropic risk loci for melanoma and nevus density implicate multiple biological pathways.

Nature Communications
Duffy, David L DL; Zhu, Gu G; Li, Xin X; Sanna, Marianna M; Iles, Mark M MM; Jacobs, Leonie C LC; Evans, David M DM; Yazar, Seyhan S; Beesley, Jonathan J; Law, Matthew H MH; Kraft, Peter P; Visconti, Alessia A; Taylor, John C JC; Liu, Fan F; Wright, Margaret J MJ; Henders, Anjali K AK; Bowdler, Lisa L; Glass, Dan D; Ikram, M Arfan MA; Uitterlinden, André G AG; Madden, Pamela A PA; Heath, Andrew C AC; Nelson, Elliot C EC; Green, Adele C AC; Chanock, Stephen S; Barrett, Jennifer H JH; Brown, Matthew A MA; Hayward, Nicholas K NK; MacGregor, Stuart S; Sturm, Richard A RA; Hewitt, Alex W AW; , ; Kayser, Manfred M; Hunter, David J DJ; Newton Bishop, Julia A JA; Spector, Timothy D TD; Montgomery, Grant W GW; Mackey, David A DA; Smith, George Davey GD; Nijsten, Tamar E TE; Bishop, D Timothy DT; Bataille, Veronique V; Falchi, Mario M; Han, Jiali J; Martin, Nicholas G NG
Publication Date: 2018-11-14

Variant appearance in text: rs1805007
PubMed Link: 30429480
Variant Present in the following documents:
  • 41467_2018_6649_MOESM1_ESM.pdf
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Gene expression imputation identifies candidate genes and susceptibility loci associated with cutaneous squamous cell carcinoma.

Nature Communications
Ioannidis, Nilah M NM; Wang, Wei W; Furlotte, Nicholas A NA; Hinds, David A DA; , ; Bustamante, Carlos D CD; Jorgenson, Eric E; Asgari, Maryam M MM; Whittemore, Alice S AS
Publication Date: 2018-10-15

Variant appearance in text: rs1805007
PubMed Link: 30323283
Variant Present in the following documents:
  • Main text
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Clinical and Biological Characterization of Skin Pigmentation Diversity and Its Consequences on UV Impact.

International Journal Of Molecular Sciences
Del Bino, Sandra S; Duval, Christine C; Bernerd, Françoise F
Publication Date: 2018-09-08

Variant appearance in text: rs1805007
PubMed Link: 30205563
Variant Present in the following documents:
  • Main text
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Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort.

Journal Of Medical Genetics
Galván-Femenía, Iván I; Obón-Santacana, Mireia M; Piñeyro, David D; Guindo-Martinez, Marta M; Duran, Xavier X; Carreras, Anna A; Pluvinet, Raquel R; Velasco, Juan J; Ramos, Laia L; Aussó, Susanna S; Mercader, J M JM; Puig, Lluis L; Perucho, Manuel M; Torrents, David D; Moreno, Victor V; Sumoy, Lauro L; de Cid, Rafael R
Publication Date: 2018-11

Variant appearance in text: rs1805007
PubMed Link: 30166351
Variant Present in the following documents:
  • Main text
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Pigmentation phototype and prostate and breast cancer in a select Spanish population-A Mendelian randomization analysis in the MCC-Spain study.

Plos One
Gómez-Acebo, Inés I; Dierssen-Sotos, Trinidad T; Palazuelos, Camilo C; Fernández-Navarro, Pablo P; Castaño-Vinyals, Gemma G; Alonso-Molero, Jéssica J; Urtiaga, Carmen C; Fernández-Villa, Tania T; Ardanaz, Eva E; Rivas-Del-Fresno, Manuel M; Molina-Barceló, Ana A; Jiménez-Moleón, José-Juan JJ; García-Martinez, Lidia L; Amiano, Pilar P; Rodriguez-Cundin, Paz P; Moreno, Víctor V; Pérez-Gómez, Beatriz B; Aragonés, Nuria N; Kogevinas, Manolis M; Pollán, Marina M; Llorca, Javier J
Publication Date: 2018

Variant appearance in text: rs1805007
PubMed Link: 30106959
Variant Present in the following documents:
  • Main text
  • pone.0201750.pdf
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Bayesian Network Construction and Genotype-Phenotype Inference Using GWAS Statistics.

Ieee/Acm Transactions On Computational Biology And Bioinformatics
Zhang, Lu L; Pan, Qiuping Q; Wang, Yue Y; Wu, Xintao X; Shi, Xinghua X
Publication Date: 2019

Variant appearance in text: rs1805007
PubMed Link: 29990020
Variant Present in the following documents:
  • Main text
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Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations.

