F7 c.1172G>T ;(p.R391L)

Variant ID: 13-113773159-G-T

NM_019616.3(F7):c.1172G>T;(p.R391L)

This variant was identified in 63 publications

View GRCh38 version.




Publications:


Relationships between indicators of prothrombotic activity and coronary microvascular dysfunction in patients with myocardial infarction with obstructive and non-obstructive coronary artery disease.

Bmc Cardiovascular Disorders
Vorobeva, Darya A DA; Ryabov, Vyacheslav V VV; Lugacheva, Julia G JG; Zavadovsky, Konstantin V KV; Mochula, Andrew V AV
Publication Date: 2022-12-06

Variant appearance in text: rs6046
PubMed Link: 36474151
Variant Present in the following documents:
  • Main text
  • 12872_2022_Article_2985.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs6046
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Large-Scale Targeted Sequencing Study of Ischemic Stroke in the Han Chinese Population.

Journal Of The American Heart Association
Shi, Mengyao M; Kelly, Tanika N TN; Zhu, Zhengbao Z; Li, Changwei C; Shen, Chong C; Sun, Yingxian Y; Wang, Aili A; Shan, Guangliang G; Bu, Xiaoqing X; Guo, Daoxia D; Zhao, Jingbo J; Xu, Tan T; Peng, Hao H; Xu, Tian T; Zhong, Chongke C; Sun, Xiao X; Chen, Jing J; Zhang, Yonghong Y; He, Jiang J
Publication Date: 2022-10-04

Variant appearance in text: rs6046
PubMed Link: 36193932
Variant Present in the following documents:
  • JAH3-11-e025245.pdf
View BVdb publication page



Early Postoperative Immunothrombosis of Bioprosthetic Mitral Valve and Left Atrium: A Case Report.

International Journal Of Molecular Sciences
Kostyunin, Alexander A; Glushkova, Tatiana T; Stasev, Alexander A; Mukhamadiyarov, Rinat R; Velikanova, Elena E; Bogdanov, Leo L; Sinitskaya, Anna A; Asanov, Maxim M; Ovcharenko, Evgeny E; Barbarash, Leonid L; Kutikhin, Anton A
Publication Date: 2022-06-16

Variant appearance in text: rs6046
PubMed Link: 35743174
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nutrigenetics, omega-3 and plasma lipids/lipoproteins/apolipoproteins with evidence evaluation using the GRADE approach: a systematic review.

Bmj Open
Keathley, Justine J; Garneau, Véronique V; Marcil, Valérie V; Mutch, David M DM; Robitaille, Julie J; Rudkowska, Iwona I; Sofian, Gabriela Magdalena GM; Desroches, Sophie S; Vohl, Marie-Claude MC
Publication Date: 2022-02-22

Variant appearance in text: rs6046
PubMed Link: 35193914
Variant Present in the following documents:
  • bmjopen-2021-054417supp001.pdf
  • bmjopen-2021-054417.draft_revisions.pdf
View BVdb publication page



Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer
Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC
Publication Date: 2021-05-29

Variant appearance in text: rs6046
PubMed Link: 34051734
Variant Present in the following documents:
  • 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Resolving Differential Diagnostic Problems in von Willebrand Disease, in Fibrinogen Disorders, in Prekallikrein Deficiency and in Hereditary Hemorrhagic Telangiectasia by Next-Generation Sequencing.

Life (Basel, Switzerland)
Gindele, Réka R; Kerényi, Adrienne A; Kállai, Judit J; Pfliegler, György G; Schlammadinger, Ágota Á; Szegedi, István I; Major, Tamás T; Szabó, Zsuzsanna Z; Bagoly, Zsuzsa Z; Kiss, Csongor C; Kappelmayer, János J; Bereczky, Zsuzsanna Z
Publication Date: 2021-03-05

Variant appearance in text: rs6046
PubMed Link: 33807613
Variant Present in the following documents:
  • Main text
  • life-11-00202.pdf
View BVdb publication page



Risk of Recurrent Pregnancy Loss in the Ukrainian Population Using a Combined Effect of Genetic Variants: A Case-Control Study.

