MC1R c.274G>C ;(p.V92L)

Variant ID: 16-89985940-G-C

NM_002386.3(MC1R):c.274G>C;(p.V92L)

This variant was identified in 49 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: rs2228479
PubMed Link: 37239480
Variant Present in the following documents:
  • genes-14-01120.pdf
View BVdb publication page



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: rs2228479
PubMed Link: 36707655
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_28774.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: rs2228479
PubMed Link: 36582804
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Establishment and validation of visual assessment for the severity of lacrimal groove wrinkles in Chinese females.

Skin Research And Technology : Official Journal Of International Society For Bioengineering And The Skin (Isbs) [And] International Society For Digital Imaging Of Skin (Isdis) [And] International Society For Skin Imaging (Issi)
Tan, Yimei Y; Amano, Satoshi S; Jiang, Yanwen Y; Chen, Yifan Y; Qiu, Yuchen Y; Gu, Jie J; Bao, Jingling J
Publication Date: 2022-11-29

Variant appearance in text: rs2228479
PubMed Link: 36448212
Variant Present in the following documents:
  • Main text
  • SRT-29-e13244.pdf
View BVdb publication page



Implication of Melanocortin Receptor Genes in the Familial Comorbidity of Type 2 Diabetes and Depression.

International Journal Of Molecular Sciences
Amin, Mutaz M; Ott, Jurg J; Wu, Rongling R; Postolache, Teodor T TT; Gragnoli, Claudia C
Publication Date: 2022-07-28

Variant appearance in text: rs2228479
PubMed Link: 35955479
Variant Present in the following documents:
  • Main text
View BVdb publication page



Population Genetics and Signatures of Selection in Early Neolithic European Farmers.

Molecular Biology And Evolution
Childebayeva, Ainash A; Rohrlach, Adam Benjamin AB; Barquera, Rodrigo R; Rivollat, Maïté M; Aron, Franziska F; Szolek, András A; Kohlbacher, Oliver O; Nicklisch, Nicole N; Alt, Kurt W KW; Gronenborn, Detlef D; Meller, Harald H; Friederich, Susanne S; Prüfer, Kay K; Deguilloux, Marie-France MF; Krause, Johannes J; Haak, Wolfgang W
Publication Date: 2022-06-02

Variant appearance in text: rs2228479
PubMed Link: 35578825
Variant Present in the following documents:
  • Main text
  • msac108.pdf
View BVdb publication page



Evaluation of mild cognitive impairment genetic susceptibility risks in a Chinese population.

Bmc Psychiatry
Zhang, Yelei Y; Li, Xiaoyue X; Hu, Yu Y; Yuan, Hongwei H; Wu, Xiaodong X; Yang, Yating Y; Zhao, Tongtong T; Hu, Ke K; Wang, Zhiqiang Z; Wang, Guoqiang G; Zhang, Kai K; Liu, Huanzhong H
Publication Date: 2022-02-08

Variant appearance in text: rs2228479
PubMed Link: 35135506
Variant Present in the following documents:
  • Main text
  • 12888_2022_Article_3756.pdf
View BVdb publication page



Evaluation of mild cognitive impairment genetic susceptibility risks in a Chinese population.

Bmc Psychiatry
Zhang, Yelei Y; Li, Xiaoyue X; Hu, Yu Y; Yuan, Hongwei H; Wu, Xiaodong X; Yang, Yating Y; Zhao, Tongtong T; Hu, Ke K; Wang, Zhiqiang Z; Wang, Guoqiang G; Zhang, Kai K; Liu, Huanzhong H
Publication Date: 2022-02-08

Variant appearance in text: rs2228479
PubMed Link: 35135506
Variant Present in the following documents:
  • Main text
  • 12888_2022_Article_3756.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: rs2228479
PubMed Link: 34737440
Variant Present in the following documents:
  • Main text
  • 42003_2021_Article_2764.pdf
View BVdb publication page



Association of Gene Polymorphisms in APOE and BIN1 With Dementia of Alzheimer's Type Susceptibility in Chinese Han Population.

Frontiers In Psychiatry
Li, Xiaoyue X; Zhang, Yelei Y; Chen, Xinyu X; Yuan, Hongwei H; Wang, Zhiqiang Z; Wang, Guoqiang G; Zhang, Kai K; Liu, Huanzhong H
Publication Date: 2021

Variant appearance in text: rs2228479
PubMed Link: 34733192
Variant Present in the following documents:
  • Main text
View BVdb publication page



MC1R Is a Prognostic Marker and Its Expression Is Correlated with MSI in Colorectal Cancer.

