MYH6 c.2292+18C>G

Variant ID: 14-23865885-G-C

NM_002471.3(MYH6):c.2292+18C>G

This variant was identified in 14 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: rs452036
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Genetic Determinants of Electrocardiographic P-Wave Duration and Relation to Atrial Fibrillation.

Circulation. Genomic And Precision Medicine
Weng, Lu-Chen LC; Hall, Amelia Weber AW; Choi, Seung Hoan SH; Jurgens, Sean J SJ; Haessler, Jeffrey J; Bihlmeyer, Nathan A NA; Grarup, Niels N; Lin, Honghuang H; Teumer, Alexander A; Li-Gao, Ruifang R; Yao, Jie J; Guo, Xiuqing X; Brody, Jennifer A JA; Müller-Nurasyid, Martina M; Schramm, Katharina K; Verweij, Niek N; van den Berg, Marten E ME; van Setten, Jessica J; Isaacs, Aaron A; Ramírez, Julia J; Warren, Helen R HR; Padmanabhan, Sandosh S; Kors, Jan A JA; de Boer, Rudolf A RA; van der Meer, Peter P; Sinner, Moritz F MF; Waldenberger, Melanie M; Psaty, Bruce M BM; Taylor, Kent D KD; Völker, Uwe U; Kanters, Jørgen K JK; Li, Man M; Alonso, Alvaro A; Perez, Marco V MV; Vaartjes, Ilonca I; Bots, Michiel L ML; Huang, Paul L PL; Heckbert, Susan R SR; Lin, Henry J HJ; Kornej, Jelena J; Munroe, Patricia B PB; van Duijn, Cornelia M CM; Asselbergs, Folkert W FW; Stricker, Bruno H BH; van der Harst, Pim P; Kääb, Stefan S; Peters, Annette A; Sotoodehnia, Nona N; Rotter, Jerome I JI; Mook-Kanamori, Dennis O DO; Dörr, Marcus M; Felix, Stephan B SB; Linneberg, Allan A; Hansen, Torben T; Arking, Dan E DE; Kooperberg, Charles C; Benjamin, Emelia J EJ; Lunetta, Kathryn L KL; Ellinor, Patrick T PT; Lubitz, Steven A SA
Publication Date: 2020-10

Variant appearance in text: rs452036
PubMed Link: 32822252
Variant Present in the following documents:
  • Main text
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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs452036
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1
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Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension.

International Journal Of Endocrinology
Azam, Afifah Binti AB; Azizan, Elena Aisha Binti EAB
Publication Date: 2018

Variant appearance in text: rs452036
PubMed Link: 29666641
Variant Present in the following documents:
  • Main text
  • IJE2018-7259704.pdf
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Genome-Wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos.

Scientific Reports
Sofer, Tamar T; Wong, Quenna Q; Hartwig, Fernando P FP; Taylor, Kent K; Warren, Helen R HR; Evangelou, Evangelos E; Cabrera, Claudia P CP; Levy, Daniel D; Kramer, Holly H; Lange, Leslie A LA; Horta, Bernardo L BL; , ; Kerr, Kathleen F KF; Reiner, Alex P AP; Franceschini, Nora N
Publication Date: 2017-09-04

Variant appearance in text: rs452036
PubMed Link: 28871152
Variant Present in the following documents:
  • 41598_2017_9019_MOESM1_ESM.pdf
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Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.

Circulation. Cardiovascular Genetics
Christophersen, Ingrid E IE; Magnani, Jared W JW; Yin, Xiaoyan X; Barnard, John J; Weng, Lu-Chen LC; Arking, Dan E DE; Niemeijer, Maartje N MN; Lubitz, Steven A SA; Avery, Christy L CL; Duan, Qing Q; Felix, Stephan B SB; Bis, Joshua C JC; Kerr, Kathleen F KF; Isaacs, Aaron A; Müller-Nurasyid, Martina M; Müller, Christian C; North, Kari E KE; Reiner, Alex P AP; Tinker, Lesley F LF; Kors, Jan A JA; Teumer, Alexander A; Petersmann, Astrid A; Sinner, Moritz F MF; Buzkova, Petra P; Smith, Jonathan D JD; Van Wagoner, David R DR; Völker, Uwe U; Waldenberger, Melanie M; Peters, Annette A; Meitinger, Thomas T; Limacher, Marian C MC; Wilhelmsen, Kirk C KC; Psaty, Bruce M BM; Hofman, Albert A; Uitterlinden, Andre A; Krijthe, Bouwe P BP; Zhang, Zhu-Ming ZM; Schnabel, Renate B RB; Kääb, Stefan S; van Duijn, Cornelia C; Rotter, Jerome I JI; Sotoodehnia, Nona N; Dörr, Marcus M; Li, Yun Y; Chung, Mina K MK; Soliman, Elsayed Z EZ; Alonso, Alvaro A; Whitsel, Eric A EA; Stricker, Bruno H BH; Benjamin, Emelia J EJ; Heckbert, Susan R SR; Ellinor, Patrick T PT
Publication Date: 2017-08