Genes
Loizidou, Eleni M EM; Kucherenko, Anastasia A; Tatarskyy, Pavlo P; Chernushyn, Sergey S; Livshyts, Ganna G; Gulkovskyi, Roman R; Vorobiova, Iryna I; Antipkin, Yurii Y; Gorodna, Oleksandra O; Kaakinen, Marika A MA; Prokopenko, Inga I; Livshits, Ludmila L
Publication Date: 2021-01-05

Variant appearance in text: rs6046
PubMed Link: 33466305
Variant Present in the following documents:
  • Main text
  • genes-12-00064.pdf
View BVdb publication page



Implementation of a Renal Precision Medicine Program: Clinician Attitudes and Acceptance.

Life (Basel, Switzerland)
Spiech, Katherine M KM; Tripathy, Purnima R PR; Woodcock, Alex M AM; Sheth, Nehal A NA; Collins, Kimberly S KS; Kannegolla, Karthik K; Sinha, Arjun D AD; Sharfuddin, Asif A AA; Pratt, Victoria M VM; Khalid, Myda M; Hains, David S DS; Moe, Sharon M SM; Skaar, Todd C TC; Moorthi, Ranjani N RN; Eadon, Michael T MT
Publication Date: 2020-03-26

Variant appearance in text: rs6046
PubMed Link: 32224869
Variant Present in the following documents:
  • Main text
  • life-10-00032.pdf
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs6046
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Introducing the first whole genomes of nationals from the United Arab Emirates.

Scientific Reports
AlSafar, Habiba S HS; Al-Ali, Mariam M; Elbait, Gihan Daw GD; Al-Maini, Mustafa H MH; Ruta, Dymitr D; Peramo, Braulio B; Henschel, Andreas A; Tay, Guan K GK
Publication Date: 2019-10-11

Variant appearance in text: rs6046
PubMed Link: 31604968
Variant Present in the following documents:
  • 41598_2019_50876_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Next-generation sequencing and recombinant expression characterized aberrant splicing mechanisms and provided correction strategies in factor VII deficiency.

Haematologica
Ferraresi, Paolo P; Balestra, Dario D; Guittard, Caroline C; Buthiau, Delphine D; Pan-Petesh, Brigitte B; Maestri, Iva I; Farah, Roula R; Pinotti, Mirko M; Giansily-Blaizot, Muriel M
Publication Date: 2020-03

Variant appearance in text: rs6046
PubMed Link: 31273093
Variant Present in the following documents:
  • Main text
  • 1050829.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs6046
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Sex-Specific Genetic Susceptibility to Adverse Neurodevelopmental Outcome in Offspring of Pregnancies at Risk of Early Preterm Delivery.

American Journal Of Perinatology
Varner, Michael W MW; Costantine, Maged M MM; Jablonski, Kathleen A KA; Rouse, Dwight J DJ; Mercer, Brian M BM; Leveno, Kenneth J KJ; Reddy, Uma M UM; Buhimschi, Catalin C; Wapner, Ronald J RJ; Sorokin, Yoram Y; Thorp, John M JM; Ramin, Susan M SM; Malone, Fergal D FD; Carpenter, Marshall M; O'sullivan, Mary J MJ; Peaceman, Alan M AM; Dudley, Donald J DJ; Caritis, Steve N SN; ,
Publication Date: 2020-02

Variant appearance in text: rs6046
PubMed Link: 30731481
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analytical validity of a genotyping assay for use with personalized antihypertensive and chronic kidney disease therapy.

Pharmacogenetics And Genomics
Collins, Kimberly S KS; Pratt, Victoria M VM; Stansberry, Wesley M WM; Medeiros, Elizabeth B EB; Kannegolla, Karthik K; Swart, Marelize M; Skaar, Todd C TC; Chapman, Arlene B AB; Decker, Brian S BS; Moorthi, Ranjani N RN; Eadon, Michael T MT
Publication Date: 2019-01

Variant appearance in text: rs6046
PubMed Link: 30489456
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphism of R353Q (rs6046) in factor VII and the risk of myocardial infarction: A systematic review and meta-analysis.

