SCN10A c.3088-510A>G

Variant ID: 3-38767315-T-C

NM_006514.2(SCN10A):c.3088-510A>G

This variant was identified in 57 publications

View GRCh38 version.




Publications:


Genetics of sinoatrial node function and heart rate disorders.

Disease Models & Mechanisms
van der Maarel, Lieve E LE; Postma, Alex V AV; Christoffels, Vincent M VM
Publication Date: 2023-05-01

Variant appearance in text: rs6801957
PubMed Link: 37194974
Variant Present in the following documents:
  • Main text
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Cross-ancestry genome-wide analysis of atrial fibrillation unveils disease biology and enables cardioembolic risk prediction.

Nature Genetics
Miyazawa, Kazuo K; Ito, Kaoru K; Ito, Masamichi M; Zou, Zhaonan Z; Kubota, Masayuki M; Nomura, Seitaro S; Matsunaga, Hiroshi H; Koyama, Satoshi S; Ieki, Hirotaka H; Akiyama, Masato M; Koike, Yoshinao Y; Kurosawa, Ryo R; Yoshida, Hiroki H; Ozaki, Kouichi K; Onouchi, Yoshihiro Y; , ; Takahashi, Atsushi A; Matsuda, Koichi K; Murakami, Yoshinori Y; Aburatani, Hiroyuki H; Kubo, Michiaki M; Momozawa, Yukihide Y; Terao, Chikashi C; Oki, Shinya S; Akazawa, Hiroshi H; Kamatani, Yoichiro Y; Komuro, Issei I
Publication Date: 2023-01-19

Variant appearance in text: rs6801957
PubMed Link: 36653681
Variant Present in the following documents:
  • 41588_2022_1284_MOESM4_ESM.xlsx, sheet 5
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Deep learning-derived cardiovascular age shares a genetic basis with other cardiac phenotypes.

Scientific Reports
Libiseller-Egger, Julian J; Phelan, Jody E JE; Attia, Zachi I ZI; Benavente, Ernest Diez ED; Campino, Susana S; Friedman, Paul A PA; Lopez-Jimenez, Francisco F; Leon, David A DA; Clark, Taane G TG
Publication Date: 2022-12-31

Variant appearance in text: rs6801957
PubMed Link: 36587059
Variant Present in the following documents:
  • Main text
  • 41598_2022_27254_MOESM1_ESM.pdf
  • 41598_2022_Article_27254.pdf
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Concealed Substrates in Brugada Syndrome: Isolated Channelopathy or Associated Cardiomyopathy?

Genes
Di Resta, Chiara C; Berg, Jan J; Villatore, Andrea A; Maia, Marianna M; Pili, Gianluca G; Fioravanti, Francesco F; Tomaiuolo, Rossella R; Sala, Simone S; Benedetti, Sara S; Peretto, Giovanni G
Publication Date: 2022-09-28

Variant appearance in text: rs6801957
PubMed Link: 36292641
Variant Present in the following documents:
  • Main text
  • genes-13-01755.pdf
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The Genetics and Epigenetics of Ventricular Arrhythmias in Patients Without Structural Heart Disease.

Frontiers In Cardiovascular Medicine
Wang, Mengru M; Tu, Xin X
Publication Date: 2022

Variant appearance in text: rs6801957
PubMed Link: 35783865
Variant Present in the following documents:
  • Main text
  • fcvm-09-891399.pdf
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Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences
Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D
Publication Date: 2022-01-26

Variant appearance in text: rs6801957
PubMed Link: 35163304
Variant Present in the following documents:
  • Main text
  • ijms-23-01381.pdf
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Genomic and Non-Genomic Regulatory Mechanisms of the Cardiac Sodium Channel in Cardiac Arrhythmias.

International Journal Of Molecular Sciences
Daimi, Houria H; Lozano-Velasco, Estefanía E; Aranega, Amelia A; Franco, Diego D
Publication Date: 2022-01-26

Variant appearance in text: rs6801957
PubMed Link: 35163304
Variant Present in the following documents:
  • Main text
  • ijms-23-01381.pdf
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Human iPSC-Cardiomyocytes as an Experimental Model to Study Epigenetic Modifiers of Electrophysiology.

Cells
Pozo, Maria R MR; Meredith, Gantt W GW; Entcheva, Emilia E
Publication Date: 2022-01-07

Variant appearance in text: rs6801957
PubMed Link: 35053315
Variant Present in the following documents:
  • Main text
  • cells-11-00200.pdf
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Human iPSC-Cardiomyocytes as an Experimental Model to Study Epigenetic Modifiers of Electrophysiology.

Cells
Pozo, Maria R MR; Meredith, Gantt W GW; Entcheva, Emilia E
Publication Date: 2022-01-07

Variant appearance in text: rs6801957
PubMed Link: 35053315
Variant Present in the following documents:
  • Main text
  • cells-11-00200.pdf
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The genetic case for cardiorespiratory fitness as a clinical vital sign and the routine prescription of physical activity in healthcare.

