PHACTR1 c.250+151419C>A

Variant ID: 6-12901441-C-A

NM_030948.2(PHACTR1):c.250+151419C>A

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.

Diabetologia
Tremblay, Johanne J; Haloui, Mounsif M; Attaoua, Redha R; Tahir, Ramzan R; Hishmih, Camil C; Harvey, François F; Marois-Blanchet, François-Christophe FC; Long, Carole C; Simon, Paul P; Santucci, Lara L; Hizel, Candan C; Chalmers, John J; Marre, Michel M; Harrap, Stephen S; Cífková, Renata R; Krajčoviechová, Alena A; Matthews, David R DR; Williams, Bryan B; Poulter, Neil N; Zoungas, Sophia S; Colagiuri, Stephen S; Mancia, Giuseppe G; Grobbee, Diederick E DE; Rodgers, Anthony A; Liu, Liusheng L; Agbessi, Mawussé M; Bruat, Vanessa V; Favé, Marie-Julie MJ; Harwood, Michelle P MP; Awadalla, Philip P; Woodward, Mark M; Hussin, Julie G JG; Hamet, Pavel P
Publication Date: 2021-09

Variant appearance in text: rs9369640
PubMed Link: 34226943
Variant Present in the following documents:
  • 125_2021_5491_MOESM1_ESM.pdf
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Genetic Risk Score for Coronary Heart Disease: Review.

Journal Of Personalized Medicine
Semaev, Sergey S; Shakhtshneider, Elena E
Publication Date: 2020-11-20

Variant appearance in text: rs9369640
PubMed Link: 33233501
Variant Present in the following documents:
  • Main text
  • jpm-10-00239.pdf
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Associations between PHACTR1 gene polymorphisms and pulse pressure in Chinese Han population.

Bioscience Reports
Gu, Kunfang K; Zhang, Yue Y; Sun, Ke K; Jiang, Xiubo X
Publication Date: 2020-06-26

Variant appearance in text: rs9369640
PubMed Link: 32420588
Variant Present in the following documents:
  • Main text
  • bsr-40-bsr20193779.pdf
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Identification of 26 novel loci that confer susceptibility to early-onset coronary artery disease in a Japanese population.

Biomedical Reports
Yamada, Yoshiji Y; Yasukochi, Yoshiki Y; Kato, Kimihiko K; Oguri, Mitsutoshi M; Horibe, Hideki H; Fujimaki, Tetsuo T; Takeuchi, Ichiro I; Sakuma, Jun J
Publication Date: 2018-11

Variant appearance in text: rs9369640
PubMed Link: 30402224
Variant Present in the following documents:
  • Main text
  • br-09-05-0383.pdf
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iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types.

Stem Cell Reports
Panopoulos, Athanasia D AD; D'Antonio, Matteo M; Benaglio, Paola P; Williams, Roy R; Hashem, Sherin I SI; Schuldt, Bernhard M BM; DeBoever, Christopher C; Arias, Angelo D AD; Garcia, Melvin M; Nelson, Bradley C BC; Harismendy, Olivier O; Jakubosky, David A DA; Donovan, Margaret K R MKR; Greenwald, William W WW; Farnam, KathyJean K; Cook, Megan M; Borja, Victor V; Miller, Carl A CA; Grinstein, Jonathan D JD; Drees, Frauke F; Okubo, Jonathan J; Diffenderfer, Kenneth E KE; Hishida, Yuriko Y; Modesto, Veronica V; Dargitz, Carl T CT; Feiring, Rachel R; Zhao, Chang C; Aguirre, Aitor A; McGarry, Thomas J TJ; Matsui, Hiroko H; Li, He H; Reyna, Joaquin J; Rao, Fangwen F; O'Connor, Daniel T DT; Yeo, Gene W GW; Evans, Sylvia M SM; Chi, Neil C NC; Jepsen, Kristen K; Nariai, Naoki N; Müller, Franz-Josef FJ; Goldstein, Lawrence S B LSB; Izpisua Belmonte, Juan Carlos JC; Adler, Eric E; Loring, Jeanne F JF; Berggren, W Travis WT; D'Antonio-Chronowska, Agnieszka A; Smith, Erin N EN; Frazer, Kelly A KA
Publication Date: 2017-04-11

Variant appearance in text: rs9369640
PubMed Link: 28410642
Variant Present in the following documents:
  • mmc7.pdf
  • main.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: rs9369640
PubMed Link: 28122885
Variant Present in the following documents:
  • Main text
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Multiethnic Exome-Wide Association Study of Subclinical Atherosclerosis.