Medicine
Huang, Haoming H; Long, Wenjie W; Zhao, Weixuan W; Zou, Ling L; Song, Yudi Y; Zuo, Junling J; Yang, Zhongqi Z
Publication Date: 2018-09

Variant appearance in text: rs6046
PubMed Link: 30278561
Variant Present in the following documents:
  • Main text
  • medi-97-e12566.pdf
View BVdb publication page



Pharmacogenomic studies of hypertension: paving the way for personalized antihypertensive treatment.

Expert Review Of Precision Medicine And Drug Development
Eadon, Michael T MT; Kanuri, Sri H SH; Chapman, Arlene B AB
Publication Date: 2018

Variant appearance in text: rs6046
PubMed Link: 29888336
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics
Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,
Publication Date: 2018-03-06

Variant appearance in text: rs6046
PubMed Link: 29510755
Variant Present in the following documents:
  • 12920_2018_338_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Variation, Magnesium Sulfate Exposure, and Adverse Neurodevelopmental Outcomes Following Preterm Birth.

American Journal Of Perinatology
Clark, Erin A S EAS; Weiner, Steven J SJ; Rouse, Dwight J DJ; Mercer, Brian M BM; Reddy, Uma M UM; Iams, Jay D JD; Wapner, Ronald J RJ; Sorokin, Yoram Y; Malone, Fergal D FD; O'Sullivan, Mary J MJ; Peaceman, Alan M AM; Hankins, Gary D V GDV; Dudley, Donald J DJ; Caritis, Steve N SN; ,
Publication Date: 2018-08

Variant appearance in text: rs6046
PubMed Link: 29510423
Variant Present in the following documents:
  • Main text
View BVdb publication page



Associations of activated coagulation factor VII and factor VIIa-antithrombin levels with genome-wide polymorphisms and cardiovascular disease risk.

Journal Of Thrombosis And Haemostasis : Jth
Olson, N C NC; Raffield, L M LM; Lange, L A LA; Lange, E M EM; Longstreth, W T WT; Chauhan, G G; Debette, S S; Seshadri, S S; Reiner, A P AP; Tracy, R P RP
Publication Date: 2018-01

Variant appearance in text: rs6046
PubMed Link: 29112333
Variant Present in the following documents:
  • Main text
View BVdb publication page



Candidate SNP Markers of Familial and Sporadic Alzheimer's Diseases Are Predicted by a Significant Change in the Affinity of TATA-Binding Protein for Human Gene Promoters.

Frontiers In Aging Neuroscience
Ponomarenko, Petr P; Chadaeva, Irina I; Rasskazov, Dmitry A DA; Sharypova, Ekaterina E; Kashina, Elena V EV; Drachkova, Irina I; Zhechev, Dmitry D; Ponomarenko, Mikhail P MP; Savinkova, Ludmila K LK; Kolchanov, Nikolay N
Publication Date: 2017

Variant appearance in text: rs6046
PubMed Link: 28775688
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inherited Variation in Cytokine, Acute Phase Response, and Calcium Metabolism Genes Affects Susceptibility to Infective Endocarditis.

Mediators Of Inflammation
Ponasenko, Anastasia V AV; Kutikhin, Anton G AG; Khutornaya, Maria V MV; Rutkovskaya, Natalia V NV; Kondyukova, Natalia V NV; Odarenko, Yuri N YN; Kazachek, Yana V YV; Tsepokina, Anna V AV; Barbarash, Leonid S LS; Yuzhalin, Arseniy E AE
Publication Date: 2017

Variant appearance in text: rs6046
PubMed Link: 28659664
Variant Present in the following documents:
  • Main text
  • MI2017-7962546.pdf
View BVdb publication page



Warfarin Dose Model for the Prediction of Stable Maintenance Dose in Indian Patients.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis
Gaikwad, Tejasvita T; Ghosh, Kanjaksha K; Avery, Peter P; Kamali, Farhad F; Shetty, Shrimati S
Publication Date: 2018-03

Variant appearance in text: rs6046
PubMed Link: 28049362
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Genomics-Based Model for Prediction of Severe Bioprosthetic Mitral Valve Calcification.