Genome Medicine
Hanscombe, Ken B KB; Persyn, Elodie E; Traylor, Matthew M; Glanville, Kylie P KP; Hamer, Mark M; Coleman, Jonathan R I JRI; Lewis, Cathryn M CM
Publication Date: 2021-11-09

Variant appearance in text: rs6801957
PubMed Link: 34753499
Variant Present in the following documents:
  • Main text
  • 13073_2021_Article_994.pdf
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Analysis of Brugada syndrome loci reveals that fine-mapping clustered GWAS hits enhances the annotation of disease-relevant variants.

Cell Reports. Medicine
Pinsach-Abuin, Mel Lina ML; Del Olmo, Bernat B; Pérez-Agustin, Adrian A; Mates, Jesus J; Allegue, Catarina C; Iglesias, Anna A; Ma, Qi Q; Merkurjev, Daria D; Konovalov, Sergiy S; Zhang, Jing J; Sheikh, Farah F; Telenti, Amalio A; Brugada, Josep J; Brugada, Ramon R; Gymrek, Melissa M; di Iulio, Julia J; Garcia-Bassets, Ivan I; Pagans, Sara S
Publication Date: 2021-04-20

Variant appearance in text: rs6801957
PubMed Link: 33948580
Variant Present in the following documents:
  • Main text
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Heart Enhancers: Development and Disease Control at a Distance.

Frontiers In Genetics
Yuan, Xuefei X; Scott, Ian C IC; Wilson, Michael D MD
Publication Date: 2021

Variant appearance in text: rs6801957
PubMed Link: 33777110
Variant Present in the following documents:
  • Main text
  • fgene-12-642975.pdf
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Role of Non-Coding Variants in Brugada Syndrome.

International Journal Of Molecular Sciences
Pérez-Agustín, Adrian A; Pinsach-Abuin, Mel Lina ML; Pagans, Sara S
Publication Date: 2020-11-13

Variant appearance in text: rs6801957
PubMed Link: 33202810
Variant Present in the following documents:
  • Main text
  • ijms-21-08556.pdf
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The Genetic Makeup of the Electrocardiogram.

Cell Systems
Verweij, Niek N; Benjamins, Jan-Walter JW; Morley, Michael P MP; van de Vegte, Yordi J YJ; Teumer, Alexander A; Trenkwalder, Teresa T; Reinhard, Wibke W; Cappola, Thomas P TP; van der Harst, Pim P
Publication Date: 2020-09-23

Variant appearance in text: rs6801957
PubMed Link: 32916098
Variant Present in the following documents:
  • Main text
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Epigenetic and Transcriptional Networks Underlying Atrial Fibrillation.

Circulation Research
van Ouwerkerk, Antoinette F AF; Hall, Amelia W AW; Kadow, Zachary A ZA; Lazarevic, Sonja S; Reyat, Jasmeet S JS; Tucker, Nathan R NR; Nadadur, Rangarajan D RD; Bosada, Fernanda M FM; Bianchi, Valerio V; Ellinor, Patrick T PT; Fabritz, Larissa L; Martin, James F JF; de Laat, Wouter W; Kirchhof, Paulus P; Moskowitz, Ivan P IP; Christoffels, Vincent M VM
Publication Date: 2020-06-19

Variant appearance in text: rs6801957
PubMed Link: 32717170
Variant Present in the following documents:
  • Main text
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The contribution of non-coding regulatory elements to cardiovascular disease.

Open Biology
Villar, Diego D; Frost, Stephanie S; Deloukas, Panos P; Tinker, Andrew A
Publication Date: 2020-07

Variant appearance in text: rs6801957
PubMed Link: 32603637
Variant Present in the following documents:
  • Main text
  • rsob-10-200088.pdf
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Genome-wide association studies of cardiac electrical phenotypes.

Cardiovascular Research
Glinge, Charlotte C; Lahrouchi, Najim N; Jabbari, Reza R; Tfelt-Hansen, Jacob J; Bezzina, Connie R CR
Publication Date: 2020-07-15

Variant appearance in text: rs6801957
PubMed Link: 32428210
Variant Present in the following documents:
  • Main text
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Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval.

American Journal Of Human Genetics
Ramírez, Julia J; van Duijvenboden, Stefan S; Young, William J WJ; Orini, Michele M; Lambiase, Pier D PD; Munroe, Patricia B PB; Tinker, Andrew A
Publication Date: 2020-06-04

Variant appearance in text: rs6801957
PubMed Link: 32386560
Variant Present in the following documents:
  • Main text
  • mmc8.pdf
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Absence of Functional Nav1.8 Channels in Non-diseased Atrial and Ventricular Cardiomyocytes.

Cardiovascular Drugs And Therapy
Casini, Simona S; Marchal, Gerard A GA; Kawasaki, Makiri M; Nariswari, Fransisca A FA; Portero, Vincent V; van den Berg, Nicoline W E NWE; Guan, Kaomei K; Driessen, Antoine H G AHG; Veldkamp, Marieke W MW; Mengarelli, Isabella I; de Groot, Joris R JR; Verkerk, Arie O AO; Remme, Carol Ann CA
Publication Date: 2019-12

Variant appearance in text: rs6801957
PubMed Link: 31916131
Variant Present in the following documents:
  • Main text
  • 10557_2019_Article_6925.pdf
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Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits.

