COG5 c.539-38772G>T

Variant ID: 7-107091849-C-A

NM_006348.5(COG5):c.539-38772G>T

This variant was identified in 11 publications

View GRCh38 version.




Publications:


Lipid chaperones and associated diseases: a group of chaperonopathies defining a new nosological entity with implications for medical research and practice.

Cell Stress & Chaperones
D'Anneo, Antonella A; Bavisotto, Celeste Caruso CC; Gammazza, Antonella Marino AM; Paladino, Letizia L; Carlisi, Daniela D; Cappello, Francesco F; de Macario, Everly Conway EC; Macario, Alberto J L AJL; Lauricella, Marianna M
Publication Date: 2020-11

Variant appearance in text: rs12539895
PubMed Link: 32856199
Variant Present in the following documents:
  • Main text
  • 12192_2020_Article_1153.pdf
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Genetic Susceptibility Loci for Cardiovascular Disease and Their Impact on Atherosclerotic Plaques.

Circulation. Genomic And Precision Medicine
van der Laan, Sander W SW; Siemelink, Marten A MA; Haitjema, Saskia S; Foroughi Asl, Hassan H; Perisic, Ljubica L; Mokry, Michal M; van Setten, Jessica J; Malik, Rainer R; Dichgans, Martin M; Worrall, Bradford B BB; , ; Samani, Nilesh J NJ; Schunkert, Heribert H; Erdmann, Jeanette J; Hedin, Ulf U; Paulsson-Berne, Gabrielle G; Björkegrenn, Johan L M JLM; de Borst, Gert J GJ; Asselbergs, Folkert W FW; den Ruijter, Folkert W FW; de Bakker, Paul I W PIW; Pasterkamp, Gerard G
Publication Date: 2018-09

Variant appearance in text: rs12539895
PubMed Link: 30354329
Variant Present in the following documents:
  • Main text
  • hcg-11-e002115-s001.pdf
  • hcg-11-e002115.pdf
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Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes.

Cardiovascular Diabetology
Charmet, Romain R; Duffy, Seamus S; Keshavarzi, Sareh S; Gyorgy, Beata B; Marre, Michel M; Rossing, Peter P; McKnight, Amy Jayne AJ; Maxwell, Alexander P AP; Ahluwalia, Tarun Veer Singh TVS; Paterson, Andrew D AD; Trégouët, David-Alexandre DA; Hadjadj, Samy S
Publication Date: 2018-04-25

Variant appearance in text: rs12539895
PubMed Link: 29695241
Variant Present in the following documents:
  • Main text
  • 12933_2018_Article_705.pdf
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Heart Disease and Stroke Statistics-2017 Update: A Report From the American Heart Association.

Circulation
Benjamin, Emelia J EJ; Blaha, Michael J MJ; Chiuve, Stephanie E SE; Cushman, Mary M; Das, Sandeep R SR; Deo, Rajat R; de Ferranti, Sarah D SD; Floyd, James J; Fornage, Myriam M; Gillespie, Cathleen C; Isasi, Carmen R CR; Jiménez, Monik C MC; Jordan, Lori Chaffin LC; Judd, Suzanne E SE; Lackland, Daniel D; Lichtman, Judith H JH; Lisabeth, Lynda L; Liu, Simin S; Longenecker, Chris T CT; Mackey, Rachel H RH; Matsushita, Kunihiro K; Mozaffarian, Dariush D; Mussolino, Michael E ME; Nasir, Khurram K; Neumar, Robert W RW; Palaniappan, Latha L; Pandey, Dilip K DK; Thiagarajan, Ravi R RR; Reeves, Mathew J MJ; Ritchey, Matthew M; Rodriguez, Carlos J CJ; Roth, Gregory A GA; Rosamond, Wayne D WD; Sasson, Comilla C; Towfighi, Amytis A; Tsao, Connie W CW; Turner, Melanie B MB; Virani, Salim S SS; Voeks, Jenifer H JH; Willey, Joshua Z JZ; Wilkins, John T JT; Wu, Jason Hy JH; Alger, Heather M HM; Wong, Sally S SS; Muntner, Paul P; ,
Publication Date: 2017-03-07

Variant appearance in text: rs12539895
PubMed Link: 28122885
Variant Present in the following documents:
  • Main text
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Coronary Artery Calcification and Rheumatoid Arthritis: Lack of Relationship to Risk Alleles for Coronary Artery Disease in the General Population.

