TMCC2 c.748-2088G>A

Variant ID: 1-205235990-G-A

NM_014858.3(TMCC2):c.748-2088G>A

This variant was identified in 9 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: rs1668873
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation.

Human Genetics
Longchamps, R J RJ; Yang, S Y SY; Castellani, C A CA; Shi, W W; Lane, J J; Grove, M L ML; Bartz, T M TM; Sarnowski, C C; Liu, C C; Burrows, K K; Guyatt, A L AL; Gaunt, T R TR; Kacprowski, T T; Yang, J J; De Jager, P L PL; Yu, L L; Bergman, A A; Xia, R R; Fornage, M M; Feitosa, M F MF; Wojczynski, M K MK; Kraja, A T AT; Province, M A MA; Amin, N N; Rivadeneira, F F; Tiemeier, H H; Uitterlinden, A G AG; Broer, L L; Van Meurs, J B J JBJ; Van Duijn, C M CM; Raffield, L M LM; Lange, L L; Rich, S S SS; Lemaitre, R N RN; Goodarzi, M O MO; Sitlani, C M CM; Mak, A C Y ACY; Bennett, D A DA; Rodriguez, S S; Murabito, J M JM; Lunetta, K L KL; Sotoodehnia, N N; Atzmon, G G; Ye, K K; Barzilai, N N; Brody, J A JA; Psaty, B M BM; Taylor, K D KD; Rotter, J I JI; Boerwinkle, E E; Pankratz, N N; Arking, D E DE
Publication Date: 2022-01

Variant appearance in text: rs1668873
PubMed Link: 34859289
Variant Present in the following documents:
  • 439_2021_2394_MOESM3_ESM.xlsx, sheet 4
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Gene-based analysis of regulatory variants identifies 4 putative novel asthma risk genes related to nucleotide synthesis and signaling.

The Journal Of Allergy And Clinical Immunology
Ferreira, Manuel A R MA; Jansen, Rick R; Willemsen, Gonneke G; Penninx, Brenda B; Bain, Lisa M LM; Vicente, Cristina T CT; Revez, Joana A JA; Matheson, Melanie C MC; Hui, Jennie J; Tung, Joyce Y JY; Baltic, Svetlana S; Le Souëf, Peter P; Montgomery, Grant W GW; Martin, Nicholas G NG; Robertson, Colin F CF; James, Alan A; Thompson, Philip J PJ; Boomsma, Dorret I DI; Hopper, John L JL; Hinds, David A DA; Werder, Rhiannon B RB; Phipps, Simon S; ,
Publication Date: 2017-04

Variant appearance in text: rs1668873
PubMed Link: 27554816
Variant Present in the following documents:
  • Main text
View BVdb publication page



Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.