Nature Genetics
Benaglio, Paola P; D'Antonio-Chronowska, Agnieszka A; Ma, Wubin W; Yang, Feng F; Young Greenwald, William W WW; Donovan, Margaret K R MKR; DeBoever, Christopher C; Li, He H; Drees, Frauke F; Singhal, Sanghamitra S; Matsui, Hiroko H; van Setten, Jessica J; Sotoodehnia, Nona N; Gaulton, Kyle J KJ; Smith, Erin N EN; D'Antonio, Matteo M; Rosenfeld, Michael G MG; Frazer, Kelly A KA
Publication Date: 2019-10

Variant appearance in text: rs6801957
PubMed Link: 31570892
Variant Present in the following documents:
  • Main text
  • EMS84089.pdf
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GWAS of QRS duration identifies new loci specific to Hispanic/Latino populations.

Plos One
Swenson, Brenton R BR; Louie, Tin T; Lin, Henry J HJ; Méndez-Giráldez, Raúl R; Below, Jennifer E JE; Laurie, Cathy C CC; Kerr, Kathleen F KF; Highland, Heather H; Thornton, Timothy A TA; Ryckman, Kelli K KK; Kooperberg, Charles C; Soliman, Elsayed Z EZ; Seyerle, Amanda A AA; Guo, Xiuqing X; Taylor, Kent D KD; Yao, Jie J; Heckbert, Susan R SR; Darbar, Dawood D; Petty, Lauren E LE; McKnight, Barbara B; Cheng, Susan S; Bello, Natalie A NA; Whitsel, Eric A EA; Hanis, Craig L CL; Nalls, Mike A MA; Evans, Daniel S DS; Rotter, Jerome I JI; Sofer, Tamar T; Avery, Christy L CL; Sotoodehnia, Nona N
Publication Date: 2019

Variant appearance in text: rs6801957
PubMed Link: 31251759
Variant Present in the following documents:
  • Main text
  • pone.0217796.pdf
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Functional characterization of SCN10A variants in several cases of sudden unexplained death.

Forensic Science International
Gando, Ivan I; Williams, Nori N; Fishman, Glenn I GI; Sampson, Barbara A BA; Tang, Yingying Y; Coetzee, William A WA
Publication Date: 2019-08

Variant appearance in text: rs6801957
PubMed Link: 31195250
Variant Present in the following documents:
  • Main text
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A comparison of two workflows for regulome and transcriptome-based prioritization of genetic variants associated with myocardial mass.

Genetic Epidemiology
Manduchi, Elisabetta E; Hemerich, Daiane D; van Setten, Jessica J; Tragante, Vinicius V; Harakalova, Magdalena M; Pei, Jiayi J; Williams, Scott M SM; van der Harst, Pim P; Asselbergs, Folkert W FW; Moore, Jason H JH
Publication Date: 2019-09

Variant appearance in text: rs6801957
PubMed Link: 31145509
Variant Present in the following documents:
  • Main text
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Multiple SCN5A variant enhancers modulate its cardiac gene expression and the QT interval.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Kapoor, Ashish A; Lee, Dongwon D; Zhu, Luke L; Soliman, Elsayed Z EZ; Grove, Megan L ML; Boerwinkle, Eric E; Arking, Dan E DE; Chakravarti, Aravinda A
Publication Date: 2019-05-28

Variant appearance in text: rs6801957
PubMed Link: 31068470
Variant Present in the following documents:
  • Main text
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PINES: phenotype-informed tissue weighting improves prediction of pathogenic noncoding variants.

Genome Biology
Bodea, Corneliu A CA; Mitchell, Adele A AA; Bloemendal, Alex A; Day-Williams, Aaron G AG; Runz, Heiko H; Sunyaev, Shamil R SR
Publication Date: 2018-10-25

Variant appearance in text: rs6801957
PubMed Link: 30359302
Variant Present in the following documents:
  • Main text
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Brugada Syndrome-Associated Genetic Loci Are Associated With J-Point Elevation and an Increased Risk of Cardiac Arrest.

Frontiers In Physiology
Andreasen, Laura L; Ghouse, Jonas J; Skov, Morten W MW; Have, Christian T CT; Ahlberg, Gustav G; Rasmussen, Peter V PV; Linneberg, Allan A; Pedersen, Oluf O; Platonov, Pyotr G PG; Haunsø, Stig S; Svendsen, Jesper H JH; Hansen, Torben T; Kanters, Jørgen K JK; Olesen, Morten S MS
Publication Date: 2018

Variant appearance in text: rs6801957
PubMed Link: 30042696
Variant Present in the following documents:
  • Main text
  • fphys-09-00894.pdf
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Common Coding Variants in SCN10A Are Associated With the Nav1.8 Late Current and Cardiac Conduction.