Arthritis & Rheumatology (Hoboken, N.J.)
Ferraz-Amaro, Iván I; Winchester, Robert R; Gregersen, Peter K PK; Reynolds, Richard J RJ; Wasko, Mary Chester MC; Oeser, Anette A; Chung, Cecilia P CP; Stein, C Michael CM; Giles, Jon T JT; Bathon, Joan M JM
Publication Date: 2017-03

Variant appearance in text: rs12539895
PubMed Link: 27696788
Variant Present in the following documents:
  • Main text
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Genome-Wide Association Study for Incident Myocardial Infarction and Coronary Heart Disease in Prospective Cohort Studies: The CHARGE Consortium.

Plos One
Dehghan, Abbas A; Bis, Joshua C JC; White, Charles C CC; Smith, Albert Vernon AV; Morrison, Alanna C AC; Cupples, L Adrienne LA; Trompet, Stella S; Chasman, Daniel I DI; Lumley, Thomas T; Völker, Uwe U; Buckley, Brendan M BM; Ding, Jingzhong J; Jensen, Majken K MK; Folsom, Aaron R AR; Kritchevsky, Stephen B SB; Girman, Cynthia J CJ; Ford, Ian I; Dörr, Marcus M; Salomaa, Veikko V; Uitterlinden, André G AG; Eiriksdottir, Gudny G; Vasan, Ramachandran S RS; Franceschini, Nora N; Carty, Cara L CL; Virtamo, Jarmo J; Demissie, Serkalem S; Amouyel, Philippe P; Arveiler, Dominique D; Heckbert, Susan R SR; Ferrières, Jean J; Ducimetière, Pierre P; Smith, Nicholas L NL; Wang, Ying A YA; Siscovick, David S DS; Rice, Kenneth M KM; Wiklund, Per-Gunnar PG; Taylor, Kent D KD; Evans, Alun A; Kee, Frank F; Rotter, Jerome I JI; Karvanen, Juha J; Kuulasmaa, Kari K; Heiss, Gerardo G; Kraft, Peter P; Launer, Lenore J LJ; Hofman, Albert A; Markus, Marcello R P MR; Rose, Lynda M LM; Silander, Kaisa K; Wagner, Peter P; Benjamin, Emelia J EJ; Lohman, Kurt K; Stott, David J DJ; Rivadeneira, Fernando F; Harris, Tamara B TB; Levy, Daniel D; Liu, Yongmei Y; Rimm, Eric B EB; Jukema, J Wouter JW; Völzke, Henry H; Ridker, Paul M PM; Blankenberg, Stefan S; Franco, Oscar H OH; Gudnason, Vilmundur V; Psaty, Bruce M BM; Boerwinkle, Eric E; O'Donnell, Christopher J CJ
Publication Date: 2016

Variant appearance in text: rs12539895
PubMed Link: 26950853
Variant Present in the following documents:
  • Main text
  • pone.0144997.pdf
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Drug-Gene Interactions of Antihypertensive Medications and Risk of Incident Cardiovascular Disease: A Pharmacogenomics Study from the CHARGE Consortium.

Plos One
Bis, Joshua C JC; Sitlani, Colleen C; Irvin, Ryan R; Avery, Christy L CL; Smith, Albert Vernon AV; Sun, Fangui F; Evans, Daniel S DS; Musani, Solomon K SK; Li, Xiaohui X; Trompet, Stella S; Krijthe, Bouwe P BP; Harris, Tamara B TB; Quibrera, P Miguel PM; Brody, Jennifer A JA; Demissie, Serkalem S; Davis, Barry R BR; Wiggins, Kerri L KL; Tranah, Gregory J GJ; Lange, Leslie A LA; Sotoodehnia, Nona N; Stott, David J DJ; Franco, Oscar H OH; Launer, Lenore J LJ; Stürmer, Til T; Taylor, Kent D KD; Cupples, L Adrienne LA; Eckfeldt, John H JH; Smith, Nicholas L NL; Liu, Yongmei Y; Wilson, James G JG; Heckbert, Susan R SR; Buckley, Brendan M BM; Ikram, M Arfan MA; Boerwinkle, Eric E; Chen, Yii-Der Ida YD; de Craen, Anton J M AJ; Uitterlinden, Andre G AG; Rotter, Jerome I JI; Ford, Ian I; Hofman, Albert A; Sattar, Naveed N; Slagboom, P Eline PE; Westendorp, Rudi G J RG; Gudnason, Vilmundur V; Vasan, Ramachandran S RS; Lumley, Thomas T; Cummings, Steven R SR; Taylor, Herman A HA; Post, Wendy W; Jukema, J Wouter JW; Stricker, Bruno H BH; Whitsel, Eric A EA; Psaty, Bruce M BM; Arnett, Donna D
Publication Date: 2015