International Journal Of Molecular Sciences
Ponasenko, Anastasia V AV; Khutornaya, Maria V MV; Kutikhin, Anton G AG; Rutkovskaya, Natalia V NV; Tsepokina, Anna V AV; Kondyukova, Natalia V NV; Yuzhalin, Arseniy E AE; Barbarash, Leonid S LS
Publication Date: 2016-08-31

Variant appearance in text: rs6046
PubMed Link: 27589735
Variant Present in the following documents:
  • Main text
  • ijms-17-01385.pdf
View BVdb publication page



Exome-wide Association Study Identifies CLEC3B Missense Variant p.S106G as Being Associated With Extreme Longevity in East Asian Populations.

The Journals Of Gerontology. Series A, Biological Sciences And Medical Sciences
Tanisawa, Kumpei K; Arai, Yasumichi Y; Hirose, Nobuyoshi N; Shimokata, Hiroshi H; Yamada, Yoshiji Y; Kawai, Hisashi H; Kojima, Motonaga M; Obuchi, Shuichi S; Hirano, Hirohiko H; Yoshida, Hideyo H; Suzuki, Hiroyuki H; Fujiwara, Yoshinori Y; Ihara, Kazushige K; Sugaya, Maki M; Arai, Tomio T; Mori, Seijiro S; Sawabe, Motoji M; Sato, Noriko N; Muramatsu, Masaaki M; Higuchi, Mitsuru M; Liu, Yao-Wen YW; Kong, Qing-Peng QP; Tanaka, Masashi M
Publication Date: 2017-03-01

Variant appearance in text: rs6046
PubMed Link: 27154906
Variant Present in the following documents:
  • glw074_suppl_20160228_jgbs_2015_218r1_supplemantary_tables.xlsx, sheet 3
View BVdb publication page



The effects of genes implicated in cardiovascular disease on blood pressure response to treatment among treatment-naive hypertensive African Americans in the GenHAT study.

Journal Of Human Hypertension
Do, A N AN; Lynch, A I AI; Claas, S A SA; Boerwinkle, E E; Davis, B R BR; Ford, C E CE; Eckfeldt, J H JH; Tiwari, H K HK; Arnett, D K DK; Irvin, M R MR
Publication Date: 2016-09

Variant appearance in text: rs6046
PubMed Link: 26791477
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs6046
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Can Genetic Analysis of Putative Blood Alzheimer's Disease Biomarkers Lead to Identification of Susceptibility Loci?

Plos One
Barber, Robert C RC; Phillips, Nicole R NR; Tilson, Jeffrey L JL; Huebinger, Ryan M RM; Shewale, Shantanu J SJ; Koenig, Jessica L JL; Mitchel, Jeffrey S JS; O'Bryant, Sid E SE; Waring, Stephen C SC; Diaz-Arrastia, Ramon R; Chasse, Scott S; Wilhelmsen, Kirk C KC; , ; ,
Publication Date: 2015

Variant appearance in text: rs6046
PubMed Link: 26625115
Variant Present in the following documents:
  • Main text
  • pone.0142360.pdf
View BVdb publication page



Association of genetic variants with coronary artery disease and ischemic stroke in a longitudinal population-based genetic epidemiological study.

Biomedical Reports
Yamada, Yoshiji Y; Matsui, Kota K; Takeuchi, Ichiro I; Fujimaki, Tetsuo T
Publication Date: 2015-05

Variant appearance in text: rs6046
PubMed Link: 26137247
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of genetic variants of the α-kinase 1 gene with type 2 diabetes mellitus in a longitudinal population-based genetic epidemiological study.

Biomedical Reports
Yamada, Yoshiji Y; Matsui, Kota K; Takeuchi, Ichiro I; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T
Publication Date: 2015-05

Variant appearance in text: rs6046
PubMed Link: 26137234
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare and low-frequency variants and their association with plasma levels of fibrinogen, FVII, FVIII, and vWF.

