PLCE1 c.1492+2961G>C

Variant ID: 10-95895177-G-C

NM_016341.3(PLCE1):c.1492+2961G>C

This variant was identified in 6 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: rs9663362
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Hypertension Susceptibility Loci are Associated with Anthracycline-related Cardiotoxicity in Long-term Childhood Cancer Survivors.

Scientific Reports
Hildebrandt, Michelle A T MAT; Reyes, Monica M; Wu, Xifeng X; Pu, Xia X; Thompson, Kara A KA; Ma, Jianzhong J; Landstrom, Andrew P AP; Morrison, Alanna C AC; Ater, Joann L JL
Publication Date: 2017-08-29

Variant appearance in text: rs9663362
PubMed Link: 28851949
Variant Present in the following documents:
  • Main text
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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: rs9663362
PubMed Link: 28448500
Variant Present in the following documents:
  • Main text
  • pgen.1006528.pdf
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Variant Discovery and Fine Mapping of Genetic Loci Associated with Blood Pressure Traits in Hispanics and African Americans.

Plos One
Franceschini, Nora N; Carty, Cara L CL; Lu, Yingchang Y; Tao, Ran R; Sung, Yun Ju YJ; Manichaikul, Ani A; Haessler, Jeff J; Fornage, Myriam M; Schwander, Karen K; Zubair, Niha N; Bien, Stephanie S; Hindorff, Lucia A LA; Guo, Xiuqing X; Bielinski, Suzette J SJ; Ehret, Georg G; Kaufman, Joel D JD; Rich, Stephen S SS; Carlson, Christopher S CS; Bottinger, Erwin P EP; North, Kari E KE; Rao, D C DC; Chakravarti, Aravinda A; Barrett, Paula Q PQ; Loos, Ruth J F RJ; Buyske, Steven S; Kooperberg, Charles C
Publication Date: 2016

Variant appearance in text: rs9663362
PubMed Link: 27736895
Variant Present in the following documents:
  • pone.0164132.s001.pdf
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Re-annotation of presumed noncoding disease/trait-associated genetic variants by integrative analyses.

Scientific Reports
Chen, Geng G; Yu, Dianke D; Chen, Jiwei J; Cao, Ruifang R; Yang, Juan J; Wang, Huan H; Ji, Xiangjun X; Ning, Baitang B; Shi, Tieliu T
Publication Date: 2015-03-30

Variant appearance in text: rs9663362
PubMed Link: 25819875
Variant Present in the following documents:
  • srep09453-s1.pdf
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Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.

