Variant ID: 13-113773159-G-C

NM_000131.4(F7):c.1238G>C;(p.Arg413Pro)

This variant was identified in 66 publications




Publications:


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

Life (Basel, Switzerland)
KM Spiech, PR Tripathy, AM Woodcock, NA Sheth, KS Collins, K Kannegolla, AD Sinha, AA Sharfuddin, VM Pratt, M Khalid, DS Hains, SM Moe, TC Skaar, RN Moorthi, MT Eadon
Publication Date: 2020-03-26

Variant appearance in text: rs6046
PubMed Link: 32224869
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Scientific Reports
HS AlSafar, M Al-Ali, GD Elbait, MH Al-Maini, D Ruta, B Peramo, A Henschel, GK Tay
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
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
MW Varner, MM Costantine, KA Jablonski, DJ Rouse, BM Mercer, KJ Leveno, UM Reddy, C Buhimschi, RJ Wapner, Y Sorokin, JM Thorp, SM Ramin, FD Malone, M Carpenter, MJ O'sullivan, AM Peaceman, DJ Dudley, SN Caritis,
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
KS Collins, VM Pratt, WM Stansberry, EB Medeiros, K Kannegolla, M Swart, TC Skaar, AB Chapman, BS Decker, RN Moorthi, MT Eadon
Publication Date: 2019-01

Variant appearance in text: rs6046
PubMed Link: 30489456
Variant Present in the following documents:
  • Main text
  • nihms-1512061.pdf
  • NIHMS1512061-supplement-Supplemental_Table_1.docx
View BVdb publication page



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

Medicine
H Huang, W Long, W Zhao, L Zou, Y Song, J Zuo, Z Yang
Publication Date: 2018-09

Variant appearance in text: rs6046
PubMed Link: 30278561
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Expert Review Of Precision Medicine And Drug Development
MT Eadon, SH Kanuri, AB Chapman
Publication Date: 2018

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



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

American Journal Of Perinatology
EAS Clark, SJ Weiner, DJ Rouse, BM Mercer, UM Reddy, JD Iams, RJ Wapner, Y Sorokin, FD Malone, MJ O'Sullivan, AM Peaceman, GDV Hankins, DJ Dudley, SN Caritis,
Publication Date: 2018-08

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



Expanded carrier screening and preimplantation genetic diagnosis in a couple who delivered a baby affected with congenital factor VII deficiency.

Bmc Medical Genetics
WB He, YQ Tan, X Hu, W Li, B Xiong, KL Luo, F Gong, GX Lu, G Lin, J Du
Publication Date: 2018-01-24

Variant appearance in text: F7: 1238G>C
PubMed Link: 29368589
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
NC Olson, LM Raffield, LA Lange, EM Lange, WT Longstreth, G Chauhan, S Debette, S Seshadri, AP Reiner, RP Tracy
Publication Date: 2018-01

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



Association between kidney function and genetic polymorphisms in atherosclerotic and chronic kidney diseases: A cross-sectional study in Japanese male workers.

Plos One
Y Kubo, T Imaizumi, M Ando, M Nakatochi, Y Yasuda, H Honda, Y Kuwatsuka, S Kato, K Kikuchi, T Kondo, M Iwata, T Nakashima, H Yasui, H Takamatsu, H Okajima, Y Yoshida, S Maruyama
Publication Date: 2017

Variant appearance in text: rs6046
PubMed Link: 29016630
Variant Present in the following documents:
  • pone.0185476.s001.docx
  • pone.0185476.s002.docx
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
P Ponomarenko, I Chadaeva, DA Rasskazov, E Sharypova, EV Kashina, I Drachkova, D Zhechev, MP Ponomarenko, LK Savinkova, N Kolchanov
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
AV Ponasenko, AG Kutikhin, MV Khutornaya, NV Rutkovskaya, NV Kondyukova, YN Odarenko, YV Kazachek, AV Tsepokina, LS Barbarash, AE Yuzhalin
Publication Date: 2017

