LIG3 c.1824-375C>T

Variant ID: 17-33324382-C-T

NM_013975.3(LIG3):c.1824-375C>T

This variant was identified in 25 publications

View GRCh38 version.




Publications:


Long QT syndrome - Bench to bedside.

Heart Rhythm O2
Ponce-Balbuena, Daniela D; Deschênes, Isabelle I
Publication Date: 2021-02

Variant appearance in text: rs2074518
PubMed Link: 34113909
Variant Present in the following documents:
  • Main text
  • main.pdf
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Validation and Disease Risk Assessment of Previously Reported Genome-Wide Genetic Variants Associated With Brugada Syndrome: SADS-TW BrS Registry.

Circulation. Genomic And Precision Medicine
Jimmy Juang, Jyh-Ming JM; Liu, Yen-Bin YB; Julius Chen, Ching-Yu CY; Yu, Qi-You QY; Chattopadhyay, Amrita A; Lin, Lian-Yu LY; Chen, Wen-Jone WJ; Yu, Chih-Chien CC; Huang, Hui-Chun HC; Ho, Li-Ting LT; Lai, Ling-Ping LP; Hwang, Juey-Jen JJ; Lin, Ting-Tse TT; Liao, Min-Tsun MT; Chen, Jien-Jiun JJ; Sherri Yeh, Shih-Fan SF; Chuang, Jing-Yuan JY; Yang, Dun-Hui DH; Lin, Jiunn-Lee JL; Lu, Tzu-Pin TP; Chuang, Eric Y EY; Ackerman, Michael J MJ
Publication Date: 2020-08

Variant appearance in text: rs2074518
PubMed Link: 32490690
Variant Present in the following documents:
  • Main text
  • hcg-13-e002797.pdf
  • hcg-13-e002797-s001.pdf
  • hcg-13-e002797-s002.pdf
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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: rs2074518
PubMed Link: 32386560
Variant Present in the following documents:
  • mmc8.pdf
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Genome-wide enriched pathway analysis of acute post-radiotherapy pain in breast cancer patients: a prospective cohort study.

Human Genomics
Lee, Eunkyung E; Takita, Cristiane C; Wright, Jean L JL; Slifer, Susan H SH; Martin, Eden R ER; Urbanic, James J JJ; Langefeld, Carl D CD; Lesser, Glenn J GJ; Shaw, Edward G EG; Hu, Jennifer J JJ
Publication Date: 2019-06-13

Variant appearance in text: rs2074518
PubMed Link: 31196165
Variant Present in the following documents:
  • Main text
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Trafficking of the human ether-a-go-go-related gene (hERG) potassium channel is regulated by the ubiquitin ligase rififylin (RFFL).

The Journal Of Biological Chemistry
Roder, Karim K; Kabakov, Anatoli A; Moshal, Karni S KS; Murphy, Kevin R KR; Xie, An A; Dudley, Samuel S; Turan, Nilüfer N NN; Lu, Yichun Y; MacRae, Calum A CA; Koren, Gideon G
Publication Date: 2019-01-04

Variant appearance in text: rs2074518
PubMed Link: 30401747
Variant Present in the following documents:
  • Main text
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ExomeChip-Wide Analysis of 95 626 Individuals Identifies 10 Novel Loci Associated With QT and JT Intervals.

