CCK c.214+1835C>T

Variant ID: 3-42303074-G-A

NM_000729.4(CCK):c.214+1835C>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs4377469
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study.

Frontiers In Genetics
de Toro-Martín, Juan J; Guénard, Frédéric F; Bouchard, Claude C; Tremblay, Angelo A; Pérusse, Louis L; Vohl, Marie-Claude MC
Publication Date: 2019

Variant appearance in text: rs4377469
PubMed Link: 31649740
Variant Present in the following documents:
  • DataSheet_1.pdf
View BVdb publication page



Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

Plos Genetics
Graff, Mariaelisa M; Scott, Robert A RA; Justice, Anne E AE; Young, Kristin L KL; Feitosa, Mary F MF; Barata, Llilda L; Winkler, Thomas W TW; Chu, Audrey Y AY; Mahajan, Anubha A; Hadley, David D; Xue, Luting L; Workalemahu, Tsegaselassie T; Heard-Costa, Nancy L NL; den Hoed, Marcel M; Ahluwalia, Tarunveer S TS; Qi, Qibin Q; Ngwa, Julius S JS; Renström, Frida F; Quaye, Lydia L; Eicher, John D JD; Hayes, James E JE; Cornelis, Marilyn M; Kutalik, Zoltan Z; Lim, Elise E; Luan, Jian'an J; Huffman, Jennifer E JE; Zhang, Weihua W; Zhao, Wei W; Griffin, Paula J PJ; Haller, Toomas T; Ahmad, Shafqat S; Marques-Vidal, Pedro M PM; Bien, Stephanie S; Yengo, Loic L; Teumer, Alexander A; Smith, Albert Vernon AV; Kumari, Meena M; Harder, Marie Neergaard MN; Justesen, Johanne Marie JM; Kleber, Marcus E ME; Hollensted, Mette M; Lohman, Kurt K; Rivera, Natalia V NV; Whitfield, John B JB; Zhao, Jing Hua JH; Stringham, Heather M HM; Lyytikäinen, Leo-Pekka LP; Huppertz, Charlotte C; Willemsen, Gonneke G; Peyrot, Wouter J WJ; Wu, Ying Y; Kristiansson, Kati K; Demirkan, Ayse A; Fornage, Myriam M; Hassinen, Maija M; Bielak, Lawrence F LF; Cadby, Gemma G; Tanaka, Toshiko T; Mägi, Reedik R; van der Most, Peter J PJ; Jackson, Anne U AU; Bragg-Gresham, Jennifer L JL; Vitart, Veronique V; Marten, Jonathan J; Navarro, Pau P; Bellis, Claire C; Pasko, Dorota D; Johansson, Åsa Å; Snitker, Søren S; Cheng, Yu-Ching YC; Eriksson, Joel J; Lim, Unhee U; Aadahl, Mette M; Adair, Linda S LS; Amin, Najaf N; Balkau, Beverley B; Auvinen, Juha J; Beilby, John J; Bergman, Richard N RN; Bergmann, Sven S; Bertoni, Alain G AG; Blangero, John J; Bonnefond, Amélie A; Bonnycastle, Lori L LL; Borja, Judith B JB; Brage, Søren S; Busonero, Fabio F; Buyske, Steve S; Campbell, Harry H; Chines, Peter S PS; Collins, Francis S FS; Corre, Tanguy T; Smith, George Davey GD; Delgado, Graciela E GE; Dueker, Nicole N; Dörr, Marcus M; Ebeling, Tapani T; Eiriksdottir, Gudny G; Esko, Tõnu T; Faul, Jessica D JD; Fu, Mao M; Færch, Kristine K; Gieger, Christian C; Gläser, Sven S; Gong, Jian J; Gordon-Larsen, Penny P; Grallert, Harald H; Grammer, Tanja B TB; Grarup, Niels N; van Grootheest, Gerard G; Harald, Kennet K; Hastie, Nicholas D ND; Havulinna, Aki S AS; Hernandez, Dena D; Hindorff, Lucia L; Hocking, Lynne J LJ; Holmens, Oddgeir L OL; Holzapfel, Christina C; Hottenga, Jouke Jan JJ; Huang, Jie J; Huang, Tao T; Hui, Jennie J; Huth, Cornelia C; Hutri-Kähönen, Nina N; James, Alan L AL; Jansson, John-Olov JO; Jhun, Min A MA; Juonala, Markus M; Kinnunen, Leena L; Koistinen, Heikki A HA; Kolcic, Ivana I; Komulainen, Pirjo P; Kuusisto, Johanna J; Kvaløy, Kirsti K; Kähönen, Mika M; Lakka, Timo A TA; Launer, Lenore J LJ; Lehne, Benjamin B; Lindgren, Cecilia M CM; Lorentzon, Mattias M; Luben, Robert R; Marre, Michel M; Milaneschi, Yuri Y; Monda, Keri L KL; Montgomery, Grant W GW; De Moor, Marleen H M MHM; Mulas, Antonella A; Müller-Nurasyid, Martina M; Musk, A W AW; Männikkö, Reija R; Männistö, Satu S; Narisu, Narisu N; Nauck, Matthias M; Nettleton, Jennifer A JA; Nolte, Ilja M IM; Oldehinkel, Albertine J AJ; Olden, Matthias M; Ong, Ken K KK; Padmanabhan, Sandosh S; Paternoster, Lavinia L; Perez, Jeremiah J; Perola, Markus M; Peters, Annette A; Peters, Ulrike U; Peyser, Patricia A PA; Prokopenko, Inga I; Puolijoki, Hannu H; Raitakari, Olli T OT; Rankinen, Tuomo T; Rasmussen-Torvik, Laura J LJ; Rawal, Rajesh R; Ridker, Paul M PM; Rose, Lynda M LM; Rudan, Igor I; Sarti, Cinzia C; Sarzynski, Mark A MA; Savonen, Kai K; Scott, William R WR; Sanna, Serena S; Shuldiner, Alan R AR; Sidney, Steve S; Silbernagel, Günther G; Smith, Blair H BH; Smith, Jennifer A JA; Snieder, Harold H; Stančáková, Alena A; Sternfeld, Barbara B; Swift, Amy J AJ; Tammelin, Tuija T; Tan, Sian-Tsung ST; Thorand, Barbara B; Thuillier, Dorothée D; Vandenput, Liesbeth L; Vestergaard, Henrik H; van Vliet-Ostaptchouk, Jana V JV; Vohl, Marie-Claude MC; Völker, Uwe U; Waeber, Gérard G; Walker, Mark M; Wild, Sarah S; Wong, Andrew A; Wright, Alan F AF; Zillikens, M Carola MC; Zubair, Niha N; Haiman, Christopher A CA; Lemarchand, Loic L; Gyllensten, Ulf U; Ohlsson, Claes C; Hofman, Albert A; Rivadeneira, Fernando F; Uitterlinden, André G AG; Pérusse, Louis L; Wilson, James F JF; Hayward, Caroline C; Polasek, Ozren O; Cucca, Francesco F; Hveem, Kristian K; Hartman, Catharina A CA; Tönjes, Anke A; Bandinelli, Stefania S; Palmer, Lyle J LJ; Kardia, Sharon L R SLR; Rauramaa, Rainer R; Sørensen, Thorkild I A TIA; Tuomilehto, Jaakko J; Salomaa, Veikko V; Penninx, Brenda W J H BWJH; de Geus, Eco J C EJC; Boomsma, Dorret I DI; Lehtimäki, Terho T; Mangino, Massimo M; Laakso, Markku M; Bouchard, Claude C; Martin, Nicholas G NG; Kuh, Diana D; Liu, Yongmei Y; Linneberg, Allan A; März, Winfried W; Strauch, Konstantin K; Kivimäki, Mika M; Harris, Tamara B TB; Gudnason, Vilmundur V; Völzke, Henry H; Qi, Lu L; Järvelin, Marjo-Riitta MR; Chambers, John C JC; Kooner, Jaspal S JS; Froguel, Philippe P; Kooperberg, Charles C; Vollenweider, Peter P; Hallmans, Göran G; Hansen, Torben T; Pedersen, Oluf O; Metspalu, Andres A; Wareham, Nicholas J NJ; Langenberg, Claudia C; Weir, David R DR; Porteous, David J DJ; Boerwinkle, Eric E; Chasman, Daniel I DI; , ; , ; , ; Abecasis, Gonçalo R GR; Barroso, Inês I; McCarthy, Mark I MI; Frayling, Timothy M TM; O'Connell, Jeffrey R JR; van Duijn, Cornelia M CM; Boehnke, Michael M; Heid, Iris M IM; Mohlke, Karen L KL; Strachan, David P DP; Fox, Caroline S CS; Liu, Ching-Ti CT; Hirschhorn, Joel N JN; Klein, Robert J RJ; Johnson, Andrew D AD; Borecki, Ingrid B IB; Franks, Paul W PW; North, Kari E KE; Cupples, L Adrienne LA; Loos, Ruth J F RJF; Kilpeläinen, Tuomas O TO
Publication Date: 2017-04