Variant appearance in text: rs6046
PubMed Link: 28659664
Variant Present in the following documents:
  • Main text
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
T Gaikwad, K Ghosh, P Avery, F Kamali, S Shetty
Publication Date: 2018-03

Variant appearance in text: rs6046
PubMed Link: 28049362
Variant Present in the following documents:
  • 10.1177_1076029616683046.pdf
  • aaaaaMain text
  • supplementary_file.pdf
View BVdb publication page



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

International Journal Of Molecular Sciences
AV Ponasenko, MV Khutornaya, AG Kutikhin, NV Rutkovskaya, AV Tsepokina, NV Kondyukova, AE Yuzhalin, LS Barbarash
Publication Date: 2016-08-31

Variant appearance in text: rs6046
PubMed Link: 27589735
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD.

Plos Genetics
W Sun, K Kechris, S Jacobson, MB Drummond, GA Hawkins, J Yang, TH Chen, PM Quibrera, W Anderson, RG Barr, PV Basta, ER Bleecker, T Beaty, R Casaburi, P Castaldi, MH Cho, A Comellas, JD Crapo, G Criner, D Demeo, SA Christenson, DJ Couper, JL Curtis, CM Doerschuk, CM Freeman, NA Gouskova, MK Han, NA Hanania, NN Hansel, CP Hersh, EA Hoffman, RJ Kaner, RE Kanner, EC Kleerup, S Lutz, FJ Martinez, DA Meyers, SP Peters, EA Regan, SI Rennard, MB Scholand, EK Silverman, PG Woodruff, WK O'Neal, RP Bowler, ,
Publication Date: 2016-08

Variant appearance in text: rs6046
PubMed Link: 27532455
Variant Present in the following documents:
  • pgen.1006011.s004.xlsx
  • pgen.1006011.s008.xls
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
K Tanisawa, Y Arai, N Hirose, H Shimokata, Y Yamada, H Kawai, M Kojima, S Obuchi, H Hirano, H Yoshida, H Suzuki, Y Fujiwara, K Ihara, M Sugaya, T Arai, S Mori, M Sawabe, N Sato, M Muramatsu, M Higuchi, YW Liu, QP Kong, M Tanaka
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
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
AN Do, AI Lynch, SA Claas, E Boerwinkle, BR Davis, CE Ford, JH Eckfeldt, HK Tiwari, DK Arnett, MR Irvin
Publication Date: 2016-09

Variant appearance in text: rs6046
PubMed Link: 26791477
Variant Present in the following documents:
  • Main text
  • NIHMS731953-supplement-2.pdf
  • NIHMS731953-supplement-3.pdf
View BVdb publication page



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

Plos One
RC Barber, NR Phillips, JL Tilson, RM Huebinger, SJ Shewale, JL Koenig, JS Mitchel, SE O'Bryant, SC Waring, R Diaz-Arrastia, S Chasse, KC Wilhelmsen, ,
Publication Date: 2015

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



Proinflammatory genotype is associated with the frailty phenotype in the English Longitudinal Study of Ageing.

Aging Clinical And Experimental Research
K Mekli, JY Nazroo, AD Marshall, M Kumari, N Pendleton
Publication Date: 2016-06

Variant appearance in text: rs6046
PubMed Link: 26248682
Variant Present in the following documents:
  • 40520_2015_419_MOESM2_ESM.xlsx
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
Y Yamada, K Matsui, I Takeuchi, T Fujimaki
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
Y Yamada, K Matsui, I Takeuchi, M Oguri, T Fujimaki
Publication Date: 2015-05

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



Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Genome Biology
Publication Date: 2015-06-26

Variant appearance in text: rs6046
PubMed Link: 26112015
Variant Present in the following documents:
  • 13059_2015_693_MOESM3_ESM.xls
View BVdb publication page