Blood
Huffman, Jennifer E JE; de Vries, Paul S PS; Morrison, Alanna C AC; Sabater-Lleal, Maria M; Kacprowski, Tim T; Auer, Paul L PL; Brody, Jennifer A JA; Chasman, Daniel I DI; Chen, Ming-Huei MH; Guo, Xiuqing X; Lin, Li-An LA; Marioni, Riccardo E RE; Müller-Nurasyid, Martina M; Yanek, Lisa R LR; Pankratz, Nathan N; Grove, Megan L ML; de Maat, Moniek P M MP; Cushman, Mary M; Wiggins, Kerri L KL; Qi, Lihong L; Sennblad, Bengt B; Harris, Sarah E SE; Polasek, Ozren O; Riess, Helene H; Rivadeneira, Fernando F; Rose, Lynda M LM; Goel, Anuj A; Taylor, Kent D KD; Teumer, Alexander A; Uitterlinden, André G AG; Vaidya, Dhananjay D; Yao, Jie J; Tang, Weihong W; Levy, Daniel D; Waldenberger, Melanie M; Becker, Diane M DM; Folsom, Aaron R AR; Giulianini, Franco F; Greinacher, Andreas A; Hofman, Albert A; Huang, Chiang-Ching CC; Kooperberg, Charles C; Silveira, Angela A; Starr, John M JM; Strauch, Konstantin K; Strawbridge, Rona J RJ; Wright, Alan F AF; McKnight, Barbara B; Franco, Oscar H OH; Zakai, Neil N; Mathias, Rasika A RA; Psaty, Bruce M BM; Ridker, Paul M PM; Tofler, Geoffrey H GH; Völker, Uwe U; Watkins, Hugh H; Fornage, Myriam M; Hamsten, Anders A; Deary, Ian J IJ; Boerwinkle, Eric E; Koenig, Wolfgang W; Rotter, Jerome I JI; Hayward, Caroline C; Dehghan, Abbas A; Reiner, Alex P AP; O'Donnell, Christopher J CJ; Smith, Nicholas L NL
Publication Date: 2015-09-10

Variant appearance in text: rs6046
PubMed Link: 26105150
Variant Present in the following documents:
  • Main text
View BVdb publication page



Warfarin dose requirement in Turkish patients: the influences of patient characteristics and polymorphisms in CYP2C9, VKORC1 and factor VII.

Hippokratia
Yildirim, E E; Erol, K K; Birdane, A A
Publication Date: 2014

Variant appearance in text: rs6046
PubMed Link: 26052198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Networks in Coronary Heart Disease Genetics As a Step towards Systems Epidemiology.

Plos One
Drenos, Fotios F; Grossi, Enzo E; Buscema, Massimo M; Humphries, Steve E SE
Publication Date: 2015

Variant appearance in text: rs6046
PubMed Link: 25951190
Variant Present in the following documents:
  • Main text
  • pone.0125876.pdf
View BVdb publication page



Association of genetic variants with dyslipidemia and chronic kidney disease in a longitudinal population-based genetic epidemiological study.

International Journal Of Molecular Medicine
Yamada, Yoshiji Y; Matsui, Kota K; Takeuchi, Ichiro I; Fujimaki, Tetsuo T
Publication Date: 2015-05

Variant appearance in text: rs6046
PubMed Link: 25813695
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of genetic variants with hypertension in a longitudinal population-based genetic epidemiological study.

International Journal Of Molecular Medicine
Yamada, Yoshiji Y; Matsui, Kota K; Takeuchi, Ichiro I; Oguri, Mitsutoshi M; Fujimaki, Tetsuo T
Publication Date: 2015-05

Variant appearance in text: rs6046
PubMed Link: 25813534
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of CVD candidate gene polymorphisms with ischemic stroke and cerebral hemorrhage in Chinese individuals.

Plos One
Ou, Wenjing W; Liu, Xin X; Shen, Yue Y; Li, Jiana J; He, Lingbin L; Yuan, Yuan Y; Tan, Xuerui X; Liu, Lisheng L; Zhao, Jingbo J; Wang, Xingyu X
Publication Date: 2014

Variant appearance in text: rs6046
PubMed Link: 25144711
Variant Present in the following documents:
  • Main text
  • pone.0105516.pdf
View BVdb publication page



NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: rs6046
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
View BVdb publication page



Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.