Current Issues In Molecular Biology
Peng, Lixiong L; Chang, Jiang J; Liu, Xilin X; Lu, Shiying S; Ren, Honglin H; Zhou, Xiaoshi X; Liu, Zengshan Z; Hu, Pan P
Publication Date: 2021-10-11

Variant appearance in text: rs2228479
PubMed Link: 34698109
Variant Present in the following documents:
  • Main text
  • cimb-43-00108.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: rs2228479
PubMed Link: 34573344
Variant Present in the following documents:
  • genes-12-01362.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: rs2228479
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: rs2228479
PubMed Link: 34326492
Variant Present in the following documents:
  • NIHMS1754145-supplement-Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Association Analysis of Polymorphisms in BIN1, MC1R, STARD6 and PVRL2 with Mild Cognitive Impairment in Elderly Carrying APOE ε4 Allele.

Neuropsychiatric Disease And Treatment
Wu, Yue Y; Yin, Jiajun J; Yang, Bixiu B; Tang, Li L; Feng, Wei W; Liu, Xiaowei X; Zhao, Xingfu X; Cheng, Zaohuo Z
Publication Date: 2021

Variant appearance in text: rs2228479
PubMed Link: 33907405
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: rs2228479
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: rs2228479
PubMed Link: 33495209
Variant Present in the following documents:
  • Main text
  • biolopen-10-056523.pdf
View BVdb publication page



Sunlight exposure exerts immunomodulatory effects to reduce multiple sclerosis severity.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Ostkamp, Patrick P; Salmen, Anke A; Pignolet, Béatrice B; Görlich, Dennis D; Andlauer, Till F M TFM; Schulte-Mecklenbeck, Andreas A; Gonzalez-Escamilla, Gabriel G; Bucciarelli, Florence F; Gennero, Isabelle I; Breuer, Johanna J; Antony, Gisela G; Schneider-Hohendorf, Tilman T; Mykicki, Nadine N; Bayas, Antonios A; Then Bergh, Florian F; Bittner, Stefan S; Hartung, Hans-Peter HP; Friese, Manuel A MA; Linker, Ralf A RA; Luessi, Felix F; Lehmann-Horn, Klaus K; Mühlau, Mark M; Paul, Friedemann F; Stangel, Martin M; Tackenberg, Björn B; Tumani, Hayrettin H; Warnke, Clemens C; Weber, Frank F; Wildemann, Brigitte B; Zettl, Uwe K UK; Ziemann, Ulf U; Müller-Myhsok, Bertram B; Kümpfel, Tania T; Klotz, Luisa L; Meuth, Sven G SG; Zipp, Frauke F; Hemmer, Bernhard B; Hohlfeld, Reinhard R; Brassat, David D; Gold, Ralf R; Gross, Catharina C CC; Lukas, Carsten C; Groppa, Sergiu S; Loser, Karin K; Wiendl, Heinz H; Schwab, Nicholas N; ,
Publication Date: 2021-01-05

Variant appearance in text: rs2228479
PubMed Link: 33376202
Variant Present in the following documents:
  • Main text
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: rs2228479
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: rs2228479
PubMed Link: 32758128
Variant Present in the following documents:
  • 12864_2020_6926_MOESM1_ESM.pdf
View BVdb publication page



Ancient genomes from northern China suggest links between subsistence changes and human migration.

Nature Communications
Ning, Chao C; Li, Tianjiao T; Wang, Ke K; Zhang, Fan F; Li, Tao T; Wu, Xiyan X; Gao, Shizhu S; Zhang, Quanchao Q; Zhang, Hai H; Hudson, Mark J MJ; Dong, Guanghui G; Wu, Sihao S; Fang, Yanming Y; Liu, Chen C; Feng, Chunyan C; Li, Wei W; Han, Tao T; Li, Ruo R; Wei, Jian J; Zhu, Yonggang Y; Zhou, Yawei Y; Wang, Chuan-Chao CC; Fan, Shengying S; Xiong, Zenglong Z; Sun, Zhouyong Z; Ye, Maolin M; Sun, Lei L; Wu, Xiaohong X; Liang, Fawei F; Cao, Yanpeng Y; Wei, Xingtao X; Zhu, Hong H; Zhou, Hui H; Krause, Johannes J; Robbeets, Martine M; Jeong, Choongwon C; Cui, Yinqiu Y
Publication Date: 2020-06-01

Variant appearance in text: rs2228479
PubMed Link: 32483115
Variant Present in the following documents:
  • 41467_2020_16557_MOESM1_ESM.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: rs2228479
PubMed Link: 32303690
Variant Present in the following documents:
  • 41598_2020_63138_MOESM2_ESM.xlsx, sheet 11
  • 41598_2020_63138_MOESM2_ESM.xlsx, sheet 12
View BVdb publication page



Analysis of the Deleterious Single-Nucleotide Polymorphisms Associated With Antidepressant Efficacy in Major Depressive Disorder.