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

Blood
JE Huffman, PS de Vries, AC Morrison, M Sabater-Lleal, T Kacprowski, PL Auer, JA Brody, DI Chasman, MH Chen, X Guo, LA Lin, RE Marioni, M Müller-Nurasyid, LR Yanek, N Pankratz, ML Grove, MP de Maat, M Cushman, KL Wiggins, L Qi, B Sennblad, SE Harris, O Polasek, H Riess, F Rivadeneira, LM Rose, A Goel, KD Taylor, A Teumer, AG Uitterlinden, D Vaidya, J Yao, W Tang, D Levy, M Waldenberger, DM Becker, AR Folsom, F Giulianini, A Greinacher, A Hofman, CC Huang, C Kooperberg, A Silveira, JM Starr, K Strauch, RJ Strawbridge, AF Wright, B McKnight, OH Franco, N Zakai, RA Mathias, BM Psaty, PM Ridker, GH Tofler, U Völker, H Watkins, M Fornage, A Hamsten, IJ Deary, E Boerwinkle, W Koenig, JI Rotter, C Hayward, A Dehghan, AP Reiner, CJ O'Donnell, NL Smith
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
E Yildirim, K Erol, A Birdane
Publication Date: 2014

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



Evidence for Clinical Implementation of Pharmacogenomics in Cardiac Drugs.

Mayo Clinic Proceedings
AL Kaufman, J Spitz, M Jacobs, M Sorrentino, S Yuen, K Danahey, D Saner, TE Klein, RB Altman, MJ Ratain, PH O'Donnell
Publication Date: 2015-06

Variant appearance in text: rs6046
PubMed Link: 26046407
Variant Present in the following documents:
  • NIHMS676556-supplement-4.pdf
View BVdb publication page



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

Plos One
F Drenos, E Grossi, M Buscema, SE Humphries
Publication Date: 2015

Variant appearance in text: rs6046
PubMed Link: 25951190
Variant Present in the following documents:
  • Main text
  • pone.0125876.s006.xlsx
  • pone.0125876.s007.xlsx
  • pone.0125876.s008.xlsx
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
Y Yamada, K Matsui, I Takeuchi, T Fujimaki
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
Y Yamada, K Matsui, I Takeuchi, M Oguri, T Fujimaki
Publication Date: 2015-05

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



Identification of an interaction between VWF rs7965413 and platelet count as a novel risk marker for metabolic syndrome: an extensive search of candidate polymorphisms in a case-control study.

Plos One
M Nakatochi, Y Ushida, Y Yasuda, Y Yoshida, S Kawai, R Kato, T Nakashima, M Iwata, Y Kuwatsuka, M Ando, N Hamajima, T Kondo, H Oda, M Hayashi, S Kato, M Yamaguchi, S Maruyama, S Matsuo, H Honda
Publication Date: 2015

Variant appearance in text: rs6046
PubMed Link: 25646961
Variant Present in the following documents:
  • pone.0117591.s001.docx
  • pone.0117591.s002.xlsx
  • pone.0117591.s003.xlsx
  • pone.0117591.s004.xlsx
View BVdb publication page



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

Plos One
W Ou, X Liu, Y Shen, J Li, L He, Y Yuan, X Tan, L Liu, J Zhao, X Wang
Publication Date: 2014

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



Gene-centric association signals for haemostasis and thrombosis traits identified with the HumanCVD BeadChip.

Thrombosis And Haemostasis
TR Gaunt, D Zabaneh, S Shah, A Guyatt, C Ladroue, M Kumari, F Drenos, T Shah, PJ Talmud, JP Casas, G Lowe, A Rumley, DA Lawlor, M Kivimaki, J Whittaker, AD Hingorani, SE Humphries, IN Day
Publication Date: 2013-11

Variant appearance in text: rs6046
PubMed Link: 24178511
Variant Present in the following documents:
  • NIHMS58613-supplement-Supplementary_Data.doc
View BVdb publication page



Using a multi-staged strategy based on machine learning and mathematical modeling to predict genotype-phenotype risk patterns in diabetic kidney disease: a prospective case-control cohort analysis.