American Journal Of Human Genetics
Eicher, John D JD; Chami, Nathalie N; Kacprowski, Tim T; Nomura, Akihiro A; Chen, Ming-Huei MH; Yanek, Lisa R LR; Tajuddin, Salman M SM; Schick, Ursula M UM; Slater, Andrew J AJ; Pankratz, Nathan N; Polfus, Linda L; Schurmann, Claudia C; Giri, Ayush A; Brody, Jennifer A JA; Lange, Leslie A LA; Manichaikul, Ani A; Hill, W David WD; Pazoki, Raha R; Elliot, Paul P; Evangelou, Evangelos E; Tzoulaki, Ioanna I; Gao, He H; Vergnaud, Anne-Claire AC; Mathias, Rasika A RA; Becker, Diane M DM; Becker, Lewis C LC; Burt, Amber A; Crosslin, David R DR; Lyytikäinen, Leo-Pekka LP; Nikus, Kjell K; Hernesniemi, Jussi J; Kähönen, Mika M; Raitoharju, Emma E; Mononen, Nina N; Raitakari, Olli T OT; Lehtimäki, Terho T; Cushman, Mary M; Zakai, Neil A NA; Nickerson, Deborah A DA; Raffield, Laura M LM; Quarells, Rakale R; Willer, Cristen J CJ; Peloso, Gina M GM; Abecasis, Goncalo R GR; Liu, Dajiang J DJ; , ; Deloukas, Panos P; Samani, Nilesh J NJ; Schunkert, Heribert H; Erdmann, Jeanette J; , ; , ; Fornage, Myriam M; Richard, Melissa M; Tardif, Jean-Claude JC; Rioux, John D JD; Dube, Marie-Pierre MP; de Denus, Simon S; Lu, Yingchang Y; Bottinger, Erwin P EP; Loos, Ruth J F RJ; Smith, Albert Vernon AV; Harris, Tamara B TB; Launer, Lenore J LJ; Gudnason, Vilmundur V; Velez Edwards, Digna R DR; Torstenson, Eric S ES; Liu, Yongmei Y; Tracy, Russell P RP; Rotter, Jerome I JI; Rich, Stephen S SS; Highland, Heather M HM; Boerwinkle, Eric E; Li, Jin J; Lange, Ethan E; Wilson, James G JG; Mihailov, Evelin E; Mägi, Reedik R; Hirschhorn, Joel J; Metspalu, Andres A; Esko, Tõnu T; Vacchi-Suzzi, Caterina C; Nalls, Mike A MA; Zonderman, Alan B AB; Evans, Michele K MK; Engström, Gunnar G; Orho-Melander, Marju M; Melander, Olle O; O'Donoghue, Michelle L ML; Waterworth, Dawn M DM; Wallentin, Lars L; White, Harvey D HD; Floyd, James S JS; Bartz, Traci M TM; Rice, Kenneth M KM; Psaty, Bruce M BM; Starr, J M JM; Liewald, David C M DC; Hayward, Caroline C; Deary, Ian J IJ; Greinacher, Andreas A; Völker, Uwe U; Thiele, Thomas T; Völzke, Henry H; van Rooij, Frank J A FJ; Uitterlinden, André G AG; Franco, Oscar H OH; Dehghan, Abbas A; Edwards, Todd L TL; Ganesh, Santhi K SK; Kathiresan, Sekar S; Faraday, Nauder N; Auer, Paul L PL; Reiner, Alex P AP; Lettre, Guillaume G; Johnson, Andrew D AD
Publication Date: 2016-07-07

Variant appearance in text: rs1668873
PubMed Link: 27346686
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Nature Genetics
Auer, Paul L PL; Teumer, Alexander A; Schick, Ursula U; O'Shaughnessy, Andrew A; Lo, Ken Sin KS; Chami, Nathalie N; Carlson, Chris C; de Denus, Simon S; Dubé, Marie-Pierre MP; Haessler, Jeff J; Jackson, Rebecca D RD; Kooperberg, Charles C; Perreault, Louis-Philippe Lemieux LP; Nauck, Matthias M; Peters, Ulrike U; Rioux, John D JD; Schmidt, Frank F; Turcot, Valérie V; Völker, Uwe U; Völzke, Henry H; Greinacher, Andreas A; Hsu, Li L; Tardif, Jean-Claude JC; Diaz, George A GA; Reiner, Alexander P AP; Lettre, Guillaume G
Publication Date: 2014-06

Variant appearance in text: rs1668873
PubMed Link: 24777453
Variant Present in the following documents:
  • NIHMS581495-supplement-1.pdf
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A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.

Human Genetics
Shameer, Khader K; Denny, Joshua C JC; Ding, Keyue K; Jouni, Hayan H; Crosslin, David R DR; de Andrade, Mariza M; Chute, Christopher G CG; Peissig, Peggy P; Pacheco, Jennifer A JA; Li, Rongling R; Bastarache, Lisa L; Kho, Abel N AN; Ritchie, Marylyn D MD; Masys, Daniel R DR; Chisholm, Rex L RL; Larson, Eric B EB; McCarty, Catherine A CA; Roden, Dan M DM; Jarvik, Gail P GP; Kullo, Iftikhar J IJ
Publication Date: 2014-01

Variant appearance in text: rs1668873
PubMed Link: 24026423
Variant Present in the following documents:
  • Main text
View BVdb publication page



Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits.

Plos Genetics
Paul, Dirk S DS; Nisbet, James P JP; Yang, Tsun-Po TP; Meacham, Stuart S; Rendon, Augusto A; Hautaviita, Katta K; Tallila, Jonna J; White, Jacqui J; Tijssen, Marloes R MR; Sivapalaratnam, Suthesh S; Basart, Hanneke H; Trip, Mieke D MD; , ; , ; Göttgens, Berthold B; Soranzo, Nicole N; Ouwehand, Willem H WH; Deloukas, Panos P
Publication Date: 2011-06

Variant appearance in text: rs1668873
PubMed Link: 21738486
Variant Present in the following documents:
  • Main text
  • pgen.1002139.s016.pdf
  • pgen.1002139.pdf
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The genetics of normal platelet reactivity.

Blood
Kunicki, Thomas J TJ; Nugent, Diane J DJ
Publication Date: 2010-10-14

Variant appearance in text: rs1668873
PubMed Link: 20610812
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

Nature Genetics
Soranzo, Nicole N; Spector, Tim D TD; Mangino, Massimo M; Kühnel, Brigitte B; Rendon, Augusto A; Teumer, Alexander A; Willenborg, Christina C; Wright, Benjamin B; Chen, Li L; Li, Mingyao M; Salo, Perttu P; Voight, Benjamin F BF; Burns, Philippa P; Laskowski, Roman A RA; Xue, Yali Y; Menzel, Stephan S; Altshuler, David D; Bradley, John R JR; Bumpstead, Suzannah S; Burnett, Mary-Susan MS; Devaney, Joseph J; Döring, Angela A; Elosua, Roberto R; Epstein, Stephen E SE; Erber, Wendy W; Falchi, Mario M; Garner, Stephen F SF; Ghori, Mohammed J R MJ; Goodall, Alison H AH; Gwilliam, Rhian R; Hakonarson, Hakon H HH; Hall, Alistair S AS; Hammond, Naomi N; Hengstenberg, Christian C; Illig, Thomas T; König, Inke R IR; Knouff, Christopher W CW; McPherson, Ruth R; Melander, Olle O; Mooser, Vincent V; Nauck, Matthias M; Nieminen, Markku S MS; O'Donnell, Christopher J CJ; Peltonen, Leena L; Potter, Simon C SC; Prokisch, Holger H; Rader, Daniel J DJ; Rice, Catherine M CM; Roberts, Robert R; Salomaa, Veikko V; Sambrook, Jennifer J; Schreiber, Stefan S; Schunkert, Heribert H; Schwartz, Stephen M SM; Serbanovic-Canic, Jovana J; Sinisalo, Juha J; Siscovick, David S DS; Stark, Klaus K; Surakka, Ida I; Stephens, Jonathan J; Thompson, John R JR; Völker, Uwe U; Völzke, Henry H; Watkins, Nicholas A NA; Wells, George A GA; Wichmann, H-Erich HE; Van Heel, David A DA; Tyler-Smith, Chris C; Thein, Swee Lay SL; Kathiresan, Sekar S; Perola, Markus M; Reilly, Muredach P MP; Stewart, Alexandre F R AF; Erdmann, Jeanette J; Samani, Nilesh J NJ; Meisinger, Christa C; Greinacher, Andreas A; Deloukas, Panos P; Ouwehand, Willem H WH; Gieger, Christian C
Publication Date: 2009-11

Variant appearance in text: rs1668873
PubMed Link: 19820697
Variant Present in the following documents:
  • Main text
View BVdb publication page