Circulation. Genomic And Precision Medicine
Bihlmeyer, Nathan A NA; Brody, Jennifer A JA; Smith, Albert Vernon AV; Warren, Helen R HR; Lin, Honghuang H; Isaacs, Aaron A; Liu, Ching-Ti CT; Marten, Jonathan J; Radmanesh, Farid F; Hall, Leanne M LM; Grarup, Niels N; Mei, Hao H; Müller-Nurasyid, Martina M; Huffman, Jennifer E JE; Verweij, Niek N; Guo, Xiuqing X; Yao, Jie J; Li-Gao, Ruifang R; van den Berg, Marten M; Weiss, Stefan S; Prins, Bram P BP; van Setten, Jessica J; Haessler, Jeffrey J; Lyytikäinen, Leo-Pekka LP; Li, Man M; Alonso, Alvaro A; Soliman, Elsayed Z EZ; Bis, Joshua C JC; Austin, Tom T; Chen, Yii-Der Ida YI; Psaty, Bruce M BM; Harrris, Tamara B TB; Launer, Lenore J LJ; Padmanabhan, Sandosh S; Dominiczak, Anna A; Huang, Paul L PL; Xie, Zhijun Z; Ellinor, Patrick T PT; Kors, Jan A JA; Campbell, Archie A; Murray, Alison D AD; Nelson, Christopher P CP; Tobin, Martin D MD; Bork-Jensen, Jette J; Hansen, Torben T; Pedersen, Oluf O; Linneberg, Allan A; Sinner, Moritz F MF; Peters, Annette A; Waldenberger, Melanie M; Meitinger, Thomas T; Perz, Siegfried S; Kolcic, Ivana I; Rudan, Igor I; de Boer, Rudolf A RA; van der Meer, Peter P; Lin, Henry J HJ; Taylor, Kent D KD; de Mutsert, Renée R; Trompet, Stella S; Jukema, J Wouter JW; Maan, Arie C AC; Stricker, Bruno H C BHC; Rivadeneira, Fernando F; Uitterlinden, André A; Völker, Uwe U; Homuth, Georg G; Völzke, Henry H; Felix, Stephan B SB; Mangino, Massimo M; Spector, Timothy D TD; Bots, Michiel L ML; Perez, Marco M; Raitakari, Olli T OT; Kähönen, Mika M; Mononen, Nina N; Gudnason, Vilmundur V; Munroe, Patricia B PB; Lubitz, Steven A SA; van Duijn, Cornelia M CM; Newton-Cheh, Christopher H CH; Hayward, Caroline C; Rosand, Jonathan J; Samani, Nilesh J NJ; Kanters, Jørgen K JK; Wilson, James G JG; Kääb, Stefan S; Polasek, Ozren O; van der Harst, Pim P; Heckbert, Susan R SR; Rotter, Jerome I JI; Mook-Kanamori, Dennis O DO; Eijgelsheim, Mark M; Dörr, Marcus M; Jamshidi, Yalda Y; Asselbergs, Folkert W FW; Kooperberg, Charles C; Lehtimäki, Terho T; Arking, Dan E DE; Sotoodehnia, Nona N
Publication Date: 2018-01

Variant appearance in text: rs2074518
PubMed Link: 29874175
Variant Present in the following documents:
  • Main text
  • hcg-11-e001758.pdf
  • hcg-11-e001758-s001.pdf
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GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

Scientific Reports
Méndez-Giráldez, Raúl R; Gogarten, Stephanie M SM; Below, Jennifer E JE; Yao, Jie J; Seyerle, Amanda A AA; Highland, Heather M HM; Kooperberg, Charles C; Soliman, Elsayed Z EZ; Rotter, Jerome I JI; Kerr, Kathleen F KF; Ryckman, Kelli K KK; Taylor, Kent D KD; Petty, Lauren E LE; Shah, Sanjiv J SJ; Conomos, Matthew P MP; Sotoodehnia, Nona N; Cheng, Susan S; Heckbert, Susan R SR; Sofer, Tamar T; Guo, Xiuqing X; Whitsel, Eric A EA; Lin, Henry J HJ; Hanis, Craig L CL; Laurie, Cathy C CC; Avery, Christy L CL
Publication Date: 2017-12-06

Variant appearance in text: rs2074518
PubMed Link: 29213071
Variant Present in the following documents:
  • 41598_2017_17136_MOESM1_ESM.pdf
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iPSCORE: A Resource of 222 iPSC Lines Enabling Functional Characterization of Genetic Variation across a Variety of Cell Types.

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

Variant appearance in text: rs2074518
PubMed Link: 28410642
Variant Present in the following documents:
  • main.pdf
  • mmc7.pdf
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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: rs2074518
PubMed Link: 27988371
Variant Present in the following documents:
  • Main text
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Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.

Circulation. Cardiovascular Genetics
Kolder, Iris C R M ICRM; Tanck, Michael W T MWT; Postema, Pieter G PG; Barc, Julien J; Sinner, Moritz F MF; Zumhagen, Sven S; Husemann, Anja A; Stallmeyer, Birgit B; Koopmann, Tamara T TT; Hofman, Nynke N; Pfeufer, Arne A; Lichtner, Peter P; Meitinger, Thomas T; Beckmann, Britt M BM; Myerburg, Robert J RJ; Bishopric, Nanette H NH; Roden, Dan M DM; Kääb, Stefan S; Wilde, Arthur A M AAM; Schott, Jean-Jacques JJ; Schulze-Bahr, Eric E; Bezzina, Connie R CR
Publication Date: 2015-06

Variant appearance in text: rs2074518
PubMed Link: 25737393
Variant Present in the following documents:
  • Main text
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Evidence of heterogeneity by race/ethnicity in genetic determinants of QT interval.