Variant appearance in text: rs4377469
PubMed Link: 28448500
Variant Present in the following documents:
  • Main text
  • pgen.1006528.pdf
View BVdb publication page



Multicentric Genome-Wide Association Study for Primary Spontaneous Pneumothorax.

Plos One
Sousa, Inês I; Abrantes, Patrícia P; Francisco, Vânia V; Teixeira, Gilberto G; Monteiro, Marta M; Neves, João J; Norte, Ana A; Robalo Cordeiro, Carlos C; Moura E Sá, João J; Reis, Ernestina E; Santos, Patrícia P; Oliveira, Manuela M; Sousa, Susana S; Fradinho, Marta M; Malheiro, Filipa F; Negrão, Luís L; Feijó, Salvato S; Oliveira, Sofia A SA
Publication Date: 2016

Variant appearance in text: rs4377469
PubMed Link: 27203581
Variant Present in the following documents:
  • Main text
  • pone.0156103.pdf
View BVdb publication page



Common variants at CDKAL1 and KLF9 are associated with body mass index in east Asian populations.

Nature Genetics
Okada, Yukinori Y; Kubo, Michiaki M; Ohmiya, Hiroko H; Takahashi, Atsushi A; Kumasaka, Natsuhiko N; Hosono, Naoya N; Maeda, Shiro S; Wen, Wanqing W; Dorajoo, Rajkumar R; Go, Min Jin MJ; Zheng, Wei W; Kato, Norihiro N; Wu, Jer-Yuarn JY; Lu, Qi Q; , ; Tsunoda, Tatsuhiko T; Yamamoto, Kazuhiko K; Nakamura, Yusuke Y; Kamatani, Naoyuki N; Tanaka, Toshihiro T
Publication Date: 2012-02-19

Variant appearance in text: rs4377469
PubMed Link: 22344221
Variant Present in the following documents:
  • Main text
View BVdb publication page