Circulation. Genomic And Precision Medicine
Macri, Vincenzo V; Brody, Jennifer A JA; Arking, Dan E DE; Hucker, William J WJ; Yin, Xiaoyan X; Lin, Honghuang H; Mills, Robert W RW; Sinner, Moritz F MF; Lubitz, Steven A SA; Liu, Ching-Ti CT; Morrison, Alanna C AC; Alonso, Alvaro A; Li, Ning N; Fedorov, Vadim V VV; Janssen, Paul M PM; Bis, Joshua C JC; Heckbert, Susan R SR; Dolmatova, Elena V EV; Lumley, Thomas T; Sitlani, Colleen M CM; Cupples, L Adrienne LA; Pulit, Sara L SL; Newton-Cheh, Christopher C; Barnard, John J; Smith, Jonathan D JD; Van Wagoner, David R DR; Chung, Mina K MK; Vlahakes, Gus J GJ; O'Donnell, Christopher J CJ; Rotter, Jerome I JI; Margulies, Kenneth B KB; Morley, Michael P MP; Cappola, Thomas P TP; Benjamin, Emelia J EJ; Muzny, Donna D; Gibbs, Richard A RA; Jackson, Rebecca D RD; Magnani, Jared W JW; Herndon, Caroline N CN; Rich, Stephen S SS; Psaty, Bruce M BM; Milan, David J DJ; Boerwinkle, Eric E; Mohler, Peter J PJ; Sotoodehnia, Nona N; Ellinor, Patrick T PT
Publication Date: 2018-05

Variant appearance in text: rs6801957
PubMed Link: 29752399
Variant Present in the following documents:
  • Main text
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FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications.

American Journal Of Human Genetics
Backenroth, Daniel D; He, Zihuai Z; Kiryluk, Krzysztof K; Boeva, Valentina V; Pethukova, Lynn L; Khurana, Ekta E; Christiano, Angela A; Buxbaum, Joseph D JD; Ionita-Laza, Iuliana I
Publication Date: 2018-05-03

Variant appearance in text: rs6801957
PubMed Link: 29727691
Variant Present in the following documents:
  • Main text
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A variant in the SCN10A enhancer may affect human mechanical pain sensitivity.

Molecular Pain
Duan, Guangyou G; Sun, Jiaoli J; Li, Ningbo N; Zheng, Hua H; Guo, Shanna S; Zhang, Yuhao Y; Wang, Qingli Q; Ying, Ying Y; Zhang, Mi M; Huang, Penghao P; Zhang, Xianwei X
Publication Date: 2018

Variant appearance in text: rs6801957
PubMed Link: 29448912
Variant Present in the following documents:
  • Main text
  • 10.1177_1744806918763275.pdf
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Association of common genetic variants related to atrial fibrillation and the risk of ventricular fibrillation in the setting of first ST-elevation myocardial infarction.

Bmc Medical Genetics
Jabbari, Reza R; Jabbari, Javad J; Glinge, Charlotte C; Risgaard, Bjarke B; Sattler, Stefan S; Winkel, Bo Gregers BG; Terkelsen, Christian Juhl CJ; Tilsted, Hans-Henrik HH; Jensen, Lisette Okkels LO; Hougaard, Mikkel M; Haunsø, Stig S; Engstrøm, Thomas T; Albert, Christine M CM; Tfelt-Hansen, Jacob J
Publication Date: 2017-11-21

Variant appearance in text: rs6801957
PubMed Link: 29162046
Variant Present in the following documents:
  • Main text
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Genome-wide association study of PR interval in Hispanics/Latinos identifies novel locus at ID2.

Heart (British Cardiac Society)
Seyerle, Amanda A AA; Lin, Henry J HJ; Gogarten, Stephanie M SM; Stilp, Adrienne A; Méndez Giráldez, Raul R; Soliman, Elsayed E; Baldassari, Antoine A; Graff, Mariaelisa M; Heckbert, Susan S; Kerr, Kathleen F KF; Kooperberg, Charles C; Rodriguez, Carlos C; Guo, Xiuqing X; Yao, Jie J; Sotoodehnia, Nona N; Taylor, Kent D KD; Whitsel, Eric A EA; Rotter, Jerome I JI; Laurie, Cathy C CC; Avery, Christy L CL
Publication Date: 2018-06

Variant appearance in text: rs6801957
PubMed Link: 29127183
Variant Present in the following documents:
  • Main text
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Development and Function of the Cardiac Conduction System in Health and Disease.

Journal Of Cardiovascular Development And Disease
Park, David S DS; Fishman, Glenn I GI
Publication Date: 2017

Variant appearance in text: rs6801957
PubMed Link: 29098150
Variant Present in the following documents:
  • Main text
  • jcdd-04-00007.pdf
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GENomE wide analysis of sotalol-induced IKr inhibition during ventricular REPOLarization, "GENEREPOL study": Lack of common variants with large effect sizes.