Variant appearance in text: rs452036
PubMed Link: 28794112
Variant Present in the following documents:
  • Main text
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Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

Nature Genetics
Liu, Chunyu C; Kraja, Aldi T AT; Smith, Jennifer A JA; Brody, Jennifer A JA; Franceschini, Nora N; Bis, Joshua C JC; Rice, Kenneth K; Morrison, Alanna C AC; Lu, Yingchang Y; Weiss, Stefan S; Guo, Xiuqing X; Palmas, Walter W; Martin, Lisa W LW; Chen, Yii-Der Ida YD; Surendran, Praveen P; Drenos, Fotios F; Cook, James P JP; Auer, Paul L PL; Chu, Audrey Y AY; Giri, Ayush A; Zhao, Wei W; Jakobsdottir, Johanna J; Lin, Li-An LA; Stafford, Jeanette M JM; Amin, Najaf N; Mei, Hao H; Yao, Jie J; Voorman, Arend A; , ; , ; , ; , ; Larson, Martin G MG; Grove, Megan L ML; Smith, Albert V AV; Hwang, Shih-Jen SJ; Chen, Han H; Huan, Tianxiao T; Kosova, Gulum G; Stitziel, Nathan O NO; Kathiresan, Sekar S; Samani, Nilesh N; Schunkert, Heribert H; Deloukas, Panos P; , ; Li, Man M; Fuchsberger, Christian C; Pattaro, Cristian C; Gorski, Mathias M; , ; Kooperberg, Charles C; Papanicolaou, George J GJ; Rossouw, Jacques E JE; Faul, Jessica D JD; Kardia, Sharon L R SL; Bouchard, Claude C; Raffel, Leslie J LJ; Uitterlinden, André G AG; Franco, Oscar H OH; Vasan, Ramachandran S RS; O'Donnell, Christopher J CJ; Taylor, Kent D KD; Liu, Kiang K; Bottinger, Erwin P EP; Gottesman, Omri O; Daw, E Warwick EW; Giulianini, Franco F; Ganesh, Santhi S; Salfati, Elias E; Harris, Tamara B TB; Launer, Lenore J LJ; Dörr, Marcus M; Felix, Stephan B SB; Rettig, Rainer R; Völzke, Henry H; Kim, Eric E; Lee, Wen-Jane WJ; Lee, I-Te IT; Sheu, Wayne H-H WH; Tsosie, Krystal S KS; Edwards, Digna R Velez DR; Liu, Yongmei Y; Correa, Adolfo A; Weir, David R DR; Völker, Uwe U; Ridker, Paul M PM; Boerwinkle, Eric E; Gudnason, Vilmundur V; Reiner, Alexander P AP; van Duijn, Cornelia M CM; Borecki, Ingrid B IB; Edwards, Todd L TL; Chakravarti, Aravinda A; Rotter, Jerome I JI; Psaty, Bruce M BM; Loos, Ruth J F RJ; Fornage, Myriam M; Ehret, Georg B GB; Newton-Cheh, Christopher C; Levy, Daniel D; Chasman, Daniel I DI
Publication Date: 2016-10

Variant appearance in text: rs452036
PubMed Link: 27618448
Variant Present in the following documents:
  • Main text
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Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