Epidemiology (Cambridge, Mass.)
Seyerle, Amanda A AA; Young, Alicia M AM; Jeff, Janina M JM; Melton, Phillip E PE; Jorgensen, Neal W NW; Lin, Yi Y; Carty, Cara L CL; Deelman, Ewa E; Heckbert, Susan R SR; Hindorff, Lucia A LA; Jackson, Rebecca D RD; Martin, Lisa W LW; Okin, Peter M PM; Perez, Marco V MV; Psaty, Bruce M BM; Soliman, Elsayed Z EZ; Whitsel, Eric A EA; North, Kari E KE; Laston, Sandra S; Kooperberg, Charles C; Avery, Christy L CL
Publication Date: 2014-11

Variant appearance in text: rs2074518
PubMed Link: 25166880
Variant Present in the following documents:
  • Main text
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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: rs2074518
PubMed Link: 24846176
Variant Present in the following documents:
  • Main text
  • pone.0097380.pdf
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Arrhythmia risk in long QT syndrome: beyond the disease-causative mutation.

Circulation. Cardiovascular Genetics
Giudicessi, John R JR; Ackerman, Michael J MJ
Publication Date: 2013-08

Variant appearance in text: rs2074518
PubMed Link: 23963159
Variant Present in the following documents:
  • Main text
View BVdb publication page



Long QT syndrome: beyond the causal mutation.

The Journal Of Physiology
Amin, Ahmad S AS; Pinto, Yigal M YM; Wilde, Arthur A M AA
Publication Date: 2013-09-01

Variant appearance in text: rs2074518
PubMed Link: 23753525
Variant Present in the following documents:
  • Main text
View BVdb publication page



Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.

The Pharmacogenomics Journal
Avery, C L CL; Sitlani, C M CM; Arking, D E DE; Arnett, D K DK; Bis, J C JC; Boerwinkle, E E; Buckley, B M BM; Ida Chen, Y-D YD; de Craen, A J M AJ; Eijgelsheim, M M; Enquobahrie, D D; Evans, D S DS; Ford, I I; Garcia, M E ME; Gudnason, V V; Harris, T B TB; Heckbert, S R SR; Hochner, H H; Hofman, A A; Hsueh, W-C WC; Isaacs, A A; Jukema, J W JW; Knekt, P P; Kors, J A JA; Krijthe, B P BP; Kristiansson, K K; Laaksonen, M M; Liu, Y Y; Li, X X; Macfarlane, P W PW; Newton-Cheh, C C; Nieminen, M S MS; Oostra, B A BA; Peloso, G M GM; Porthan, K K; Rice, K K; Rivadeneira, F F FF; Rotter, J I JI; Salomaa, V V; Sattar, N N; Siscovick, D S DS; Slagboom, P E PE; Smith, A V AV; Sotoodehnia, N N; Stott, D J DJ; Stricker, B H BH; Stürmer, T T; Trompet, S S; Uitterlinden, A G AG; van Duijn, C C; Westendorp, R G J RG; Witteman, J C JC; Whitsel, E A EA; Psaty, B M BM
Publication Date: 2014-02

Variant appearance in text: rs2074518
PubMed Link: 23459443
Variant Present in the following documents:
  • Main text
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SNPs identified as modulators of ECG traits in the general population do not markedly affect ECG traits during acute myocardial infarction nor ventricular fibrillation risk in this condition.

Plos One
Pazoki, Raha R; de Jong, Jonas S S G JS; Marsman, Roos F RF; Bruinsma, Nienke N; Dekker, Lukas R C LR; Wilde, Arthur A M AA; Bezzina, Connie R CR; Tanck, Michael W T MW
Publication Date: 2013

Variant appearance in text: rs2074518
PubMed Link: 23437344
Variant Present in the following documents:
  • Main text
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Determinants of incomplete penetrance and variable expressivity in heritable cardiac arrhythmia syndromes.

Translational Research : The Journal Of Laboratory And Clinical Medicine
Giudicessi, John R JR; Ackerman, Michael J MJ
Publication Date: 2013-01

Variant appearance in text: rs2074518
PubMed Link: 22995932
Variant Present in the following documents:
  • Main text
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Fine-mapping and initial characterization of QT interval loci in African Americans.