Bmc Nephrology
RK Leung, Y Wang, RC Ma, AO Luk, V Lam, M Ng, WY So, SK Tsui, JC Chan
Publication Date: 2013-07-23

Variant appearance in text: rs6046
PubMed Link: 23879411
Variant Present in the following documents:
  • 1471-2369-14-162-S1.doc
View BVdb publication page



Ischemic stroke is associated with the ABO locus: the EuroCLOT study.

Annals Of Neurology
FM Williams, AM Carter, PG Hysi, G Surdulescu, D Hodgkiss, N Soranzo, M Traylor, S Bevan, M Dichgans, PM Rothwell, C Sudlow, M Farrall, K Silander, M Kaunisto, P Wagner, O Saarela, K Kuulasmaa, J Virtamo, V Salomaa, P Amouyel, D Arveiler, J Ferrieres, PG Wiklund, MA Ikram, A Hofman, GB Boncoraglio, EA Parati, A Helgadottir, S Gretarsdottir, U Thorsteinsdottir, G Thorleifsson, K Stefansson, S Seshadri, A DeStefano, A Gschwendtner, B Psaty, W Longstreth, BD Mitchell, YC Cheng, R Clarke, M Ferrario, JC Bis, C Levi, J Attia, EG Holliday, RJ Scott, M Fornage, P Sharma, KL Furie, J Rosand, M Nalls, J Meschia, TH Mosely, A Evans, A Palotie, HS Markus, PJ Grant, TD Spector, , , , ,
Publication Date: 2013-01

Variant appearance in text: rs6046
PubMed Link: 23381943
Variant Present in the following documents:
  • ana0073-0016-SD1.doc
View BVdb publication page



Epistatic study reveals two genetic interactions in blood pressure regulation.

Bmc Medical Genetics
NC Ndiaye, el S Said, MG Stathopoulou, G Siest, MY Tsai, S Visvikis-Siest
Publication Date: 2013-01-08

Variant appearance in text: rs6046
PubMed Link: 23298194
Variant Present in the following documents:
  • 1471-2350-14-2-S1.doc
  • aaaaaMain 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
LA Belozerceva, EN Voronina, NV Kokh, GA Tsvetovskay, AP Momot, GI Lifshits, ML Filipenko, AI Shevela, VV Vlasov
Publication Date: 2012-09-27

Variant appearance in text: rs6046
PubMed Link: 23016735
Variant Present in the following documents:
  • Main text
View BVdb publication page



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

Plos One
S El Shamieh, NC Ndiaye, MG Stathopoulou, HA Murray, C Masson, JV Lamont, P Fitzgerald, A Benetos, S Visvikis-Siest
Publication Date: 2012

Variant appearance in text: rs6046
PubMed Link: 22815813
Variant Present in the following documents:
  • Main text
  • pone.0040777.s001.doc
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
W Tang, C Schwienbacher, LM Lopez, Y Ben-Shlomo, T Oudot-Mellakh, AD Johnson, NJ Samani, S Basu, M Gögele, G Davies, GD Lowe, DA Tregouet, A Tan, JS Pankow, A Tenesa, D Levy, CB Volpato, A Rumley, AJ Gow, C Minelli, JW Yarnell, DJ Porteous, JM Starr, J Gallacher, E Boerwinkle, PM Visscher, PP Pramstaller, M Cushman, V Emilsson, AS Plump, N Matijevic, PE Morange, IJ Deary, AA Hicks, AR Folsom
Publication Date: 2012-07-13

Variant appearance in text: rs6046
PubMed Link: 22703881
Variant Present in the following documents:
  • Main text
  • mmc1.pdf
  • mmc2.xlsx
View BVdb publication page



A Database of Gene-Environment Interactions Pertaining to Blood Lipid Traits, Cardiovascular Disease and Type 2 Diabetes.