Variant appearance in text: rs12539895
PubMed Link: 26516778
Variant Present in the following documents:
  • pone.0140496.s002.pdf
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Genome-wide association studies of late-onset cardiovascular disease.

Journal Of Molecular And Cellular Cardiology
Smith, J Gustav JG; Newton-Cheh, Christopher C
Publication Date: 2015-06

Variant appearance in text: rs12539895
PubMed Link: 25870159
Variant Present in the following documents:
  • Main text
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Current Insights into the Joint Genetic Basis of Type 2 Diabetes and Coronary Heart Disease.

Current Cardiovascular Risk Reports
Dauriz, Marco M; Meigs, James B JB
Publication Date: 2014-01-01

Variant appearance in text: rs12539895
PubMed Link: 24729826
Variant Present in the following documents:
  • Main text
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Heart disease and stroke statistics--2014 update: a report from the American Heart Association.

Circulation
Go, Alan S AS; Mozaffarian, Dariush D; Roger, Véronique L VL; Benjamin, Emelia J EJ; Berry, Jarett D JD; Blaha, Michael J MJ; Dai, Shifan S; Ford, Earl S ES; Fox, Caroline S CS; Franco, Sheila S; Fullerton, Heather J HJ; Gillespie, Cathleen C; Hailpern, Susan M SM; Heit, John A JA; Howard, Virginia J VJ; Huffman, Mark D MD; Judd, Suzanne E SE; Kissela, Brett M BM; Kittner, Steven J SJ; Lackland, Daniel T DT; Lichtman, Judith H JH; Lisabeth, Lynda D LD; Mackey, Rachel H RH; Magid, David J DJ; Marcus, Gregory M GM; Marelli, Ariane A; Matchar, David B DB; McGuire, Darren K DK; Mohler, Emile R ER; Moy, Claudia S CS; Mussolino, Michael E ME; Neumar, Robert W RW; Nichol, Graham G; Pandey, Dilip K DK; Paynter, Nina P NP; Reeves, Matthew J MJ; Sorlie, Paul D PD; Stein, Joel J; Towfighi, Amytis A; Turan, Tanya N TN; Virani, Salim S SS; Wong, Nathan D ND; Woo, Daniel D; Turner, Melanie B MB; ,
Publication Date: 2014-01-21

Variant appearance in text: rs12539895
PubMed Link: 24352519
Variant Present in the following documents:
  • Main text
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Large-scale association analysis identifies new risk loci for coronary artery disease.