Circulation. Cardiovascular Genetics
Natarajan, Pradeep P; Bis, Joshua C JC; Bielak, Lawrence F LF; Cox, Amanda J AJ; Dörr, Marcus M; Feitosa, Mary F MF; Franceschini, Nora N; Guo, Xiuqing X; Hwang, Shih-Jen SJ; Isaacs, Aaron A; Jhun, Min A MA; Kavousi, Maryam M; Li-Gao, Ruifang R; Lyytikäinen, Leo-Pekka LP; Marioni, Riccardo E RE; Schminke, Ulf U; Stitziel, Nathan O NO; Tada, Hayato H; van Setten, Jessica J; Smith, Albert V AV; Vojinovic, Dina D; Yanek, Lisa R LR; Yao, Jie J; Yerges-Armstrong, Laura M LM; Amin, Najaf N; Baber, Usman U; Borecki, Ingrid B IB; Carr, J Jeffrey JJ; Chen, Yii-Der Ida YI; Cupples, L Adrienne LA; de Jong, Pim A PA; de Koning, Harry H; de Vos, Bob D BD; Demirkan, Ayse A; Fuster, Valentin V; Franco, Oscar H OH; Goodarzi, Mark O MO; Harris, Tamara B TB; Heckbert, Susan R SR; Heiss, Gerardo G; Hoffmann, Udo U; Hofman, Albert A; Išgum, Ivana I; Jukema, J Wouter JW; Kähönen, Mika M; Kardia, Sharon L R SL; Kral, Brian G BG; Launer, Lenore J LJ; Massaro, Joe J; Mehran, Roxana R; Mitchell, Braxton D BD; Mosley, Thomas H TH; de Mutsert, Renée R; Newman, Anne B AB; Nguyen, Khanh-Dung KD; North, Kari E KE; O'Connell, Jeffrey R JR; Oudkerk, Matthijs M; Pankow, James S JS; Peloso, Gina M GM; Post, Wendy W; Province, Michael A MA; Raffield, Laura M LM; Raitakari, Olli T OT; Reilly, Dermot F DF; Rivadeneira, Fernando F; Rosendaal, Frits F; Sartori, Samantha S; Taylor, Kent D KD; Teumer, Alexander A; Trompet, Stella S; Turner, Stephen T ST; Uitterlinden, Andre G AG; Vaidya, Dhananjay D; van der Lugt, Aad A; Völker, Uwe U; Wardlaw, Joanna M JM; Wassel, Christina L CL; Weiss, Stefan S; Wojczynski, Mary K MK; Becker, Diane M DM; Becker, Lewis C LC; Boerwinkle, Eric E; Bowden, Donald W DW; Deary, Ian J IJ; Dehghan, Abbas A; Felix, Stephan B SB; Gudnason, Vilmundur V; Lehtimäki, Terho T; Mathias, Rasika R; Mook-Kanamori, Dennis O DO; Psaty, Bruce M BM; Rader, Daniel J DJ; Rotter, Jerome I JI; Wilson, James G JG; van Duijn, Cornelia M CM; Völzke, Henry H; Kathiresan, Sekar S; Peyser, Patricia A PA; O'Donnell, Christopher J CJ; ,
Publication Date: 2016-12

Variant appearance in text: rs9369640
PubMed Link: 27872105
Variant Present in the following documents:
  • Main text
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PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.

Plos Genetics
Kiando, Soto Romuald SR; Tucker, Nathan R NR; Castro-Vega, Luis-Jaime LJ; Katz, Alexander A; D'Escamard, Valentina V; Tréard, Cyrielle C; Fraher, Daniel D; Albuisson, Juliette J; Kadian-Dodov, Daniella D; Ye, Zi Z; Austin, Erin E; Yang, Min-Lee ML; Hunker, Kristina K; Barlassina, Cristina C; Cusi, Daniele D; Galan, Pilar P; Empana, Jean-Philippe JP; Jouven, Xavier X; Gimenez-Roqueplo, Anne-Paule AP; Bruneval, Patrick P; Hyun Kim, Esther Soo ES; Olin, Jeffrey W JW; Gornik, Heather L HL; Azizi, Michel M; Plouin, Pierre-François PF; Ellinor, Patrick T PT; Kullo, Iftikhar J IJ; Milan, David J DJ; Ganesh, Santhi K SK; Boutouyrie, Pierre P; Kovacic, Jason C JC; Jeunemaitre, Xavier X; Bouatia-Naji, Nabila N
Publication Date: 2016-10