Frontiers In Psychiatry
Xin, Juncai J; Yuan, Meng M; Peng, Yonglin Y; Wang, Ju J
Publication Date: 2020

Variant appearance in text: rs2228479
PubMed Link: 32256400
Variant Present in the following documents:
  • Main text
  • fpsyt-11-00151.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: rs2228479
PubMed Link: 31834199
Variant Present in the following documents:
  • Main text
View BVdb publication page



Bronze Age population dynamics and the rise of dairy pastoralism on the eastern Eurasian steppe.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Jeong, Choongwon C; Wilkin, Shevan S; Amgalantugs, Tsend T; Bouwman, Abigail S AS; Taylor, William Timothy Treal WTT; Hagan, Richard W RW; Bromage, Sabri S; Tsolmon, Soninkhishig S; Trachsel, Christian C; Grossmann, Jonas J; Littleton, Judith J; Makarewicz, Cheryl A CA; Krigbaum, John J; Burri, Marta M; Scott, Ashley A; Davaasambuu, Ganmaa G; Wright, Joshua J; Irmer, Franziska F; Myagmar, Erdene E; Boivin, Nicole N; Robbeets, Martine M; Rühli, Frank J FJ; Krause, Johannes J; Frohlich, Bruno B; Hendy, Jessica J; Warinner, Christina C
Publication Date: 2018-11-27

Variant appearance in text: rs2228479
PubMed Link: 30397125
Variant Present in the following documents:
  • pnas.1813608115.sapp.pdf
View BVdb publication page



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: rs2228479
PubMed Link: 30205563
Variant Present in the following documents:
  • Main text
  • ijms-19-02668.pdf
View BVdb publication page



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: rs2228479
PubMed Link: 29774366
Variant Present in the following documents:
  • Main text
  • nihms-1016697.pdf
View BVdb publication page



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: rs2228479
PubMed Link: 29662168
Variant Present in the following documents:
  • NIHMS76542-supplement-Supplementary_notes_and_tables.pdf
View BVdb publication page



Population genomics of Mesolithic Scandinavia: Investigating early postglacial migration routes and high-latitude adaptation.

Plos Biology
Günther, Torsten T; Malmström, Helena H; Svensson, Emma M EM; Omrak, Ayça A; Sánchez-Quinto, Federico F; Kılınç, Gülşah M GM; Krzewińska, Maja M; Eriksson, Gunilla G; Fraser, Magdalena M; Edlund, Hanna H; Munters, Arielle R AR; Coutinho, Alexandra A; Simões, Luciana G LG; Vicente, Mário M; Sjölander, Anders A; Jansen Sellevold, Berit B; Jørgensen, Roger R; Claes, Peter P; Shriver, Mark D MD; Valdiosera, Cristina C; Netea, Mihai G MG; Apel, Jan J; Lidén, Kerstin K; Skar, Birgitte B; Storå, Jan J; Götherström, Anders A; Jakobsson, Mattias M
Publication Date: 2018-01

Variant appearance in text: rs2228479
PubMed Link: 29315301
Variant Present in the following documents:
  • pbio.2003703.s001.xlsx, sheet 1
View BVdb publication page



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

Scientific Reports
Neumann, Alexander A; Noppe, Gerard G; Liu, Fan F; Kayser, Manfred M; Verhulst, Frank C FC; Jaddoe, Vincent W V VWV; van Rossum, Elisabeth F C EFC; Tiemeier, Henning H
Publication Date: 2017-08-17

Variant appearance in text: rs2228479
PubMed Link: 28819144
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adaptation of human skin color in various populations.

Hereditas
Deng, Lian L; Xu, Shuhua S
Publication Date: 2018

Variant appearance in text: rs2228479
PubMed Link: 28701907
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2228479
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Global skin colour prediction from DNA.