Journal Of Data Mining In Genomics & Proteomics
YC Lee, CQ Lai, JM Ordovas, LD Parnell
Publication Date: 2011-01-01

Variant appearance in text: rs6046
PubMed Link: 22328972
Variant Present in the following documents:
  • NIHMS285264-supplement-Supplementary_Tables.xls
View BVdb publication page



Large-scale gene-centric analysis identifies novel variants for coronary artery disease.

Plos Genetics
Publication Date: 2011-09

Variant appearance in text: rs6046
PubMed Link: 21966275
Variant Present in the following documents:
  • pgen.1002260.s008.pdf
View BVdb publication page



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

Thrombosis Research
A Silveira, D Scanavini, S Boquist, CG Ericsson, ML Hellénius, K Leander, U de Faire, J Ohrvik, B Woodhams, JH Morrissey, A Hamsten
Publication Date: 2012-08

Variant appearance in text: rs6046
PubMed Link: 21925715
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multilocus association testing with penalized regression.

Genetic Epidemiology
S Basu, W Pan, X Shen, WS Oetting
Publication Date: 2011-12

Variant appearance in text: rs6046
PubMed Link: 21922539
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants and susceptibility to neurological complications following West Nile virus infection.

The Journal Of Infectious Diseases
M Loeb, S Eskandarian, M Rupp, N Fishman, L Gasink, J Patterson, J Bramson, TJ Hudson, M Lemire
Publication Date: 2011-10-01

Variant appearance in text: rs6046
PubMed Link: 21881118
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association between polymorphisms in the coagulation factor VII gene and coronary heart disease risk in different ethnicities: a meta-analysis.

Bmc Medical Genetics
X Mo, Y Hao, X Yang, S Chen, X Lu, D Gu
Publication Date: 2011-08-12

Variant appearance in text: rs6046
PubMed Link: 21838885
Variant Present in the following documents:
  • Main text
View BVdb publication page



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
KC Taylor, LA Lange, D Zabaneh, E Lange, BJ Keating, W Tang, NL Smith, JA Delaney, M Kumari, A Hingorani, KE North, M Kivimaki, RP Tracy, CJ O'Donnell, AR Folsom, D Green, SE Humphries, AP Reiner
Publication Date: 2011-09-01

Variant appearance in text: rs6046
PubMed Link: 21676895
Variant Present in the following documents:
  • Main text
View BVdb publication page



Heterogeneity of the phenotypic definition of coronary artery disease and its impact on genetic association studies.

Circulation. Cardiovascular Genetics
GD Kitsios, IJ Dahabreh, TA Trikalinos, CH Schmid, GS Huggins, DM Kent
Publication Date: 2011-02

Variant appearance in text: rs6046
PubMed Link: 21149552
Variant Present in the following documents:
  • NIHMS265927-supplement-1.pdf
View BVdb publication page



Association of coagulation-related and inflammation-related genes and factor VIIc levels with stroke: the Cardiovascular Health Study.

Journal Of Thrombosis And Haemostasis : Jth
NA Zakai, L Lange, WT Longstreth, ES O'Meara, JL Kelley, M Fornage, D Nikerson, M Cushman, AP Reiner
Publication Date: 2011-02

Variant appearance in text: rs6046
PubMed Link: 21114618
Variant Present in the following documents:
  • Main text
  • NIHMS253450-supplement-Table_S1.doc
  • NIHMS253450-supplement-Table_S2_and_S3.doc
View BVdb publication page



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
G Ken-Dror, F Drenos, SE Humphries, PJ Talmud, AD Hingorani, M Kivimäki, M Kumari, KA Bauer, JH Morrissey, HA Ireland
Publication Date: 2010-11

Variant appearance in text: rs6046
PubMed Link: 20735728
Variant Present in the following documents:
  • Main text
  • NIHMS280652-supplement-Supp_Table_S1-_S4.doc
View BVdb publication page



Association of fetal inflammation and coagulation pathway gene polymorphisms with neurodevelopmental delay at age 2 years.