Plos One
Salem, Joe-Elie JE; Germain, Marine M; Hulot, Jean-Sébastien JS; Voiriot, Pascal P; Lebourgeois, Bruno B; Waldura, Jean J; Tregouet, David-Alexandre DA; Charbit, Beny B; Funck-Brentano, Christian C
Publication Date: 2017

Variant appearance in text: rs6801957
PubMed Link: 28800628
Variant Present in the following documents:
  • pone.0181875.s004.xlsx, sheet 1
View BVdb publication page



Fifteen Genetic Loci Associated With the Electrocardiographic P Wave.

Circulation. Cardiovascular Genetics
Christophersen, Ingrid E IE; Magnani, Jared W JW; Yin, Xiaoyan X; Barnard, John J; Weng, Lu-Chen LC; Arking, Dan E DE; Niemeijer, Maartje N MN; Lubitz, Steven A SA; Avery, Christy L CL; Duan, Qing Q; Felix, Stephan B SB; Bis, Joshua C JC; Kerr, Kathleen F KF; Isaacs, Aaron A; Müller-Nurasyid, Martina M; Müller, Christian C; North, Kari E KE; Reiner, Alex P AP; Tinker, Lesley F LF; Kors, Jan A JA; Teumer, Alexander A; Petersmann, Astrid A; Sinner, Moritz F MF; Buzkova, Petra P; Smith, Jonathan D JD; Van Wagoner, David R DR; Völker, Uwe U; Waldenberger, Melanie M; Peters, Annette A; Meitinger, Thomas T; Limacher, Marian C MC; Wilhelmsen, Kirk C KC; Psaty, Bruce M BM; Hofman, Albert A; Uitterlinden, Andre A; Krijthe, Bouwe P BP; Zhang, Zhu-Ming ZM; Schnabel, Renate B RB; Kääb, Stefan S; van Duijn, Cornelia C; Rotter, Jerome I JI; Sotoodehnia, Nona N; Dörr, Marcus M; Li, Yun Y; Chung, Mina K MK; Soliman, Elsayed Z EZ; Alonso, Alvaro A; Whitsel, Eric A EA; Stricker, Bruno H BH; Benjamin, Emelia J EJ; Heckbert, Susan R SR; Ellinor, Patrick T PT
Publication Date: 2017-08

Variant appearance in text: rs6801957
PubMed Link: 28794112
Variant Present in the following documents:
  • Main text
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Fine mapping of QT interval regions in global populations refines previously identified QT interval loci and identifies signals unique to African and Hispanic descent populations.

Heart Rhythm
Avery, Christy L CL; Wassel, Christina L CL; Richard, Melissa A MA; Highland, Heather M HM; Bien, Stephanie S; Zubair, Niha N; Soliman, Elsayed Z EZ; Fornage, Myriam M; Bielinski, Suzette J SJ; Tao, Ran R; Seyerle, Amanda A AA; Shah, Sanjiv J SJ; Lloyd-Jones, Donald M DM; Buyske, Steven S; Rotter, Jerome I JI; Post, Wendy S WS; Rich, Stephen S SS; Hindorff, Lucia A LA; Jeff, Janina M JM; Shohet, Ralph V RV; Sotoodehnia, Nona N; Lin, Dan Yu DY; Whitsel, Eric A EA; Peters, Ulrike U; Haiman, Christopher A CA; Crawford, Dana C DC; Kooperberg, Charles C; North, Kari E KE
Publication Date: 2017-04

Variant appearance in text: rs6801957
PubMed Link: 27988371
Variant Present in the following documents:
  • Main text
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The rs6771157 C/G polymorphism in SCN10A is associated with the risk of atrial fibrillation in a Chinese Han population.

Scientific Reports
Fang, Zhen Z; Jiang, Yue Y; Wang, Yifeng Y; Lin, Yuan Y; Liu, Yaowu Y; Zhao, Liyan L; Xu, Yan Y; Toorabally, Mohammad Bilaal MB; He, Shenghu S; Zhang, Fengxiang F
Publication Date: 2016-10-11

Variant appearance in text: rs6801957
PubMed Link: 27725708
Variant Present in the following documents:
  • Main text
  • srep35212.pdf
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52 Genetic Loci Influencing Myocardial Mass.