Human Genetics
Cooper, David N DN; Krawczak, Michael M; Polychronakos, Constantin C; Tyler-Smith, Chris C; Kehrer-Sawatzki, Hildegard H
Publication Date: 2013-10

Variant appearance in text: rs6046
PubMed Link: 23820649
Variant Present in the following documents:
  • Main text
View BVdb publication page



Epistatic study reveals two genetic interactions in blood pressure regulation.

Bmc Medical Genetics
Ndiaye, Ndeye Coumba NC; Said, El Shamieh el S; Stathopoulou, Maria G MG; Siest, Gérard G; Tsai, Michael Y MY; Visvikis-Siest, Sophie S
Publication Date: 2013-01-08

Variant appearance in text: rs6046
PubMed Link: 23298194
Variant Present in the following documents:
  • Main text
View BVdb publication page



Personalized approach of medication by indirect anticoagulants tailored to the patient-Russian context: what are the prospects?

The Epma Journal
Belozerceva, Liliya Alexandrovna LA; Voronina, Elena Nikolaevna EN; Kokh, Natalia Viktorovna NV; Tsvetovskay, Galina Alexandrovna GA; Momot, Andrei Pavlovich AP; Lifshits, Galina Israilevna GI; Filipenko, Maxim Leonidovich ML; Shevela, Andrei Ivanovich AI; Vlasov, Valentin Viktorovich VV
Publication Date: 2012-09-27

Variant appearance in text: rs6046
PubMed Link: 23016735
Variant Present in the following documents:
  • Main text
  • 1878-5085-3-10.pdf
View BVdb publication page



Functional epistatic interaction between rs6046G>A in F7 and rs5355C>T in SELE modifies systolic blood pressure levels.

Plos One
El Shamieh, Said S; Ndiaye, Ndeye Coumba NC; Stathopoulou, Maria G MG; Murray, Helena A HA; Masson, Christine C; Lamont, John V JV; Fitzgerald, Peter P; Benetos, Athanase A; Visvikis-Siest, Sophie S
Publication Date: 2012

Variant appearance in text: rs6046
PubMed Link: 22815813
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.

American Journal Of Human Genetics
Tang, Weihong W; Schwienbacher, Christine C; Lopez, Lorna M LM; Ben-Shlomo, Yoav Y; Oudot-Mellakh, Tiphaine T; Johnson, Andrew D AD; Samani, Nilesh J NJ; Basu, Saonli S; Gögele, Martin M; Davies, Gail G; Lowe, Gordon D O GD; Tregouet, David-Alexandre DA; Tan, Adrian A; Pankow, James S JS; Tenesa, Albert A; Levy, Daniel D; Volpato, Claudia B CB; Rumley, Ann A; Gow, Alan J AJ; Minelli, Cosetta C; Yarnell, John W G JW; Porteous, David J DJ; Starr, John M JM; Gallacher, John J; Boerwinkle, Eric E; Visscher, Peter M PM; Pramstaller, Peter P PP; Cushman, Mary M; Emilsson, Valur V; Plump, Andrew S AS; Matijevic, Nena N; Morange, Pierre-Emmanuel PE; Deary, Ian J IJ; Hicks, Andrew A AA; Folsom, Aaron R AR
Publication Date: 2012-07-13

Variant appearance in text: rs6046
PubMed Link: 22703881
Variant Present in the following documents:
  • Main text
View BVdb publication page



Relationships of plasma factor VIIa-antithrombin complexes to manifest and future cardiovascular disease.

Thrombosis Research
Silveira, Angela A; Scanavini, Daniela D; Boquist, Susanna S; Ericsson, Carl-Göran CG; Hellénius, Mai-Lis ML; Leander, Karin K; de Faire, Ulf U; Ohrvik, John J; Woodhams, Barry B; Morrissey, James H JH; Hamsten, Anders A
Publication Date: 2012-08

Variant appearance in text: rs6046
PubMed Link: 21925715
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Multilocus association testing with penalized regression.

Genetic Epidemiology
Basu, Saonli S; Pan, Wei W; Shen, Xiaotong X; Oetting, William S WS
Publication Date: 2011-12

Variant appearance in text: rs6046
PubMed Link: 21922539
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Genetic variants and susceptibility to neurological complications following West Nile virus infection.