Variant appearance in text: rs9369640
PubMed Link: 27792790
Variant Present in the following documents:
  • Main text
  • pgen.1006367.pdf
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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: rs9369640
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: rs9369640
PubMed Link: 26950853
Variant Present in the following documents:
  • Main text
  • pone.0144997.pdf
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Association analysis of GWAS and candidate gene loci in a Chinese population with coronary heart disease.

International Journal Of Clinical And Experimental Medicine
Gao, Min M; Tang, Haiqin H; Zheng, Xiaodong X; Zhou, Fusheng F; Lu, Wensheng W
Publication Date: 2015

Variant appearance in text: rs9369640
PubMed Link: 26221293
Variant Present in the following documents:
  • Main text
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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: rs9369640
PubMed Link: 25870159
Variant Present in the following documents:
  • Main text
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Prospective associations of coronary heart disease loci in African Americans using the MetaboChip: the PAGE study.

Plos One
Franceschini, Nora N; Hu, Yijuan Y; Reiner, Alex P AP; Buyske, Steven S; Nalls, Mike M; Yanek, Lisa R LR; Li, Yun Y; Hindorff, Lucia A LA; Cole, Shelley A SA; Howard, Barbara V BV; Stafford, Jeanette M JM; Carty, Cara L CL; Sethupathy, Praveen P; Martin, Lisa W LW; Lin, Dan-Yu DY; Johnson, Karen C KC; Becker, Lewis C LC; North, Kari E KE; Dehghan, Abbas A; Bis, Joshua C JC; Liu, Yongmei Y; Greenland, Philip P; Manson, JoAnn E JE; Maeda, Nobuyo N; Garcia, Melissa M; Harris, Tamara B TB; Becker, Diane M DM; O'Donnell, Christopher C; Heiss, Gerardo G; Kooperberg, Charles C; Boerwinkle, Eric E
Publication Date: 2014

Variant appearance in text: rs9369640
PubMed Link: 25542012
Variant Present in the following documents:
  • Main text
  • pone.0113203.pdf
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Association of a transcription factor 21 gene polymorphism with hypertension.

Biomedical Reports
Fujimaki, Tetsuo T; Oguri, Mitsutoshi M; Horibe, Hideki H; Kato, Kimihiko K; Matsuoka, Reiko R; Abe, Shintaro S; Tokoro, Fumitaka F; Arai, Masazumi M; Noda, Toshiyuki T; Watanabe, Sachiro S; Yamada, Yoshiji Y
Publication Date: 2015-01

Variant appearance in text: rs9369640
PubMed Link: 25469260
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs9369640
PubMed Link: 24729826
Variant Present in the following documents:
  • Main text
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Pathogenesis of coronary artery disease: focus on genetic risk factors and identification of genetic variants.

The Application Of Clinical Genetics
Sayols-Baixeras, Sergi S; Lluís-Ganella, Carla C; Lucas, Gavin G; Elosua, Roberto R
Publication Date: 2014

Variant appearance in text: rs9369640
PubMed Link: 24520200
Variant Present in the following documents:
  • Main text
  • tacg-7-015.pdf
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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: rs9369640
PubMed Link: 24352519
Variant Present in the following documents:
  • Main text
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Common genetic variants do not associate with CAD in familial hypercholesterolemia.

European Journal Of Human Genetics : Ejhg
van Iperen, Erik P A EP; Sivapalaratnam, Suthesh S; Boekholdt, S Matthijs SM; Hovingh, G Kees GK; Maiwald, Stephanie S; Tanck, Michael W MW; Soranzo, Nicole N; Stephens, Jonathan C JC; Sambrook, Jennifer G JG; Levi, Marcel M; Ouwehand, Willem H WH; Kastelein, John Jp JJ; Trip, Mieke D MD; Zwinderman, Aeilko H AH
Publication Date: 2014-06

Variant appearance in text: rs9369640
PubMed Link: 24219970
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs9369640
PubMed Link: 23202125
Variant Present in the following documents:
  • Main text
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