American Journal Of Obstetrics And Gynecology
EA Clark, L Mele, RJ Wapner, CY Spong, Y Sorokin, A Peaceman, JD Iams, KJ Leveno, M Harper, SN Caritis, M Miodovnik, BM Mercer, JM Thorp, SM Ramin, M Carpenter, DJ Rouse,
Publication Date: 2010-07

Variant appearance in text: rs6046
PubMed Link: 20417488
Variant Present in the following documents:
  • Main text
View BVdb publication page



Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth.

Plos One
KK Ryckman, NH Morken, MJ White, DR Velez, R Menon, SJ Fortunato, P Magnus, SM Williams, B Jacobsson
Publication Date: 2010-02-03

Variant appearance in text: rs6046
PubMed Link: 20140262
Variant Present in the following documents:
  • pone.0009040.s003.doc
View BVdb publication page



Genetics of atherothrombotic and lacunar stroke.

Circulation. Cardiovascular Genetics
S Debette, S Seshadri
Publication Date: 2009-04

Variant appearance in text: rs6046
PubMed Link: 20031584
Variant Present in the following documents:
  • NIHMS126592-supplement-1.pdf
View BVdb publication page



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
RY Zee, RJ Glynn, S Cheng, L Steiner, L Rose, PM Ridker
Publication Date: 2009-02

Variant appearance in text: rs6046
PubMed Link: 20031567
Variant Present in the following documents:
  • Main text
  • NIHMS104124-supplement-Suppl_tables.doc
View BVdb publication page



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
K Kuehl, C Loffredo, EJ Lammer, DM Iovannisci, GM Shaw
Publication Date: 2010-02

Variant appearance in text: rs6046
PubMed Link: 19764075
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic and environmental factors determining clinical outcomes and cost of warfarin therapy: a prospective study.

Pharmacogenetics And Genomics
AL Jorgensen, S Al-Zubiedi, JE Zhang, A Keniry, A Hanson, DA Hughes, Dv Eker, L Stevens, K Hawkins, CH Toh, F Kamali, AK Daly, D Fitzmaurice, A Coffey, PR Williamson, BK Park, P Deloukas, M Pirmohamed
Publication Date: 2009-10

Variant appearance in text: rs6046
PubMed Link: 19752777
Variant Present in the following documents:
  • NIHMS30438-supplement-Supplementary_Table_B.doc
View BVdb publication page



Association of genetic variants with the metabolic syndrome in 20,806 white women: The Women's Health Genome Study.

American Heart Journal
AC Goulart, KM Rexrode, S Cheng, L Rose, JE Buring, PM Ridker, RY Zee
Publication Date: 2009-08

Variant appearance in text: rs6046
PubMed Link: 19619703
Variant Present in the following documents:
  • NIHMS140113-supplement-Supple.doc
View BVdb publication page



A candidate gene association study of 77 polymorphisms in migraine.

The Journal Of Pain : Official Journal Of The American Pain Society
M Schürks, T Kurth, JE Buring, RY Zee
Publication Date: 2009-07

Variant appearance in text: rs6046
PubMed Link: 19559392
Variant Present in the following documents:
  • Main text
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Common hemostasis and inflammation gene variants and venous thrombosis in older adults from the Cardiovascular Health Study.