Human Genetics
Walsh, Susan S; Chaitanya, Lakshmi L; Breslin, Krystal K; Muralidharan, Charanya C; Bronikowska, Agnieszka A; Pospiech, Ewelina E; Koller, Julia J; Kovatsi, Leda L; Wollstein, Andreas A; Branicki, Wojciech W; Liu, Fan F; Kayser, Manfred M
Publication Date: 2017-07

Variant appearance in text: rs2228479
PubMed Link: 28500464
Variant Present in the following documents:
  • Main text
  • 439_2017_Article_1808.pdf
View BVdb publication page



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

Plos One
Haeusler, Martin M; Haas, Cordula C; Lösch, Sandra S; Moghaddam, Negahnaz N; Villa, Igor M IM; Walsh, Susan S; Kayser, Manfred M; Seiler, Roger R; Ruehli, Frank F; Janosa, Manuel M; Papageorgopoulou, Christina C
Publication Date: 2016

Variant appearance in text: rs2228479
PubMed Link: 28030571
Variant Present in the following documents:
  • Main text
  • pone.0168014.pdf
View BVdb publication page



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

Bmc Genomics
Ambers, Angie D AD; Churchill, Jennifer D JD; King, Jonathan L JL; Stoljarova, Monika M; Gill-King, Harrell H; Assidi, Mourad M; Abu-Elmagd, Muhammad M; Buhmeida, Abdelbaset A; Al-Qahtani, Mohammed M; Budowle, Bruce B
Publication Date: 2016-10-17

Variant appearance in text: rs2228479
PubMed Link: 27766958
Variant Present in the following documents:
  • Main text
  • 12864_2016_3087_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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

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

Variant appearance in text: rs2228479
PubMed Link: 27502179
Variant Present in the following documents:
  • srep31326-s1.pdf
View BVdb publication page



The Effects of Sequence Variation on Genome-wide NRF2 Binding--New Target Genes and Regulatory SNPs.

Nucleic Acids Research
Kuosmanen, Suvi M SM; Viitala, Sari S; Laitinen, Tuomo T; Peräkylä, Mikael M; Pölönen, Petri P; Kansanen, Emilia E; Leinonen, Hanna H; Raju, Suresh S; Wienecke-Baldacchino, Anke A; Närvänen, Ale A; Poso, Antti A; Heinäniemi, Merja M; Heikkinen, Sami S; Levonen, Anna-Liisa AL
Publication Date: 2016-02-29

Variant appearance in text: rs2228479
PubMed Link: 26826707
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs2228479
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Upper Palaeolithic genomes reveal deep roots of modern Eurasians.

Nature Communications
Jones, Eppie R ER; Gonzalez-Fortes, Gloria G; Connell, Sarah S; Siska, Veronika V; Eriksson, Anders A; Martiniano, Rui R; McLaughlin, Russell L RL; Gallego Llorente, Marcos M; Cassidy, Lara M LM; Gamba, Cristina C; Meshveliani, Tengiz T; Bar-Yosef, Ofer O; Müller, Werner W; Belfer-Cohen, Anna A; Matskevich, Zinovi Z; Jakeli, Nino N; Higham, Thomas F G TFG; Currat, Mathias M; Lordkipanidze, David D; Hofreiter, Michael M; Manica, Andrea A; Pinhasi, Ron R; Bradley, Daniel G DG
Publication Date: 2015-11-16

Variant appearance in text: rs2228479
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
Corpas, Manuel M; Valdivia-Granda, Willy W; Torres, Nazareth N; Greshake, Bastian B; Coletta, Alain A; Knaus, Alexej A; Harrison, Andrew P AP; Cariaso, Mike M; Moran, Federico F; Nielsen, Fiona F; Swan, Daniel D; Weiss Solís, David Y DY; Krawitz, Peter P; Schacherer, Frank F; Schols, Peter P; Yang, Huangming H; Borry, Pascal P; Glusman, Gustavo G; Robinson, Peter N PN
Publication Date: 2015-11-07

Variant appearance in text: rs2228479
PubMed Link: 26547235
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Human Genetics
Liu, Fan F; Visser, Mijke M; Duffy, David L DL; Hysi, Pirro G PG; Jacobs, Leonie C LC; Lao, Oscar O; Zhong, Kaiyin K; Walsh, Susan S; Chaitanya, Lakshmi L; Wollstein, Andreas A; Zhu, Gu G; Montgomery, Grant W GW; Henders, Anjali K AK; Mangino, Massimo M; Glass, Daniel D; Bataille, Veronique V; Sturm, Richard A RA; Rivadeneira, Fernando F; Hofman, Albert A; van IJcken, Wilfred F J WF; Uitterlinden, André G AG; Palstra, Robert-Jan T S RJ; Spector, Timothy D TD; Martin, Nicholas G NG; Nijsten, Tamar E C TE; Kayser, Manfred M
Publication Date: 2015-08

Variant appearance in text: rs2228479
PubMed Link: 25963972
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants of SCARB1 and VDR Involved in Complex Genetic Interactions May Be Implicated in the Genetic Susceptibility to Clear Cell Renal Cell Carcinoma.