Nature Genetics
Surendran, Praveen P; Drenos, Fotios F; Young, Robin R; Warren, Helen H; Cook, James P JP; Manning, Alisa K AK; Grarup, Niels N; Sim, Xueling X; Barnes, Daniel R DR; Witkowska, Kate K; Staley, James R JR; Tragante, Vinicius V; Tukiainen, Taru T; Yaghootkar, Hanieh H; Masca, Nicholas N; Freitag, Daniel F DF; Ferreira, Teresa T; Giannakopoulou, Olga O; Tinker, Andrew A; Harakalova, Magdalena M; Mihailov, Evelin E; Liu, Chunyu C; Kraja, Aldi T AT; Fallgaard Nielsen, Sune S; Rasheed, Asif A; Samuel, Maria M; Zhao, Wei W; Bonnycastle, Lori L LL; Jackson, Anne U AU; Narisu, Narisu N; Swift, Amy J AJ; Southam, Lorraine L; Marten, Jonathan J; Huyghe, Jeroen R JR; Stančáková, Alena A; Fava, Cristiano C; Ohlsson, Therese T; Matchan, Angela A; Stirrups, Kathleen E KE; Bork-Jensen, Jette J; Gjesing, Anette P AP; Kontto, Jukka J; Perola, Markus M; Shaw-Hawkins, Susan S; Havulinna, Aki S AS; Zhang, He H; Donnelly, Louise A LA; Groves, Christopher J CJ; Rayner, N William NW; Neville, Matt J MJ; Robertson, Neil R NR; Yiorkas, Andrianos M AM; Herzig, Karl-Heinz KH; Kajantie, Eero E; Zhang, Weihua W; Willems, Sara M SM; Lannfelt, Lars L; Malerba, Giovanni G; Soranzo, Nicole N; Trabetti, Elisabetta E; Verweij, Niek N; Evangelou, Evangelos E; Moayyeri, Alireza A; Vergnaud, Anne-Claire AC; Nelson, Christopher P CP; Poveda, Alaitz A; Varga, Tibor V TV; Caslake, Muriel M; de Craen, Anton Jm AJ; Trompet, Stella S; Luan, Jian'an J; Scott, Robert A RA; Harris, Sarah E SE; Liewald, David Cm DC; Marioni, Riccardo R; Menni, Cristina C; Farmaki, Aliki-Eleni AE; Hallmans, Göran G; Renström, Frida F; Huffman, Jennifer E JE; Hassinen, Maija M; Burgess, Stephen S; Vasan, Ramachandran S RS; Felix, Janine F JF; , ; Uria-Nickelsen, Maria M; Malarstig, Anders A; Reily, Dermot F DF; Hoek, Maarten M; Vogt, Thomas T; Lin, Honghuang H; Lieb, Wolfgang W; , ; Traylor, Matthew M; Markus, Hugh F HF; , ; Highland, Heather M HM; Justice, Anne E AE; Marouli, Eirini E; , ; Lindström, Jaana J; Uusitupa, Matti M; Komulainen, Pirjo P; Lakka, Timo A TA; Rauramaa, Rainer R; Polasek, Ozren O; Rudan, Igor I; Rolandsson, Olov O; Franks, Paul W PW; Dedoussis, George G; Spector, Timothy D TD; , ; Jousilahti, Pekka P; Männistö, Satu S; Deary, Ian J IJ; Starr, John M JM; Langenberg, Claudia C; Wareham, Nick J NJ; Brown, Morris J MJ; Dominiczak, Anna F AF; Connell, John M JM; Jukema, J Wouter JW; Sattar, Naveed N; Ford, Ian I; Packard, Chris J CJ; Esko, Tõnu T; Mägi, Reedik R; Metspalu, Andres A; de Boer, Rudolf A RA; van der Meer, Peter P; van der Harst, Pim P; , ; Gambaro, Giovanni G; Ingelsson, Erik E; Lind, Lars L; de Bakker, Paul Iw PI; Numans, Mattijs E ME; Brandslund, Ivan I; Christensen, Cramer C; Petersen, Eva Rb ER; Korpi-Hyövälti, Eeva E; Oksa, Heikki H; Chambers, John C JC; Kooner, Jaspal S JS; Blakemore, Alexandra If AI; Franks, Steve S; Jarvelin, Marjo-Riitta MR; Husemoen, Lise L LL; Linneberg, Allan A; Skaaby, Tea T; Thuesen, Betina B; Karpe, Fredrik F; Tuomilehto, Jaakko J; Doney, Alex Sf AS; Morris, Andrew D AD; Palmer, Colin Na CN; Holmen, Oddgeir Lingaas OL; Hveem, Kristian K; Willer, Cristen J CJ; Tuomi, Tiinamaija T; Groop, Leif L; Käräjämäki, AnneMari A; Palotie, Aarno A; Ripatti, Samuli S; Salomaa, Veikko V; Alam, Dewan S DS; Shafi Majumder, Abdulla Al AA; Di Angelantonio, Emanuele E; Chowdhury, Rajiv R; McCarthy, Mark I MI; Poulter, Neil N; Stanton, Alice V AV; Sever, Peter P; Amouyel, Philippe P; Arveiler, Dominique D; Blankenberg, Stefan S; Ferrières, Jean J; Kee, Frank F; Kuulasmaa, Kari K; Müller-Nurasyid, Martina M; Veronesi, Giovanni G; Virtamo, Jarmo J; Deloukas, Panos P; , ; Elliott, Paul P; , ; Zeggini, Eleftheria E; Kathiresan, Sekar S; Melander, Olle O; Kuusisto, Johanna J; Laakso, Markku M; Padmanabhan, Sandosh S; Porteous, David D; Hayward, Caroline C; Scotland, Generation G; Collins, Francis S FS; Mohlke, Karen L KL; Hansen, Torben T; Pedersen, Oluf O; Boehnke, Michael M; Stringham, Heather M HM; , ; Frossard, Philippe P; Newton-Cheh, Christopher C; , ; Tobin, Martin D MD; Nordestgaard, Børge Grønne BG; , ; , ; , ; , ; Caulfield, Mark J MJ; Mahajan, Anubha A; Morris, Andrew P AP; Tomaszewski, Maciej M; Samani, Nilesh J NJ; Saleheen, Danish D; Asselbergs, Folkert W FW; Lindgren, Cecilia M CM; Danesh, John J; Wain, Louise V LV; Butterworth, Adam S AS; Howson, Joanna Mm JM; Munroe, Patricia B PB
Publication Date: 2016-10