Nature Genetics
Wain, Louise V LV; Verwoert, Germaine C GC; O'Reilly, Paul F PF; Shi, Gang G; Johnson, Toby T; Johnson, Andrew D AD; Bochud, Murielle M; Rice, Kenneth M KM; Henneman, Peter P; Smith, Albert V AV; Ehret, Georg B GB; Amin, Najaf N; Larson, Martin G MG; Mooser, Vincent V; Hadley, David D; Dörr, Marcus M; Bis, Joshua C JC; Aspelund, Thor T; Esko, Tõnu T; Janssens, A Cecile J W AC; Zhao, Jing Hua JH; Heath, Simon S; Laan, Maris M; Fu, Jingyuan J; Pistis, Giorgio G; Luan, Jian'an J; Arora, Pankaj P; Lucas, Gavin G; Pirastu, Nicola N; Pichler, Irene I; Jackson, Anne U AU; Webster, Rebecca J RJ; Zhang, Feng F; Peden, John F JF; Schmidt, Helena H; Tanaka, Toshiko T; Campbell, Harry H; Igl, Wilmar W; Milaneschi, Yuri Y; Hottenga, Jouke-Jan JJ; Vitart, Veronique V; Chasman, Daniel I DI; Trompet, Stella S; Bragg-Gresham, Jennifer L JL; Alizadeh, Behrooz Z BZ; Chambers, John C JC; Guo, Xiuqing X; Lehtimäki, Terho T; Kühnel, Brigitte B; Lopez, Lorna M LM; Polašek, Ozren O; Boban, Mladen M; Nelson, Christopher P CP; Morrison, Alanna C AC; Pihur, Vasyl V; Ganesh, Santhi K SK; Hofman, Albert A; Kundu, Suman S; Mattace-Raso, Francesco U S FU; Rivadeneira, Fernando F; Sijbrands, Eric J G EJ; Uitterlinden, Andre G AG; Hwang, Shih-Jen SJ; Vasan, Ramachandran S RS; Wang, Thomas J TJ; Bergmann, Sven S; Vollenweider, Peter P; Waeber, Gérard G; Laitinen, Jaana J; Pouta, Anneli A; Zitting, Paavo P; McArdle, Wendy L WL; Kroemer, Heyo K HK; Völker, Uwe U; Völzke, Henry H; Glazer, Nicole L NL; Taylor, Kent D KD; Harris, Tamara B TB; Alavere, Helene H; Haller, Toomas T; Keis, Aime A; Tammesoo, Mari-Liis ML; Aulchenko, Yurii Y; Barroso, Inês I; Khaw, Kay-Tee KT; Galan, Pilar P; Hercberg, Serge S; Lathrop, Mark M; Eyheramendy, Susana S; Org, Elin E; Sõber, Siim S; Lu, Xiaowen X; Nolte, Ilja M IM; Penninx, Brenda W BW; Corre, Tanguy T; Masciullo, Corrado C; Sala, Cinzia C; Groop, Leif L; Voight, Benjamin F BF; Melander, Olle O; O'Donnell, Christopher J CJ; Salomaa, Veikko V; d'Adamo, Adamo Pio AP; Fabretto, Antonella A; Faletra, Flavio F; Ulivi, Sheila S; Del Greco, Fabiola M F; Facheris, Maurizio M; Collins, Francis S FS; Bergman, Richard N RN; Beilby, John P JP; Hung, Joseph J; Musk, A William AW; Mangino, Massimo M; Shin, So-Youn SY; Soranzo, Nicole N; Watkins, Hugh H; Goel, Anuj A; Hamsten, Anders A; Gider, Pierre P; Loitfelder, Marisa M; Zeginigg, Marion M; Hernandez, Dena D; Najjar, Samer S SS; Navarro, Pau P; Wild, Sarah H SH; Corsi, Anna Maria AM; Singleton, Andrew A; de Geus, Eco J C EJ; Willemsen, Gonneke G; Parker, Alex N AN; Rose, Lynda M LM; Buckley, Brendan B; Stott, David D; Orru, Marco M; Uda, Manuela M; , ; van der Klauw, Melanie M MM; Zhang, Weihua W; Li, Xinzhong X; Scott, James J; Chen, Yii-Der Ida YD; Burke, Gregory L GL; Kähönen, Mika M; Viikari, Jorma J; Döring, Angela A; Meitinger, Thomas T; Davies, Gail G; Starr, John M JM; Emilsson, Valur V; Plump, Andrew A; Lindeman, Jan H JH; Hoen, Peter A C 't PA; König, Inke R IR; , ; Felix, Janine F JF; Clarke, Robert R; Hopewell, Jemma C JC; Ongen, Halit H; Breteler, Monique M; Debette, Stéphanie S; Destefano, Anita L AL; Fornage, Myriam M; , ; Mitchell, Gary F GF; , ; Smith, Nicholas L NL; , ; Holm, Hilma H; Stefansson, Kari K; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; , ; , ; , ; Samani, Nilesh J NJ; Preuss, Michael M; Rudan, Igor I; Hayward, Caroline C; Deary, Ian J IJ; Wichmann, H-Erich HE; Raitakari, Olli T OT; Palmas, Walter W; Kooner, Jaspal S JS; Stolk, Ronald P RP; Jukema, J Wouter JW; Wright, Alan F AF; Boomsma, Dorret I DI; Bandinelli, Stefania S; Gyllensten, Ulf B UB; Wilson, James F JF; Ferrucci, Luigi L; Schmidt, Reinhold R; Farrall, Martin M; Spector, Tim D TD; Palmer, Lyle J LJ; Tuomilehto, Jaakko J; Pfeufer, Arne A; Gasparini, Paolo P; Siscovick, David D; Altshuler, David D; Loos, Ruth J F RJ; Toniolo, Daniela D; Snieder, Harold H; Gieger, Christian C; Meneton, Pierre P; Wareham, Nicholas J NJ; Oostra, Ben A BA; Metspalu, Andres A; Launer, Lenore L; Rettig, Rainer R; Strachan, David P DP; Beckmann, Jacques S JS; Witteman, Jacqueline C M JC; Erdmann, Jeanette J; van Dijk, Ko Willems KW; Boerwinkle, Eric E; Boehnke, Michael M; Ridker, Paul M PM; Jarvelin, Marjo-Riitta MR; Chakravarti, Aravinda A; Abecasis, Goncalo R GR; Gudnason, Vilmundur V; Newton-Cheh, Christopher C; Levy, Daniel D; Munroe, Patricia B PB; Psaty, Bruce M BM; Caulfield, Mark J MJ; Rao, Dabeeru C DC; Tobin, Martin D MD; Elliott, Paul P; van Duijn, Cornelia M CM
Publication Date: 2011-09-11

Variant appearance in text: rs9663362
PubMed Link: 21909110
Variant Present in the following documents:
  • NIHMS316759-supplement-1.pdf
View BVdb publication page