The Journal Of Infectious Diseases
Loeb, Mark M; Eskandarian, Sasha S; Rupp, Mark M; Fishman, Neil N; Gasink, Leanne L; Patterson, Jan J; Bramson, Jonathan J; Hudson, Thomas J TJ; Lemire, Mathieu M
Publication Date: 2011-10-01

Variant appearance in text: rs6046
PubMed Link: 21881118
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Association between polymorphisms in the coagulation factor VII gene and coronary heart disease risk in different ethnicities: a meta-analysis.

Bmc Medical Genetics
Mo, Xingbo X; Hao, Yongchen Y; Yang, Xueli X; Chen, Shufeng S; Lu, Xiangfeng X; Gu, Dongfeng D
Publication Date: 2011-08-12

Variant appearance in text: rs6046
PubMed Link: 21838885
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  • 1471-2350-12-107.pdf
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A gene-centric association scan for Coagulation Factor VII levels in European and African Americans: the Candidate Gene Association Resource (CARe) Consortium.

Human Molecular Genetics
Taylor, Kira C KC; Lange, Leslie A LA; Zabaneh, Delilah D; Lange, Ethan E; Keating, Brendan J BJ; Tang, Weihong W; Smith, Nicholas L NL; Delaney, Joseph A JA; Kumari, Meena M; Hingorani, Aroon A; North, Kari E KE; Kivimaki, Mika M; Tracy, Russell P RP; O'Donnell, Christopher J CJ; Folsom, Aaron R AR; Green, David D; Humphries, Steve E SE; Reiner, Alexander P AP
Publication Date: 2011-09-01

Variant appearance in text: rs6046
PubMed Link: 21676895
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Association of coagulation-related and inflammation-related genes and factor VIIc levels with stroke: the Cardiovascular Health Study.

Journal Of Thrombosis And Haemostasis : Jth
Zakai, N A NA; Lange, L L; Longstreth, W T WT; O'Meara, E S ES; Kelley, J L JL; Fornage, M M; Nikerson, D D; Cushman, M M; Reiner, A P AP
Publication Date: 2011-02

Variant appearance in text: rs6046
PubMed Link: 21114618
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Haplotype and genotype effects of the F7 gene on circulating factor VII, coagulation activation markers and incident coronary heart disease in UK men.

Journal Of Thrombosis And Haemostasis : Jth
Ken-Dror, G G; Drenos, F F; Humphries, S E SE; Talmud, P J PJ; Hingorani, A D AD; Kivimäki, M M; Kumari, M M; Bauer, K A KA; Morrissey, J H JH; Ireland, H A HA
Publication Date: 2010-11

Variant appearance in text: rs6046
PubMed Link: 20735728
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Association of fetal inflammation and coagulation pathway gene polymorphisms with neurodevelopmental delay at age 2 years.

American Journal Of Obstetrics And Gynecology
Clark, Erin A S EA; Mele, Lisa L; Wapner, Ronald J RJ; Spong, Catherine Y CY; Sorokin, Yoram Y; Peaceman, Alan A; Iams, Jay D JD; Leveno, Kenneth J KJ; Harper, Margaret M; Caritis, Steve N SN; Miodovnik, Menachem M; Mercer, Brian M BM; Thorp, John M JM; Ramin, Susan M SM; Carpenter, Marshall M; Rouse, Dwight J DJ; ,
Publication Date: 2010-07

Variant appearance in text: rs6046
PubMed Link: 20417488
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An evaluation of candidate genes of inflammation and thrombosis in relation to the risk of venous thromboembolism: The Women's Genome Health Study.

Circulation. Cardiovascular Genetics
Zee, Robert Y L RY; Glynn, Robert J RJ; Cheng, Suzanne S; Steiner, Lori L; Rose, Lynda L; Ridker, Paul M PM
Publication Date: 2009-02

Variant appearance in text: rs6046
PubMed Link: 20031567
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Association of congenital cardiovascular malformations with 33 single nucleotide polymorphisms of selected cardiovascular disease-related genes.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Kuehl, Karen K; Loffredo, Christopher C; Lammer, Edward J EJ; Iovannisci, David M DM; Shaw, Gary M GM
Publication Date: 2010-02

Variant appearance in text: rs6046
PubMed Link: 19764075
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A candidate gene association study of 77 polymorphisms in migraine.