Variant appearance in text: rs452036
PubMed Link: 27618447
Variant Present in the following documents:
  • Main text
  • NIHMS69533-supplement-Supplementary_Tables.xlsx, sheet 16
  • NIHMS69533-supplement-Supplementary_Tables.xlsx, sheet 5
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Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart.

Plos One
Koopmann, Tamara T TT; Adriaens, Michiel E ME; Moerland, Perry D PD; Marsman, Roos F RF; Westerveld, Margriet L ML; Lal, Sean S; Zhang, Taifang T; Simmons, Christine Q CQ; Baczko, Istvan I; dos Remedios, Cristobal C; Bishopric, Nanette H NH; Varro, Andras A; George, Alfred L AL; Lodder, Elisabeth M EM; Bezzina, Connie R CR
Publication Date: 2014

Variant appearance in text: rs452036
PubMed Link: 24846176
Variant Present in the following documents:
  • Main text
  • pone.0097380.pdf
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Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African Americans.

Annals Of Human Genetics
Jeff, Janina M JM; Ritchie, Marylyn D MD; Denny, Joshua C JC; Kho, Abel N AN; Ramirez, Andrea H AH; Crosslin, David D; Armstrong, Loren L; Basford, Melissa A MA; Wolf, Wendy A WA; Pacheco, Jennifer A JA; Chisholm, Rex L RL; Roden, Dan M DM; Hayes, M Geoffrey MG; Crawford, Dana C DC
Publication Date: 2013-07

Variant appearance in text: rs452036
PubMed Link: 23534349
Variant Present in the following documents:
  • Main text
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SNPs identified as modulators of ECG traits in the general population do not markedly affect ECG traits during acute myocardial infarction nor ventricular fibrillation risk in this condition.

Plos One
Pazoki, Raha R; de Jong, Jonas S S G JS; Marsman, Roos F RF; Bruinsma, Nienke N; Dekker, Lukas R C LR; Wilde, Arthur A M AA; Bezzina, Connie R CR; Tanck, Michael W T MW
Publication Date: 2013

Variant appearance in text: rs452036
PubMed Link: 23437344
Variant Present in the following documents:
  • Main text
  • pone.0057216.pdf
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Common genetic variation near the connexin-43 gene is associated with resting heart rate in African Americans: a genome-wide association study of 13,372 participants.