Plos Genetics
Avery, Christy L CL; Sethupathy, Praveen P; Buyske, Steven S; He, Qianchuan Q; Lin, Dan-Yu DY; Arking, Dan E DE; Carty, Cara L CL; Duggan, David D; Fesinmeyer, Megan D MD; Hindorff, Lucia A LA; Jeff, Janina M JM; Klein, Liviu L; Patton, Kristen K KK; Peters, Ulrike U; Shohet, Ralph V RV; Sotoodehnia, Nona N; Young, Alicia M AM; Kooperberg, Charles C; Haiman, Christopher A CA; Mohlke, Karen L KL; Whitsel, Eric A EA; North, Kari E KE
Publication Date: 2012

Variant appearance in text: rs2074518
PubMed Link: 22912591
Variant Present in the following documents:
  • Main text
  • pgen.1002870.pdf
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Common genetic variants associated with sudden cardiac death: the FinSCDgen study.

Plos One
Lahtinen, Annukka M AM; Noseworthy, Peter A PA; Havulinna, Aki S AS; Jula, Antti A; Karhunen, Pekka J PJ; Kettunen, Johannes J; Perola, Markus M; Kontula, Kimmo K; Newton-Cheh, Christopher C; Salomaa, Veikko V
Publication Date: 2012

Variant appearance in text: rs2074518
PubMed Link: 22844511
Variant Present in the following documents:
  • Main text
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Epidemiology and genetics of sudden cardiac death.

Circulation
Deo, Rajat R; Albert, Christine M CM
Publication Date: 2012-01-31

Variant appearance in text: rs2074518
PubMed Link: 22294707
Variant Present in the following documents:
  • Main text
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Genetic variation in base excision repair pathway genes, pesticide exposure, and prostate cancer risk.

Environmental Health Perspectives
Barry, Kathryn Hughes KH; Koutros, Stella S; Berndt, Sonja I SI; Andreotti, Gabriella G; Hoppin, Jane A JA; Sandler, Dale P DP; Burdette, Laurie A LA; Yeager, Meredith M; Freeman, Laura E Beane LE; Lubin, Jay H JH; Ma, Xiaomei X; Zheng, Tongzhang T; Alavanja, Michael C R MC
Publication Date: 2011-12

Variant appearance in text: rs2074518
PubMed Link: 21810555
Variant Present in the following documents:
  • ehp.1103454.s001.pdf
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Novel genes for QTc interval. How much heritability is explained, and how much is left to find?

Genome Medicine
Jamshidi, Yalda Y; Nolte, Ilja M IM; Spector, Timothy D TD; Snieder, Harold H
Publication Date: 2010-05-27

Variant appearance in text: rs2074518
PubMed Link: 20519034
Variant Present in the following documents:
  • Main text
  • gm156.pdf
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Systems pharmacology of arrhythmias.

Science Signaling
Berger, Seth I SI; Ma'ayan, Avi A; Iyengar, Ravi R
Publication Date: 2010-04-20

Variant appearance in text: rs2074518
PubMed Link: 20407125
Variant Present in the following documents:
  • Main text
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Common variants at ten loci modulate the QT interval duration in the QTSCD Study.

Nature Genetics
Pfeufer, Arne A; Sanna, Serena S; Arking, Dan E DE; Müller, Martina M; Gateva, Vesela V; Fuchsberger, Christian C; Ehret, Georg B GB; Orrú, Marco M; Pattaro, Cristian C; Köttgen, Anna A; Perz, Siegfried S; Usala, Gianluca G; Barbalic, Maja M; Li, Man M; Pütz, Benno B; Scuteri, Angelo A; Prineas, Ronald J RJ; Sinner, Moritz F MF; Gieger, Christian C; Najjar, Samer S SS; Kao, W H Linda WH; Mühleisen, Thomas W TW; Dei, Mariano M; Happle, Christine C; Möhlenkamp, Stefan S; Crisponi, Laura L; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Naitza, Silvia S; Steinbeck, Gerhard G; Marroni, Fabio F; Hicks, Andrew A AA; Lakatta, Edward E; Müller-Myhsok, Bertram B; Pramstaller, Peter P PP; Wichmann, H-Erich HE; Schlessinger, David D; Boerwinkle, Eric E; Meitinger, Thomas T; Uda, Manuela M; Coresh, Josef J; Kääb, Stefan S; Abecasis, Gonçalo R GR; Chakravarti, Aravinda A
Publication Date: 2009-04

Variant appearance in text: rs2074518
PubMed Link: 19305409
Variant Present in the following documents:
  • Main text
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Common variants at ten loci influence QT interval duration in the QTGEN Study.

Nature Genetics
Newton-Cheh, Christopher C; Eijgelsheim, Mark M; Rice, Kenneth M KM; de Bakker, Paul I W PI; Yin, