HERC2 c.3051-320A>G

Variant ID: 15-28494202-T-C

NM_004667.5(HERC2):c.3051-320A>G

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs2240203
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Population genomic analysis of elongated skulls reveals extensive female-biased immigration in Early Medieval Bavaria.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Veeramah, Krishna R KR; Rott, Andreas A; Groß, Melanie M; van Dorp, Lucy L; López, Saioa S; Kirsanow, Karola K; Sell, Christian C; Blöcher, Jens J; Wegmann, Daniel D; Link, Vivian V; Hofmanová, Zuzana Z; Peters, Joris J; Trautmann, Bernd B; Gairhos, Anja A; Haberstroh, Jochen J; Päffgen, Bernd B; Hellenthal, Garrett G; Haas-Gebhard, Brigitte B; Harbeck, Michaela M; Burger, Joachim J
Publication Date: 2018-03-27

Variant appearance in text: rs2240203
PubMed Link: 29531040
Variant Present in the following documents:
  • pnas.1719880115.sapp.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: rs2240203
PubMed Link: 29315301
Variant Present in the following documents:
  • pbio.2003703.s013.pdf
  • pbio.2003703.s001.xlsx, sheet 1
View BVdb publication page



A Common Genetic Origin for Early Farmers from Mediterranean Cardial and Central European LBK Cultures.

Molecular Biology And Evolution
Olalde, Iñigo I; Schroeder, Hannes H; Sandoval-Velasco, Marcela M; Vinner, Lasse L; Lobón, Irene I; Ramirez, Oscar O; Civit, Sergi S; García Borja, Pablo P; Salazar-García, Domingo C DC; Talamo, Sahra S; María Fullola, Josep J; Xavier Oms, Francesc F; Pedro, Mireia M; Martínez, Pablo P; Sanz, Montserrat M; Daura, Joan J; Zilhão, João J; Marquès-Bonet, Tomàs T; Gilbert, M Thomas P MT; Lalueza-Fox, Carles C
Publication Date: 2015-12

Variant appearance in text: rs2240203
PubMed Link: 26337550
Variant Present in the following documents:
  • supp_msv181_cardial_supplementary_MBE_submission.pdf
View BVdb publication page



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: rs2240203
PubMed Link: 25230663
Variant Present in the following documents:
  • NIHMS613260-supplement-supplement_1.pdf
View BVdb publication page



The CCND1 c.870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma.

Nature Genetics
Weinhold, Niels N; Johnson, David C DC; Chubb, Daniel D; Chen, Bowang B; Försti, Asta A; Hosking, Fay J FJ; Broderick, Peter P; Ma, Yussanne P YP; Dobbins, Sara E SE; Hose, Dirk D; Walker, Brian A BA; Davies, Faith E FE; Kaiser, Martin F MF; Li, Ni L NL; Gregory, Walter A WA; Jackson, Graham H GH; Witzens-Harig, Mathias M; Neben, Kai K; Hoffmann, Per P; Nöthen, Markus M MM; Mühleisen, Thomas W TW; Eisele, Lewin L; Ross, Fiona M FM; Jauch, Anna A; Goldschmidt, Hartmut H; Houlston, Richard S RS; Morgan, Gareth J GJ; Hemminki, Kari K
Publication Date: 2013-05

Variant appearance in text: rs2240203
PubMed Link: 23502783
Variant Present in the following documents:
  • NIHMS53125-supplement-1.pdf
View BVdb publication page