CETP c.234-3014G>A

Variant ID: 16-57000284-G-A

NM_000078.2(CETP):c.234-3014G>A

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Cholesteryl ester transfer protein (CETP) as a drug target for cardiovascular disease.

Nature Communications
Schmidt, Amand F AF; Hunt, Nicholas B NB; Gordillo-Marañón, Maria M; Charoen, Pimphen P; Drenos, Fotios F; Kivimaki, Mika M; Lawlor, Deborah A DA; Giambartolomei, Claudia C; Papacosta, Olia O; Chaturvedi, Nishi N; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Wannamethee, Goya G; Wong, Andrew A; Price, Jackie F JF; Hughes, Alun D AD; Gaunt, Tom R TR; Franceschini, Nora N; Mook-Kanamori, Dennis O DO; Zwierzyna, Magdalena M; Sofat, Reecha R; Hingorani, Aroon D AD; Finan, Chris C
Publication Date: 2021-09-24

Variant appearance in text: rs820299
PubMed Link: 34561430
Variant Present in the following documents:
  • 41467_2021_25703_MOESM1_ESM.pdf
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs820299
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Discovery and replication of SNP-SNP interactions for quantitative lipid traits in over 60,000 individuals.

Biodata Mining
Holzinger, Emily R ER; Verma, Shefali S SS; Moore, Carrie B CB; Hall, Molly M; De, Rishika R; Gilbert-Diamond, Diane D; Lanktree, Matthew B MB; Pankratz, Nathan N; Amuzu, Antoinette A; Burt, Amber A; Dale, Caroline C; Dudek, Scott S; Furlong, Clement E CE; Gaunt, Tom R TR; Kim, Daniel Seung DS; Riess, Helene H; Sivapalaratnam, Suthesh S; Tragante, Vinicius V; van Iperen, Erik P A EPA; Brautbar, Ariel A; Carrell, David S DS; Crosslin, David R DR; Jarvik, Gail P GP; Kuivaniemi, Helena H; Kullo, Iftikhar J IJ; Larson, Eric B EB; Rasmussen-Torvik, Laura J LJ; Tromp, Gerard G; Baumert, Jens J; Cruickshanks, Karen J KJ; Farrall, Martin M; Hingorani, Aroon D AD; Hovingh, G K GK; Kleber, Marcus E ME; Klein, Barbara E BE; Klein, Ronald R; Koenig, Wolfgang W; Lange, Leslie A LA; Mӓrz, Winfried W; North, Kari E KE; Charlotte Onland-Moret, N N; Reiner, Alex P AP; Talmud, Philippa J PJ; van der Schouw, Yvonne T YT; Wilson, James G JG; Kivimaki, Mika M; Kumari, Meena M; Moore, Jason H JH; Drenos, Fotios F; Asselbergs, Folkert W FW; Keating, Brendan J BJ; Ritchie, Marylyn D MD
Publication Date: 2017

Variant appearance in text: rs820299
PubMed Link: 28770004
Variant Present in the following documents:
  • Main text
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Fine mapping the CETP region reveals a common intronic insertion associated to HDL-C.

Npj Aging And Mechanisms Of Disease
van Leeuwen, Elisabeth M EM; Huffman, Jennifer E JE; Bis, Joshua C JC; Isaacs, Aaron A; Mulder, Monique M; Sabo, Aniko A; Smith, Albert V AV; Demissie, Serkalem S; Manichaikul, Ani A; Brody, Jennifer A JA; Feitosa, Mary F MF; Duan, Qing Q; Schraut, Katharina E KE; Navarro, Pau P; van Vliet-Ostaptchouk, Jana V JV; Zhu, Gu G; Mbarek, Hamdi H; Trompet, Stella S; Verweij, Niek N; Lyytikäinen, Leo-Pekka LP; Deelen, Joris J; Nolte, Ilja M IM; van der Laan, Sander W SW; Davies, Gail G; Vermeij-Verdoold, Andrea Jm AJ; van Oosterhout, Andy Alj AA; Vergeer-Drop, Jeannette M JM; Arking, Dan E DE; Trochet, Holly H; , ; Medina-Gomez, Carolina C; Rivadeneira, Fernando F; Uitterlinden, Andre G AG; Dehghan, Abbas A; Franco, Oscar H OH; Sijbrands, Eric J EJ; Hofman, Albert A; White, Charles C CC; Mychaleckyj, Josyf C JC; Peloso, Gina M GM; Swertz, Morris A MA; , ; Willemsen, Gonneke G; de Geus, Eco J EJ; Milaneschi, Yuri Y; Penninx, Brenda Wjh BW; Ford, Ian I; Buckley, Brendan M BM; de Craen, Anton Jm AJ; Starr, John M JM; Deary, Ian J IJ; Pasterkamp, Gerard G; Oldehinkel, Albertine J AJ; Snieder, Harold H; Slagboom, P Eline PE; Nikus, Kjell K; Kähönen, Mika M; Lehtimäki, Terho T; Viikari, Jorma S JS; Raitakari, Olli T OT; van der Harst, Pim P; Jukema, J Wouter JW; Hottenga, Jouke-Jan JJ; Boomsma, Dorret I DI; Whitfield, John B JB; Montgomery, Grant G; Martin, Nicholas G NG; , ; Polasek, Ozren O; Vitart, Veronique V; Hayward, Caroline C; Kolcic, Ivana I; Wright, Alan F AF; Rudan, Igor I; Joshi, Peter K PK; Wilson, James F JF; Lange, Leslie A LA; Wilson, James G JG; Gudnason, Vilmundur V; Harris, Tamar B TB; Morrison, Alanna C AC; Borecki, Ingrid B IB; Rich, Stephen S SS; Padmanabhan, Sandosh S; Psaty, Bruce M BM; Rotter, Jerome I JI; Smith, Blair H BH; Boerwinkle, Eric E; Cupples, L Adrienne LA; van Duijn, Cornelia C
Publication Date: 2015