Biomed Research International
Pośpiech, Ewelina E; Ligęza, Janusz J; Wilk, Wacław W; Gołas, Aniela A; Jaszczyński, Janusz J; Stelmach, Andrzej A; Ryś, Janusz J; Blecharczyk, Aleksandra A; Wojas-Pelc, Anna A; Jura, Jolanta J; Branicki, Wojciech W
Publication Date: 2015

Variant appearance in text: rs2228479
PubMed Link: 25945350
Variant Present in the following documents:
  • Main text
  • 860405.f1.pdf
  • BMRI2015-860405.pdf
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Genome flux and stasis in a five millennium transect of European prehistory.

Nature Communications
Gamba, Cristina C; Jones, Eppie R ER; Teasdale, Matthew D MD; McLaughlin, Russell L RL; Gonzalez-Fortes, Gloria G; Mattiangeli, Valeria V; Domboróczki, László L; Kővári, Ivett I; Pap, Ildikó I; Anders, Alexandra A; Whittle, Alasdair A; Dani, János J; Raczky, Pál P; Higham, Thomas F G TF; Hofreiter, Michael M; Bradley, Daniel G DG; Pinhasi, Ron R
Publication Date: 2014-10-21

Variant appearance in text: rs2228479
PubMed Link: 25334030
Variant Present in the following documents:
  • ncomms6257-s1.pdf
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Ancient human genomes suggest three ancestral populations for present-day Europeans.

Nature
Lazaridis, Iosif I; Patterson, Nick N; Mittnik, Alissa A; Renaud, Gabriel G; Mallick, Swapan S; Kirsanow, Karola K; Sudmant, Peter H PH; Schraiber, Joshua G JG; Castellano, Sergi S; Lipson, Mark M; Berger, Bonnie B; Economou, Christos C; Bollongino, Ruth R; Fu, Qiaomei Q; Bos, Kirsten I KI; Nordenfelt, Susanne S; Li, Heng H; de Filippo, Cesare C; Prüfer, Kay K; Sawyer, Susanna S; Posth, Cosimo C; Haak, Wolfgang W; Hallgren, Fredrik F; Fornander, Elin E; Rohland, Nadin N; Delsate, Dominique D; Francken, Michael M; Guinet, Jean-Michel JM; Wahl, Joachim J; Ayodo, George G; Babiker, Hamza A HA; Bailliet, Graciela G; Balanovska, Elena E; Balanovsky, Oleg O; Barrantes, Ramiro R; Bedoya, Gabriel G; Ben-Ami, Haim H; Bene, Judit J; Berrada, Fouad F; Bravi, Claudio M CM; Brisighelli, Francesca F; Busby, George B J GB; Cali, Francesco F; Churnosov, Mikhail M; Cole, David E C DE; Corach, Daniel D; Damba, Larissa L; van Driem, George G; Dryomov, Stanislav S; Dugoujon, Jean-Michel JM; Fedorova, Sardana A SA; Gallego Romero, Irene I; Gubina, Marina M; Hammer, Michael M; Henn, Brenna M BM; Hervig, Tor T; Hodoglugil, Ugur U; Jha, Aashish R AR; Karachanak-Yankova, Sena S; Khusainova, Rita R; Khusnutdinova, Elza E; Kittles, Rick R; Kivisild, Toomas T; Klitz, William W; Kučinskas, Vaidutis V; Kushniarevich, Alena A; Laredj, Leila L; Litvinov, Sergey S; Loukidis, Theologos T; Mahley, Robert W RW; Melegh, Béla B; Metspalu, Ene E; Molina, Julio J; Mountain, Joanna J; Näkkäläjärvi, Klemetti K; Nesheva, Desislava D; Nyambo, Thomas T; Osipova, Ludmila L; Parik, Jüri J; Platonov, Fedor F; Posukh, Olga O; Romano, Valentino V; Rothhammer, Francisco F; Rudan, Igor I; Ruizbakiev, Ruslan R; Sahakyan, Hovhannes H; Sajantila, Antti A; Salas, Antonio A; Starikovskaya, Elena B EB; Tarekegn, Ayele A; Toncheva, Draga D; Turdikulova, Shahlo S; Uktveryte, Ingrida I; Utevska, Olga O; Vasquez, René R; Villena, Mercedes M; Voevoda, Mikhail M; Winkler, Cheryl A CA; Yepiskoposyan, Levon L; Zalloua, Pierre P; Zemunik, Tatijana T; Cooper, Alan A; Capelli, Cristian C; Thomas, Mark G MG; Ruiz-Linares, Andres A; Tishkoff, Sarah A SA; Singh, Lalji L; Thangaraj, Kumarasamy K; Villems, Richard R; Comas, David D; Sukernik, Rem R; Metspalu, Mait M; Meyer, Matthias M; Eichler, Evan E EE; Burger, Joachim J; Slatkin, Montgomery M; Pääbo, Svante S; Kelso, Janet J; Reich, David D; Krause, Johannes J
Publication Date: 2014-09-18