Journal Of The American College Of Cardiology
van der Harst, Pim P; van Setten, Jessica J; Verweij, Niek N; Vogler, Georg G; Franke, Lude L; Maurano, Matthew T MT; Wang, Xinchen X; Mateo Leach, Irene I; Eijgelsheim, Mark M; Sotoodehnia, Nona N; Hayward, Caroline C; Sorice, Rossella R; Meirelles, Osorio O; Lyytikäinen, Leo-Pekka LP; Polašek, Ozren O; Tanaka, Toshiko T; Arking, Dan E DE; Ulivi, Sheila S; Trompet, Stella S; Müller-Nurasyid, Martina M; Smith, Albert V AV; Dörr, Marcus M; Kerr, Kathleen F KF; Magnani, Jared W JW; Del Greco M, Fabiola F; Zhang, Weihua W; Nolte, Ilja M IM; Silva, Claudia T CT; Padmanabhan, Sandosh S; Tragante, Vinicius V; Esko, Tõnu T; Abecasis, Gonçalo R GR; Adriaens, Michiel E ME; Andersen, Karl K; Barnett, Phil P; Bis, Joshua C JC; Bodmer, Rolf R; Buckley, Brendan M BM; Campbell, Harry H; Cannon, Megan V MV; Chakravarti, Aravinda A; Chen, Lin Y LY; Delitala, Alessandro A; Devereux, Richard B RB; Doevendans, Pieter A PA; Dominiczak, Anna F AF; Ferrucci, Luigi L; Ford, Ian I; Gieger, Christian C; Harris, Tamara B TB; Haugen, Eric E; Heinig, Matthias M; Hernandez, Dena G DG; Hillege, Hans L HL; Hirschhorn, Joel N JN; Hofman, Albert A; Hubner, Norbert N; Hwang, Shih-Jen SJ; Iorio, Annamaria A; Kähönen, Mika M; Kellis, Manolis M; Kolcic, Ivana I; Kooner, Ishminder K IK; Kooner, Jaspal S JS; Kors, Jan A JA; Lakatta, Edward G EG; Lage, Kasper K; Launer, Lenore J LJ; Levy, Daniel D; Lundby, Alicia A; Macfarlane, Peter W PW; May, Dalit D; Meitinger, Thomas T; Metspalu, Andres A; Nappo, Stefania S; Naitza, Silvia S; Neph, Shane S; Nord, Alex S AS; Nutile, Teresa T; Okin, Peter M PM; Olsen, Jesper V JV; Oostra, Ben A BA; Penninger, Josef M JM; Pennacchio, Len A LA; Pers, Tune H TH; Perz, Siegfried S; Peters, Annette A; Pinto, Yigal M YM; Pfeufer, Arne A; Pilia, Maria Grazia MG; Pramstaller, Peter P PP; Prins, Bram P BP; Raitakari, Olli T OT; Raychaudhuri, Soumya S; Rice, Ken M KM; Rossin, Elizabeth J EJ; Rotter, Jerome I JI; Schafer, Sebastian S; Schlessinger, David D; Schmidt, Carsten O CO; Sehmi, Jobanpreet J; Silljé, Herman H W HHW; Sinagra, Gianfranco G; Sinner, Moritz F MF; Slowikowski, Kamil K; Soliman, Elsayed Z EZ; Spector, Timothy D TD; Spiering, Wilko W; Stamatoyannopoulos, John A JA; Stolk, Ronald P RP; Strauch, Konstantin K; Tan, Sian-Tsung ST; Tarasov, Kirill V KV; Trinh, Bosco B; Uitterlinden, Andre G AG; van den Boogaard, Malou M; van Duijn, Cornelia M CM; van Gilst, Wiek H WH; Viikari, Jorma S JS; Visscher, Peter M PM; Vitart, Veronique V; Völker, Uwe U; Waldenberger, Melanie M; Weichenberger, Christian X CX; Westra, Harm-Jan HJ; Wijmenga, Cisca C; Wolffenbuttel, Bruce H BH; Yang, Jian J; Bezzina, Connie R CR; Munroe, Patricia B PB; Snieder, Harold H; Wright, Alan F AF; Rudan, Igor I; Boyer, Laurie A LA; Asselbergs, Folkert W FW; van Veldhuisen, Dirk J DJ; Stricker, Bruno H BH; Psaty, Bruce M BM; Ciullo, Marina M; Sanna, Serena S; Lehtimäki, Terho T; Wilson, James F JF; Bandinelli, Stefania S; Alonso, Alvaro A; Gasparini, Paolo P; Jukema, J Wouter JW; Kääb, Stefan S; Gudnason, Vilmundur V; Felix, Stephan B SB; Heckbert, Susan R SR; de Boer, Rudolf A RA; Newton-Cheh, Christopher C; Hicks, Andrew A AA; Chambers, John C JC; Jamshidi, Yalda Y; Visel, Axel A; Christoffels, Vincent M VM; Isaacs, Aaron A; Samani, Nilesh J NJ; de Bakker, Paul I W PIW
Publication Date: 2016-09-27

Variant appearance in text: rs6801957
PubMed Link: 27659466
Variant Present in the following documents:
  • Main text
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Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans.