Variant appearance in text: rs820299
PubMed Link: 28721259
Variant Present in the following documents:
  • Main text
  • npjamd201511.pdf
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Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Bmc Cancer
Lonjou, Christine C; Damiola, Francesca F; Moissonnier, Monika M; Durand, Geoffroy G; Malakhova, Irina I; Masyakin, Vladimir V; Le Calvez-Kelm, Florence F; Cardis, Elisabeth E; Byrnes, Graham G; Kesminiene, Ausrele A; Lesueur, Fabienne F
Publication Date: 2017-05-12

Variant appearance in text: rs820299
PubMed Link: 28499365
Variant Present in the following documents:
  • 12885_2017_3314_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Association and interaction of APOA5, BUD13, CETP, LIPA and health-related behavior with metabolic syndrome in a Taiwanese population.

Scientific Reports
Lin, Eugene E; Kuo, Po-Hsiu PH; Liu, Yu-Li YL; Yang, Albert C AC; Kao, Chung-Feng CF; Tsai, Shih-Jen SJ
Publication Date: 2016-11-09

Variant appearance in text: rs820299
PubMed Link: 27827461
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in CETP increase risk of intracerebral hemorrhage.

Annals Of Neurology
Anderson, Christopher D CD; Falcone, Guido J GJ; Phuah, Chia-Ling CL; Radmanesh, Farid F; Brouwers, H Bart HB; Battey, Thomas W K TW; Biffi, Alessandro A; Peloso, Gina M GM; Liu, Dajiang J DJ; Ayres, Alison M AM; Goldstein, Joshua N JN; Viswanathan, Anand A; Greenberg, Steven M SM; Selim, Magdy M; Meschia, James F JF; Brown, Devin L DL; Worrall, Bradford B BB; Silliman, Scott L SL; Tirschwell, David L DL; Flaherty, Matthew L ML; Kraft, Peter P; Jagiella, Jeremiasz M JM; Schmidt, Helena H; Hansen, Björn M BM; Jimenez-Conde, Jordi J; Giralt-Steinhauer, Eva E; Elosua, Roberto R; Cuadrado-Godia, Elisa E; Soriano, Carolina C; van Nieuwenhuizen, Koen M KM; Klijn, Catharina J M CJ; Rannikmae, Kristiina K; Samarasekera, Neshika N; Al-Shahi Salman, Rustam R; Sudlow, Catherine L CL; Deary, Ian J IJ; Morotti, Andrea A; Pezzini, Alessandro A; Pera, Joanna J; Urbanik, Andrzej A; Pichler, Alexander A; Enzinger, Christian C; Norrving, Bo B; Montaner, Joan J; Fernandez-Cadenas, Israel I; Delgado, Pilar P; Roquer, Jaume J; Lindgren, Arne A; Slowik, Agnieszka A; Schmidt, Reinhold R; Kidwell, Chelsea S CS; Kittner, Steven J SJ; Waddy, Salina P SP; Langefeld, Carl D CD; Abecasis, Goncalo G; Willer, Cristen J CJ; Kathiresan, Sekar S; Woo, Daniel D; Rosand, Jonathan J; ,
Publication Date: 2016-11

Variant appearance in text: rs820299
PubMed Link: 27717122
Variant Present in the following documents:
  • Main text
  • ANA-80-730.pdf
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Assessment of established HDL-C loci for association with HDL-C levels and type 2 diabetes in Pima Indians.

Diabetologia
Nair, Anup K AK; Piaggi, Paolo P; McLean, Nellie A NA; Kaur, Manmeet M; Kobes, Sayuko S; Knowler, William C WC; Bogardus, Clifton C; Hanson, Robert L RL; Baier, Leslie J LJ
Publication Date: 2016-03

Variant appearance in text: rs820299
PubMed Link: 26670163
Variant Present in the following documents:
  • Main text
View BVdb publication page