MAU2 c.1221+739C>T

Variant ID: 19-19456917-C-T

NM_015329.3(MAU2):c.1221+739C>T

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic variation in TERT modifies the risk of hepatocellular carcinoma in alcohol-related cirrhosis: results from a genome-wide case-control study.

Gut
Buch, Stephan S; Innes, Hamish H; Lutz, Philipp Ludwig PL; Nischalke, Hans Dieter HD; Marquardt, Jens U JU; Fischer, Janett J; Weiss, Karl Heinz KH; Rosendahl, Jonas J; Marot, Astrid A; Krawczyk, Marcin M; Casper, Markus M; Lammert, Frank F; Eyer, Florian F; Vogel, Arndt A; Marhenke, Silke S; von Felden, Johann J; Sharma, Rohini R; Atkinson, Stephen Rahul SR; McQuillin, Andrew A; Nattermann, Jacob J; Schafmayer, Clemens C; Franke, Andre A; Strassburg, Christian C; Rietschel, Marcella M; Altmann, Heidi H; Sulk, Stefan S; Thangapandi, Veera Raghavan VR; Brosch, Mario M; Lackner, Carolin C; Stauber, Rudolf E RE; Canbay, Ali A; Link, Alexander A; Reiberger, Thomas T; Mandorfer, Mattias M; Semmler, Georg G; Scheiner, Bernhard B; Datz, Christian C; Romeo, Stefano S; Ginanni Corradini, Stefano S; Irving, William Lucien WL; Morling, Joanne R JR; Guha, Indra Neil IN; Barnes, Eleanor E; Ansari, M Azim MA; Quistrebert, Jocelyn J; Valenti, Luca L; Müller, Sascha A SA; Morgan, Marsha Yvonne MY; Dufour, Jean-François JF; Trebicka, Jonel J; Berg, Thomas T; Deltenre, Pierre P; Mueller, Sebastian S; Hampe, Jochen J; Stickel, Felix F
Publication Date: 2022-07-04

Variant appearance in text: rs58489806
PubMed Link: 35788059
Variant Present in the following documents:
  • Main text
  • gutjnl-2022-327196.pdf
  • gutjnl-2022-327196supp001.pdf
View BVdb publication page



Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers.

Nature Genetics
Sidore, Carlo C; Busonero, Fabio F; Maschio, Andrea A; Porcu, Eleonora E; Naitza, Silvia S; Zoledziewska, Magdalena M; Mulas, Antonella A; Pistis, Giorgio G; Steri, Maristella M; Danjou, Fabrice F; Kwong, Alan A; Ortega Del Vecchyo, Vicente Diego VD; Chiang, Charleston W K CWK; Bragg-Gresham, Jennifer J; Pitzalis, Maristella M; Nagaraja, Ramaiah R; Tarrier, Brendan B; Brennan, Christine C; Uzzau, Sergio S; Fuchsberger, Christian C; Atzeni, Rossano R; Reinier, Frederic F; Berutti, Riccardo R; Huang, Jie J; Timpson, Nicholas J NJ; Toniolo, Daniela D; Gasparini, Paolo P; Malerba, Giovanni G; Dedoussis, George G; Zeggini, Eleftheria E; Soranzo, Nicole N; Jones, Chris C; Lyons, Robert R; Angius, Andrea A; Kang, Hyun M HM; Novembre, John J; Sanna, Serena S; Schlessinger, David D; Cucca, Francesco F; Abecasis, Gonçalo R GR
Publication Date: 2015-11

Variant appearance in text: rs58489806
PubMed Link: 26366554
Variant Present in the following documents:
  • Main text
  • emss-64133.pdf
View BVdb publication page



Trans-ethnic fine-mapping of lipid loci identifies population-specific signals and allelic heterogeneity that increases the trait variance explained.

Plos Genetics
Wu, Ying Y; Waite, Lindsay L LL; Jackson, Anne U AU; Sheu, Wayne H-H WH; Buyske, Steven S; Absher, Devin D; Arnett, Donna K DK; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Carty, Cara L CL; Cheng, Iona I; Cochran, Barbara B; Croteau-Chonka, Damien C DC; Dumitrescu, Logan L; Eaton, Charles B CB; Franceschini, Nora N; Guo, Xiuqing X; Henderson, Brian E BE; Hindorff, Lucia A LA; Kim, Eric E; Kinnunen, Leena L; Komulainen, Pirjo P; Lee, Wen-Jane WJ; Le Marchand, Loic L; Lin, Yi Y; Lindström, Jaana J; Lingaas-Holmen, Oddgeir O; Mitchell, Sabrina L SL; Narisu, Narisu N; Robinson, Jennifer G JG; Schumacher, Fred F; Stančáková, Alena A; Sundvall, Jouko J; Sung, Yun-Ju YJ; Swift, Amy J AJ; Wang, Wen-Chang WC; Wilkens, Lynne L; Wilsgaard, Tom T; Young, Alicia M AM; Adair, Linda S LS; Ballantyne, Christie M CM; Bůžková, Petra P; Chakravarti, Aravinda A; Collins, Francis S FS; Duggan, David D; Feranil, Alan B AB; Ho, Low-Tone LT; Hung, Yi-Jen YJ; Hunt, Steven C SC; Hveem, Kristian K; Juang, Jyh-Ming J JM; Kesäniemi, Antero Y AY; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lee, I-Te IT; Leppert, Mark F MF; Matise, Tara C TC; Moilanen, Leena L; Njølstad, Inger I; Peters, Ulrike U; Quertermous, Thomas T; Rauramaa, Rainer R; Rotter, Jerome I JI; Saramies, Jouko J; Tuomilehto, Jaakko J; Uusitupa, Matti M; Wang, Tzung-Dau TD; Boehnke, Michael M; Haiman, Christopher A CA; Chen, Yii-Der I YD; Kooperberg, Charles C; Assimes, Themistocles L TL; Crawford, Dana C DC; Hsiung, Chao A CA; North, Kari E KE; Mohlke, Karen L KL
Publication Date: 2013-03

Variant appearance in text: rs58489806
PubMed Link: 23555291
Variant Present in the following documents:
  • pgen.1003379.s009.pdf
View BVdb publication page