Human Molecular Genetics
Evans, Daniel S DS; Avery, Christy L CL; Nalls, Mike A MA; Li, Guo G; Barnard, John J; Smith, Erin N EN; Tanaka, Toshiko T; Butler, Anne M AM; Buxbaum, Sarah G SG; Alonso, Alvaro A; Arking, Dan E DE; Berenson, Gerald S GS; Bis, Joshua C JC; Buyske, Steven S; Carty, Cara L CL; Chen, Wei W; Chung, Mina K MK; Cummings, Steven R SR; Deo, Rajat R; Eaton, Charles B CB; Fox, Ervin R ER; Heckbert, Susan R SR; Heiss, Gerardo G; Hindorff, Lucia A LA; Hsueh, Wen-Chi WC; Isaacs, Aaron A; Jamshidi, Yalda Y; Kerr, Kathleen F KF; Liu, Felix F; Liu, Yongmei Y; Lohman, Kurt K KK; Magnani, Jared W JW; Maher, Joseph F JF; Mehra, Reena R; Meng, Yan A YA; Musani, Solomon K SK; Newton-Cheh, Christopher C; North, Kari E KE; Psaty, Bruce M BM; Redline, Susan S; Rotter, Jerome I JI; Schnabel, Renate B RB; Schork, Nicholas J NJ; Shohet, Ralph V RV; Singleton, Andrew B AB; Smith, Jonathan D JD; Soliman, Elsayed Z EZ; Srinivasan, Sathanur R SR; Taylor, Herman A HA; Van Wagoner, David R DR; Wilson, James G JG; Young, Taylor T; Zhang, Zhu-Ming ZM; Zonderman, Alan B AB; Evans, Michele K MK; Ferrucci, Luigi L; Murray, Sarah S SS; Tranah, Gregory J GJ; Whitsel, Eric A EA; Reiner, Alex P AP; , ; Sotoodehnia, Nona N
Publication Date: 2016-10-01

Variant appearance in text: rs6801957
PubMed Link: 27577874
Variant Present in the following documents:
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The Brugada Syndrome: A Rare Arrhythmia Disorder with Complex Inheritance.

Frontiers In Cardiovascular Medicine
Gourraud, Jean-Baptiste JB; Barc, Julien J; Thollet, Aurélie A; Le Scouarnec, Solena S; Le Marec, Hervé H; Schott, Jean-Jacques JJ; Redon, Richard R; Probst, Vincent V
Publication Date: 2016

Variant appearance in text: rs6801957
PubMed Link: 27200363
Variant Present in the following documents:
  • Main text
  • fcvm-03-00009.pdf
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Twenty-eight genetic loci associated with ST-T-wave amplitudes of the electrocardiogram.

Human Molecular Genetics
Verweij, Niek N; Mateo Leach, Irene I; Isaacs, Aaron A; Arking, Dan E DE; Bis, Joshua C JC; Pers, Tune H TH; Van Den Berg, Marten E ME; Lyytikäinen, Leo-Pekka LP; Barnett, Phil P; Wang, Xinchen X; , ; Soliman, Elsayed Z EZ; Van Duijn, Cornelia M CM; Kähönen, Mika M; Van Veldhuisen, Dirk J DJ; Kors, Jan A JA; Raitakari, Olli T OT; Silva, Claudia T CT; Lehtimäki, Terho T; Hillege, Hans L HL; Hirschhorn, Joel N JN; Boyer, Laurie A LA; Van Gilst, Wiek H WH; Alonso, Alvaro A; Sotoodehnia, Nona N; Eijgelsheim, Mark M; De Boer, Rudolf A RA; De Bakker, Paul I W PI; Franke, Lude L; Van Der Harst, Pim P
Publication Date: 2016-05-15

Variant appearance in text: rs6801957
PubMed Link: 26962151
Variant Present in the following documents:
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Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Frontiers In Pharmacology
Loussouarn, Gildas G; Sternberg, Damien D; Nicole, Sophie S; Marionneau, Céline C; Le Bouffant, Francoise F; Toumaniantz, Gilles G; Barc, Julien J; Malak, Olfat A OA; Fressart, Véronique V; Péréon, Yann Y; Baró, Isabelle I; Charpentier, Flavien F
Publication Date: 2015

Variant appearance in text: rs6801957
PubMed Link: 26834636
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Channelopathy-related SCN10A gene variants predict cerebellar dysfunction in multiple sclerosis.

Neurology
Roostaei, Tina T; Sadaghiani, Shokufeh S; Park, Min Tae M MT; Mashhadi, Rahil R; Nazeri, Aria A; Noshad, Sina S; Salehi, Mohammad Javad MJ; Naghibzadeh, Maryam M; Moghadasi, Abdorreza Naser AN; Owji, Mahsa M; Doosti, Rozita R; Taheri, Amir Pejman Hashemi AP; Rad, Ali Shakouri AS; Azimi, Amirreza A; Chakravarty, M Mallar MM; Voineskos, Aristotle N AN; Nazeri, Arash A; Sahraian, Mohammad Ali MA
Publication Date: 2016-02-02

Variant appearance in text: rs6801957
PubMed Link: 26740675
Variant Present in the following documents:
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Towards a phenome-wide catalog of human clinical traits impacted by genetic ancestry.