Heart Rhythm
Deo, R R; Nalls, M A MA; Avery, C L CL; Smith, J G JG; Evans, D S DS; Keller, M F MF; Butler, A M AM; Buxbaum, S G SG; Li, G G; Miguel Quibrera, P P; Smith, E N EN; Tanaka, T T; Akylbekova, E L EL; Alonso, A A; Arking, D E DE; Benjamin, E J EJ; Berenson, G S GS; Bis, J C JC; Chen, L Y LY; Chen, W W; Cummings, S R SR; Ellinor, P T PT; Evans, M K MK; Ferrucci, L L; Fox, E R ER; Heckbert, S R SR; Heiss, G G; Hsueh, W C WC; Kerr, K F KF; Limacher, M C MC; Liu, Y Y; Lubitz, S A SA; Magnani, J W JW; Mehra, R R; Marcus, G M GM; Murray, S S SS; Newman, A B AB; Njajou, O O; North, K E KE; Paltoo, D N DN; Psaty, B M BM; Redline, S S SS; Reiner, A P AP; Robinson, J G JG; Rotter, J I JI; Samdarshi, T E TE; Schnabel, R B RB; Schork, N J NJ; Singleton, A B AB; Siscovick, D D; Soliman, E Z EZ; Sotoodehnia, N N; Srinivasan, S R SR; Taylor, H A HA; Trevisan, M M; Zhang, Z Z; Zonderman, A B AB; Newton-Cheh, C C; Whitsel, E A EA
Publication Date: 2013-03

Variant appearance in text: rs452036
PubMed Link: 23183192
Variant Present in the following documents:
  • Main text
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Epidemiology and genetics of sudden cardiac death.

Circulation
Deo, Rajat R; Albert, Christine M CM
Publication Date: 2012-01-31

Variant appearance in text: rs452036
PubMed Link: 22294707
Variant Present in the following documents:
  • Main text
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Genome-wide association analysis identifies multiple loci related to resting heart rate.

Human Molecular Genetics
Eijgelsheim, Mark M; Newton-Cheh, Christopher C; Sotoodehnia, Nona N; de Bakker, Paul I W PI; Müller, Martina M; Morrison, Alanna C AC; Smith, Albert V AV; Isaacs, Aaron A; Sanna, Serena S; Dörr, Marcus M; Navarro, Pau P; Fuchsberger, Christian C; Nolte, Ilja M IM; de Geus, Eco J C EJ; Estrada, Karol K; Hwang, Shih-Jen SJ; Bis, Joshua C JC; Rückert, Ina-Maria IM; Alonso, Alvaro A; Launer, Lenore J LJ; Hottenga, Jouke Jan JJ; Rivadeneira, Fernando F; Noseworthy, Peter A PA; Rice, Kenneth M KM; Perz, Siegfried S; Arking, Dan E DE; Spector, Tim D TD; Kors, Jan A JA; Aulchenko, Yurii S YS; Tarasov, Kirill V KV; Homuth, Georg G; Wild, Sarah H SH; Marroni, Fabio F; Gieger, Christian C; Licht, Carmilla M CM; Prineas, Ronald J RJ; Hofman, Albert A; Rotter, Jerome I JI; Hicks, Andrew A AA; Ernst, Florian F; Najjar, Samer S SS; Wright, Alan F AF; Peters, Annette A; Fox, Ervin R ER; Oostra, Ben A BA; Kroemer, Heyo K HK; Couper, David D; Völzke, Henry H; Campbell, Harry H; Meitinger, Thomas T; Uda, Manuela M; Witteman, Jacqueline C M JC; Psaty, Bruce M BM; Wichmann, H-Erich HE; Harris, Tamara B TB; Kääb, Stefan S; Siscovick, David S DS; Jamshidi, Yalda Y; Uitterlinden, André G AG; Folsom, Aaron R AR; Larson, Martin G MG; Wilson, James F JF; Penninx, Brenda W BW; Snieder, Harold H; Pramstaller, Peter P PP; van Duijn, Cornelia M CM; Lakatta, Edward G EG; Felix, Stephan B SB; Gudnason, Vilmundur V; Pfeufer, Arne A; Heckbert, Susan R SR; Stricker, Bruno H Ch BH; Boerwinkle, Eric E; O'Donnell, Christopher J CJ
Publication Date: 2010-10-01

Variant appearance in text: rs452036
PubMed Link: 20639392
Variant Present in the following documents:
  • Main text
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