Nature Genetics
, ; Deloukas, Panos P; Kanoni, Stavroula S; Willenborg, Christina C; Farrall, Martin M; Assimes, Themistocles L TL; Thompson, John R JR; Ingelsson, Erik E; Saleheen, Danish D; Erdmann, Jeanette J; Goldstein, Benjamin A BA; Stirrups, Kathleen K; König, Inke R IR; Cazier, Jean-Baptiste JB; Johansson, Asa A; Hall, Alistair S AS; Lee, Jong-Young JY; Willer, Cristen J CJ; Chambers, John C JC; Esko, Tõnu T; Folkersen, Lasse L; Goel, Anuj A; Grundberg, Elin E; Havulinna, Aki S AS; Ho, Weang K WK; Hopewell, Jemma C JC; Eriksson, Niclas N; Kleber, Marcus E ME; Kristiansson, Kati K; Lundmark, Per P; Lyytikäinen, Leo-Pekka LP; Rafelt, Suzanne S; Shungin, Dmitry D; Strawbridge, Rona J RJ; Thorleifsson, Gudmar G; Tikkanen, Emmi E; Van Zuydam, Natalie N; Voight, Benjamin F BF; Waite, Lindsay L LL; Zhang, Weihua W; Ziegler, Andreas A; Absher, Devin D; Altshuler, David D; Balmforth, Anthony J AJ; Barroso, Inês I; Braund, Peter S PS; Burgdorf, Christof C; Claudi-Boehm, Simone S; Cox, David D; Dimitriou, Maria M; Do, Ron R; , ; , ; Doney, Alex S F AS; El Mokhtari, NourEddine N; Eriksson, Per P; Fischer, Krista K; Fontanillas, Pierre P; Franco-Cereceda, Anders A; Gigante, Bruna B; Groop, Leif L; Gustafsson, Stefan S; Hager, Jörg J; Hallmans, Göran G; Han, Bok-Ghee BG; Hunt, Sarah E SE; Kang, Hyun M HM; Illig, Thomas T; Kessler, Thorsten T; Knowles, Joshua W JW; Kolovou, Genovefa G; Kuusisto, Johanna J; Langenberg, Claudia C; Langford, Cordelia C; Leander, Karin K; Lokki, Marja-Liisa ML; Lundmark, Anders A; McCarthy, Mark I MI; Meisinger, Christa C; Melander, Olle O; Mihailov, Evelin E; Maouche, Seraya S; Morris, Andrew D AD; Müller-Nurasyid, Martina M; , ; Nikus, Kjell K; Peden, John F JF; Rayner, N William NW; Rasheed, Asif A; Rosinger, Silke S; Rubin, Diana D; Rumpf, Moritz P MP; Schäfer, Arne A; Sivananthan, Mohan M; Song, Ci C; Stewart, Alexandre F R AF; Tan, Sian-Tsung ST; Thorgeirsson, Gudmundur G; van der Schoot, C Ellen CE; Wagner, Peter J PJ; , ; Wells, George A GA; Wild, Philipp S PS; Yang, Tsun-Po TP; Amouyel, Philippe P; Arveiler, Dominique D; Basart, Hanneke H; Boehnke, Michael M; Boerwinkle, Eric E; Brambilla, Paolo P; Cambien, Francois F; Cupples, Adrienne L AL; de Faire, Ulf U; Dehghan, Abbas A; Diemert, Patrick P; Epstein, Stephen E SE; Evans, Alun A; Ferrario, Marco M MM; Ferrières, Jean J; Gauguier, Dominique D; Go, Alan S AS; Goodall, Alison H AH; Gudnason, Villi V; Hazen, Stanley L SL; Holm, Hilma H; Iribarren, Carlos C; Jang, Yangsoo Y; Kähönen, Mika M; Kee, Frank F; Kim, Hyo-Soo HS; Klopp, Norman N; Koenig, Wolfgang W; Kratzer, Wolfgang W; Kuulasmaa, Kari K; Laakso, Markku M; Laaksonen, Reijo R; Lee, Ji-Young JY; Lind, Lars L; Ouwehand, Willem H WH; Parish, Sarah S; Park, Jeong E JE; Pedersen, Nancy L NL; Peters, Annette A; Quertermous, Thomas T; Rader, Daniel J DJ; Salomaa, Veikko V; Schadt, Eric E; Shah, Svati H SH; Sinisalo, Juha J; Stark, Klaus K; Stefansson, Kari K; Trégouët, David-Alexandre DA; Virtamo, Jarmo J; Wallentin, Lars L; Wareham, Nicholas N; Zimmermann, Martina E ME; Nieminen, Markku S MS; Hengstenberg, Christian C; Sandhu, Manjinder S MS; Pastinen, Tomi T; Syvänen, Ann-Christine AC; Hovingh, G Kees GK; Dedoussis, George G; Franks, Paul W PW; Lehtimäki, Terho T; Metspalu, Andres A; Zalloua, Pierre A PA; Siegbahn, Agneta A; Schreiber, Stefan S; Ripatti, Samuli S; Blankenberg, Stefan S SS; Perola, Markus M; Clarke, Robert R; Boehm, Bernhard O BO; O'Donnell, Christopher C; Reilly, Muredach P MP; März, Winfried W; Collins, Rory R; Kathiresan, Sekar S; Hamsten, Anders A; Kooner, Jaspal S JS; Thorsteinsdottir, Unnur U; Danesh, John J; Palmer, Colin N A CN; Roberts, Robert R; Watkins, Hugh H; Schunkert, Heribert H; Samani, Nilesh J NJ
Publication Date: 2013-01

Variant appearance in text: rs12539895
PubMed Link: 23202125
Variant Present in the following documents:
  • Main text
View BVdb publication page