Variant appearance in text: rs2228479
PubMed Link: 25230663
Variant Present in the following documents:
  • NIHMS613260-supplement-supplement_1.pdf
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Allelic frequencies of 20 visible phenotype variants in the korean population.

Genomics & Informatics
Lim, Ji Eun JE; Oh, Bermseok B
Publication Date: 2013-06

Variant appearance in text: rs2228479
PubMed Link: 23843775
Variant Present in the following documents:
  • Main text
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Bona fide colour: DNA prediction of human eye and hair colour from ancient and contemporary skeletal remains.

Investigative Genetics
Draus-Barini, Jolanta J; Walsh, Susan S; Pośpiech, Ewelina E; Kupiec, Tomasz T; Głąb, Henryk H; Branicki, Wojciech W; Kayser, Manfred M
Publication Date: 2013-01-14

Variant appearance in text: rs2228479
PubMed Link: 23317428
Variant Present in the following documents:
  • Main text
  • 2041-2223-4-3.pdf
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Variability of the mc1r gene in melanic and non-melanic Podarcis lilfordi and Podarcis pityusensis from the Balearic archipelago.

Plos One
Buades, Joana M JM; Rodríguez, Virginia V; Terrasa, Bàrbara B; Pérez-Mellado, Valentin V; Brown, Richard P RP; Castro, Jose A JA; Picornell, Antònia A; Ramon, M M MM
Publication Date: 2013

Variant appearance in text: N/A
PubMed Link: 23308144
Variant Present in the following documents:
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Evaluation of genetic markers as instruments for Mendelian randomization studies on vitamin D.

Plos One
Berry, Diane J DJ; Vimaleswaran, Karani S KS; Whittaker, John C JC; Hingorani, Aroon D AD; Hyppönen, Elina E
Publication Date: 2012

Variant appearance in text: rs2228479
PubMed Link: 22629401
Variant Present in the following documents:
  • Main text
  • pone.0037465.pdf
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Model-based prediction of human hair color using DNA variants.

Human Genetics
Branicki, Wojciech W; Liu, Fan F; van Duijn, Kate K; Draus-Barini, Jolanta J; Pośpiech, Ewelina E; Walsh, Susan S; Kupiec, Tomasz T; Wojas-Pelc, Anna A; Kayser, Manfred M
Publication Date: 2011-04

Variant appearance in text: rs2228479
PubMed Link: 21197618
Variant Present in the following documents:
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Predicting phenotype from genotype: normal pigmentation.

Journal Of Forensic Sciences
Valenzuela, Robert K RK; Henderson, Miquia S MS; Walsh, Monica H MH; Garrison, Nanibaa' A NA; Kelch, Jessica T JT; Cohen-Barak, Orit O; Erickson, Drew T DT; John Meaney, F F; Bruce Walsh, J J; Cheng, Keith C KC; Ito, Shosuke S; Wakamatsu, Kazumasa K; Frudakis, Tony T; Thomas, Matthew M; Brilliant, Murray H MH
Publication Date: 2010-03-01

Variant appearance in text: rs2228479
PubMed Link: 20158590
Variant Present in the following documents:
  • Main text
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Lower rate of genomic variation identified in the trans-membrane domain of monoamine sub-class of Human G-Protein Coupled Receptors: the Human GPCR-DB Database.

Bmc Genomics
Wahlestedt, Claes C; Brookes, Anthony J AJ; Mottagui-Tabar, Salim S
Publication Date: 2004-12-04

Variant appearance in text: rs2228479
PubMed Link: 15579207
Variant Present in the following documents:
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