The Journal Of Pain
Schürks, Markus M; Kurth, Tobias T; Buring, Julie E JE; Zee, Robert Y L RY
Publication Date: 2009-07

Variant appearance in text: rs6046
PubMed Link: 19559392
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Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hindorff, Lucia A LA; Sethupathy, Praveen P; Junkins, Heather A HA; Ramos, Erin M EM; Mehta, Jayashri P JP; Collins, Francis S FS; Manolio, Teri A TA
Publication Date: 2009-06-09

Variant appearance in text: rs6046
PubMed Link: 19474294
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The effect of nine common polymorphisms in coagulation factor genes (F2, F5, F7, F12 and F13 ) on the effectiveness of statins: the GenHAT study.

Pharmacogenetics And Genomics
Maitland-van der Zee, Anke-Hilse AH; Peters, Bas J M BJ; Lynch, Amy I AI; Boerwinkle, Eric E; Arnett, Donna K DK; Cheng, Suzanne S; Davis, Barry R BR; Leiendecker-Foster, Catherine C; Ford, Charles E CE; Eckfeldt, John H JH
Publication Date: 2009-05

Variant appearance in text: rs6046
PubMed Link: 19415820
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Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Human Molecular Genetics
Drenos, Fotios F; Talmud, Philippa J PJ; Casas, Juan P JP; Smeeth, Liam L; Palmen, Jutta J; Humphries, Steve E SE; Hingorani, Aroon D AD
Publication Date: 2009-06-15

Variant appearance in text: rs6046
PubMed Link: 19336475
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Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study.

Journal Of Hypertension
Conen, David D; Cheng, Suzanne S; Steiner, Lori L LL; Buring, Julie E JE; Ridker, Paul M PM; Zee, Robert Y L RY
Publication Date: 2009-03

Variant appearance in text: rs6046
PubMed Link: 19330901
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Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Zee, Robert Y L RY; Bubes, Vadim V; Shrivastava, Sanjay S; Ridker, Paul M PM; Glynn, Robert J RJ
Publication Date: 2009-04

Variant appearance in text: rs6046
PubMed Link: 19263529
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A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.

Stroke
Wang, Xingyu X; Cheng, Suzanne S; Brophy, Victoria H VH; Erlich, Henry A HA; Mannhalter, Christine C; Berger, Klaus K; Lalouschek, Wolfgang W; Browner, Warren S WS; Shi, Yu Y; Ringelstein, E Bernd EB; Kessler, Christof C; Luedemann, Jan J; Lindpaintner, Klaus K; Liu, Lisheng L; Ridker, Paul M PM; Zee, Robert Y L RY; Cook, Nancy R NR; ,
Publication Date: 2009-03

Variant appearance in text: rs6046
PubMed Link: 19131662
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New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

Bmc Bioinformatics
Penco, Silvana S; Buscema, Massimo M; Patrosso, Maria Cristina MC; Marocchi, Alessandro A; Grossi, Enzo E
Publication Date: 2008-05-30

Variant appearance in text: rs6046
PubMed Link: 18513389
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Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study.

Bmc Medical Genetics
Yang, Qiong Q; Kathiresan, Sekar S; Lin, Jing-Ping JP; Tofler, Geoffrey H GH; O'Donnell, Christopher J CJ
Publication Date: 2007-09-19

Variant appearance in text: rs6046
PubMed Link: 17903294
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Association of warfarin dose with genes involved in its action and metabolism.

Human Genetics
Wadelius, Mia M; Chen, Leslie Y LY; Eriksson, Niclas N; Bumpstead, Suzannah S; Ghori, Jilur J; Wadelius, Claes C; Bentley, David D; McGinnis, Ralph R; Deloukas, Panos P
Publication Date: 2007-03

Variant appearance in text: rs6046
PubMed Link: 17048007
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  • 439_2006_Article_260.pdf
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