Journal Of Thrombosis And Haemostasis : Jth
AP Reiner, LA Lange, NL Smith, NA Zakai, M Cushman, AR Folsom
Publication Date: 2009-09

Variant appearance in text: rs6046
PubMed Link: 19552680
Variant Present in the following documents:
  • NIHMS168993-supplement-Supplemental_Table_2.doc
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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
LA Hindorff, P Sethupathy, HA Junkins, EM Ramos, JP Mehta, FS Collins, TA Manolio
Publication Date: 2009-06-09

Variant appearance in text: rs6046
PubMed Link: 19474294
Variant Present in the following documents:
  • Main text
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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
AH Maitland-van der Zee, BJ Peters, AI Lynch, E Boerwinkle, DK Arnett, S Cheng, BR Davis, C Leiendecker-Foster, CE Ford, JH Eckfeldt
Publication Date: 2009-05

Variant appearance in text: rs6046
PubMed Link: 19415820
Variant Present in the following documents:
  • Main text
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Complexity in the genetic architecture of leukoaraiosis in hypertensive sibships from the GENOA Study.

Bmc Medical Genomics
JA Smith, ST Turner, YV Sun, M Fornage, RJ Kelly, TH Mosley, CR Jack, IJ Kullo, SL Kardia
Publication Date: 2009-04-07

Variant appearance in text: rs6046
PubMed Link: 19351393
Variant Present in the following documents:
  • 1755-8794-2-16-S1.xls
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Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.

Human Molecular Genetics
F Drenos, PJ Talmud, JP Casas, L Smeeth, J Palmen, SE Humphries, AD Hingorani
Publication Date: 2009-06-15

Variant appearance in text: rs6046
PubMed Link: 19336475
Variant Present in the following documents:
  • Main text
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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
D Conen, S Cheng, LL Steiner, JE Buring, PM Ridker, RY Zee
Publication Date: 2009-03

Variant appearance in text: rs6046
PubMed Link: 19330901
Variant Present in the following documents:
  • Main text
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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
RY Zee, V Bubes, S Shrivastava, PM Ridker, RJ Glynn
Publication Date: 2009-04

Variant appearance in text: rs6046
PubMed Link: 19263529
Variant Present in the following documents:
  • Main text
  • NIHMS91649-supplement-01.doc
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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
X Wang, S Cheng, VH Brophy, HA Erlich, C Mannhalter, K Berger, W Lalouschek, WS Browner, Y Shi, EB Ringelstein, C Kessler, J Luedemann, K Lindpaintner, L Liu, PM Ridker, RY Zee, NR Cook,
Publication Date: 2009-03

Variant appearance in text: rs6046
PubMed Link: 19131662
Variant Present in the following documents:
  • Main text
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Gender differences in genetic risk profiles for cardiovascular disease.

Plos One
K Silander, M Alanne, K Kristiansson, O Saarela, S Ripatti, K Auro, J Karvanen, S Kulathinal, M Niemelä, P Ellonen, E Vartiainen, P Jousilahti, J Saarela, K Kuulasmaa, A Evans, M Perola, V Salomaa, L Peltonen
Publication Date: 2008

Variant appearance in text: rs6046
PubMed Link: 18974842
Variant Present in the following documents:
  • pone.0003615.s001.xls
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New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.

Bmc Bioinformatics
S Penco, M Buscema, MC Patrosso, A Marocchi, E Grossi
Publication Date: 2008-05-30

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

Bmc Medical Genetics
Q Yang, S Kathiresan, JP Lin, GH Tofler, CJ O'Donnell
Publication Date: 2007-09-19

Variant appearance in text: rs6046
PubMed Link: 17903294
Variant Present in the following documents:
  • Main text
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Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000346342.3 c.1172G>C p.Arg391Pro missense_variant 8/8 -
ENST00000375581.3 c.1238G>C p.Arg413Pro missense_variant 9/9 -
ENST00000541084.1 c.1031G>C p.Arg344Pro missense_variant 6/6 -
NM_000131.4 c.1238G>C p.Arg413Pro missense_variant 9/9 -
NM_001267554.1 c.986G>C p.Arg329Pro missense_variant 6/6 -
NM_019616.3 c.1172G>C p.Arg391Pro missense_variant 8/8 -
NR_051961.2 n.1256G>C - non_coding_transcript_exon_variant 7/7 -