Biodata Mining
Dumitrescu, Logan L; Restrepo, Nicole A NA; Goodloe, Robert R; Boston, Jonathan J; Farber-Eger, Eric E; Pendergrass, Sarah A SA; Bush, William S WS; Crawford, Dana C DC
Publication Date: 2015

Variant appearance in text: rs6801957
PubMed Link: 26566401
Variant Present in the following documents:
  • Main text
  • 13040_2015_Article_68.pdf
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Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

Cardiovascular Research
Behr, Elijah R ER; Savio-Galimberti, Eleonora E; Barc, Julien J; Holst, Anders G AG; Petropoulou, Evmorfia E; Prins, Bram P BP; Jabbari, Javad J; Torchio, Margherita M; Berthet, Myriam M; Mizusawa, Yuka Y; Yang, Tao T; Nannenberg, Eline A EA; Dagradi, Federica F; Weeke, Peter P; Bastiaenan, Rachel R; Ackerman, Michael J MJ; Haunso, Stig S; Leenhardt, Antoine A; Kääb, Stefan S; Probst, Vincent V; Redon, Richard R; Sharma, Sanjay S; Wilde, Arthur A; Tfelt-Hansen, Jacob J; Schwartz, Peter P; Roden, Dan M DM; Bezzina, Connie R CR; Olesen, Morten M; Darbar, Dawood D; Guicheney, Pascale P; Crotti, Lia L; , ; Jamshidi, Yalda Y
Publication Date: 2015-06-01

Variant appearance in text: rs6801957
PubMed Link: 25691538
Variant Present in the following documents:
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OccuPeak: ChIP-Seq peak calling based on internal background modelling.

Plos One
de Boer, Bouke A BA; van Duijvenboden, Karel K; van den Boogaard, Malou M; Christoffels, Vincent M VM; Barnett, Phil P; Ruijter, Jan M JM
Publication Date: 2014

Variant appearance in text: rs6801957
PubMed Link: 24936875
Variant Present in the following documents:
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Genetic determinants of P wave duration and PR segment.

Circulation. Cardiovascular Genetics
Verweij, Niek N; Mateo Leach, Irene I; van den Boogaard, Malou M; van Veldhuisen, Dirk J DJ; Christoffels, Vincent M VM; , ; Hillege, Hans L HL; van Gilst, Wiek H WH; Barnett, Phil P; de Boer, Rudolf A RA; van der Harst, Pim P
Publication Date: 2014-08

Variant appearance in text: rs6801957
PubMed Link: 24850809
Variant Present in the following documents:
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Genome-wide identification of expression quantitative trait loci (eQTLs) in human heart.

Plos One
Koopmann, Tamara T TT; Adriaens, Michiel E ME; Moerland, Perry D PD; Marsman, Roos F RF; Westerveld, Margriet L ML; Lal, Sean S; Zhang, Taifang T; Simmons, Christine Q CQ; Baczko, Istvan I; dos Remedios, Cristobal C; Bishopric, Nanette H NH; Varro, Andras A; George, Alfred L AL; Lodder, Elisabeth M EM; Bezzina, Connie R CR
Publication Date: 2014

Variant appearance in text: rs6801957
PubMed Link: 24846176
Variant Present in the following documents:
  • Main text
  • pone.0097380.pdf
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Brugada syndrome risk loci seem protective against atrial fibrillation.

European Journal Of Human Genetics : Ejhg
Andreasen, Laura L; Nielsen, Jonas B JB; Darkner, Stine S; Christophersen, Ingrid E IE; Jabbari, Javad J; Refsgaard, Lena L; Thiis, Jens J JJ; Sajadieh, Ahmad A; Tveit, Arnljot A; Haunsø, Stig S; Svendsen, Jesper H JH; Schmitt, Nicole N; Olesen, Morten S MS
Publication Date: 2014-12

Variant appearance in text: rs6801957
PubMed Link: 24667784
Variant Present in the following documents:
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A common genetic variant within SCN10A modulates cardiac SCN5A expression.

The Journal Of Clinical Investigation
van den Boogaard, Malou M; Smemo, Scott S; Burnicka-Turek, Ozanna O; Arnolds, David E DE; van de Werken, Harmen J G HJ; Klous, Petra P; McKean, David D; Muehlschlegel, Jochen D JD; Moosmann, Julia J; Toka, Okan O; Yang, Xinan H XH; Koopmann, Tamara T TT; Adriaens, Michiel E ME; Bezzina, Connie R CR; de Laat, Wouter W; Seidman, Christine C; Seidman, J G JG; Christoffels, Vincent M VM; Nobrega, Marcelo A MA; Barnett, Phil P; Moskowitz, Ivan P IP
Publication Date: 2014-04

Variant appearance in text: rs6801957
PubMed Link: 24642470
Variant Present in the following documents:
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Nav-igating through a complex landscape: SCN10A and cardiac conduction.

The Journal Of Clinical Investigation
Park, David S DS; Fishman, Glenn I GI
Publication Date: 2014-04

Variant appearance in text: rs6801957
PubMed Link: 24642462
Variant Present in the following documents:
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Detection of regulatory SNPs in human genome using ChIP-seq ENCODE data.

Plos One
Bryzgalov, Leonid O LO; Antontseva, Elena V EV; Matveeva, Marina Yu MY; Shilov, Alexander G AG; Kashina, Elena V EV; Mordvinov, Viatcheslav A VA; Merkulova, Tatyana I TI
Publication Date: 2013

Variant appearance in text: rs6801957
PubMed Link: 24205329
Variant Present in the following documents:
  • Main text
  • pone.0078833.pdf
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