Scientific Reports
Endo, Chihiro C; Johnson, Todd A TA; Morino, Ryoko R; Nakazono, Kazuyuki K; Kamitsuji, Shigeo S; Akita, Masanori M; Kawajiri, Maiko M; Yamasaki, Tatsuya T; Kami, Azusa A; Hoshi, Yuria Y; Tada, Asami A; Ishikawa, Kenichi K; Hine, Maaya M; Kobayashi, Miki M; Kurume, Nami N; Tsunemi, Yuichiro Y; Kamatani, Naoyuki N; Kawashima, Makoto M
Publication Date: 2018-06-12

Variant appearance in text: MC1R: Arg151Gly; rs1805007
PubMed Link: 29895819
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_27145.pdf
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Adaptive Landscape of Protein Variation in Human Exomes.

Molecular Biology And Evolution
Patel, Ravi R; Scheinfeldt, Laura B LB; Sanderford, Maxwell D MD; Lanham, Tamera R TR; Tamura, Koichiro K; Platt, Alexander A; Glicksberg, Benjamin S BS; Xu, Ke K; Dudley, Joel T JT; Kumar, Sudhir S
Publication Date: 2018-08-01

Variant appearance in text: rs1805007
PubMed Link: 29846678
Variant Present in the following documents:
  • Main text
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CDKN2A/CDK4 Status in Greek Patients with Familial Melanoma and Association with Clinico-epidemiological Parameters.

Acta Dermato-Venereologica
Karagianni, Fani F; Njauw, Ching-Ni CN; Kypreou, Katerina P KP; Stergiopoulou, Aravela A; Plaka, Michaela M; Polydorou, Dorothea D; Chasapi, Vasiliki V; Pappas, Leontios L; Stratigos, Ioannis A IA; Champsas, Gregory G; Panagiotou, Peter P; Gogas, Helen H; Evangelou, Evangelos E; Tsao, Hensin H; Stratigos, Alexander J AJ; Stefanaki, Irene I
Publication Date: 2018-10-10

Variant appearance in text: rs1805007
PubMed Link: 29774366
Variant Present in the following documents:
  • Main text
  • nihms-1016697.pdf
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Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.

Nature Genetics
Hysi, Pirro G PG; Valdes, Ana M AM; Liu, Fan F; Furlotte, Nicholas A NA; Evans, David M DM; Bataille, Veronique V; Visconti, Alessia A; Hemani, Gibran G; McMahon, George G; Ring, Susan M SM; Smith, George Davey GD; Duffy, David L DL; Zhu, Gu G; Gordon, Scott D SD; Medland, Sarah E SE; Lin, Bochao D BD; Willemsen, Gonneke G; Jan Hottenga, Jouke J; Vuckovic, Dragana D; Girotto, Giorgia G; Gandin, Ilaria I; Sala, Cinzia C; Concas, Maria Pina MP; Brumat, Marco M; Gasparini, Paolo P; Toniolo, Daniela D; Cocca, Massimiliano M; Robino, Antonietta A; Yazar, Seyhan S; Hewitt, Alex W AW; Chen, Yan Y; Zeng, Changqing C; Uitterlinden, Andre G AG; Ikram, M Arfan MA; Hamer, Merel A MA; van Duijn, Cornelia M CM; Nijsten, Tamar T; Mackey, David A DA; Falchi, Mario M; Boomsma, Dorret I DI; Martin, Nicholas G NG; , ; Hinds, David A DA; Kayser, Manfred M; Spector, Timothy D TD
Publication Date: 2018-05

Variant appearance in text: rs1805007
PubMed Link: 29662168
Variant Present in the following documents:
  • Main text
  • emss-76542.pdf
  • NIHMS76542-supplement-Supplementary_notes_and_tables.pdf
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Associations between sun sensitive pigmentary genes and serum prostate specific antigen levels.

Plos One
Nair-Shalliker, Visalini V; Egger, Sam S; Chrzanowska, Agata A; Mason, Rebecca R; Waite, Louise L; Le Couteur, David D; Seibel, Markus J MJ; Handelsman, David J DJ; Cumming, Robert R; Smith, David P DP; Armstrong, Bruce K BK
Publication Date: 2018

Variant appearance in text: rs1805007
PubMed Link: 29518100
Variant Present in the following documents:
  • Main text
  • pone.0193893.pdf
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Quantifying the Polygenic Contribution to Cutaneous Squamous Cell Carcinoma Risk.

The Journal Of Investigative Dermatology
Sordillo, Joanne E JE; Kraft, Peter P; Wu, Ann Chen AC; Asgari, Maryam M MM
Publication Date: 2018-07

Variant appearance in text: rs1805007
PubMed Link: 29452120
Variant Present in the following documents:
  • Main text
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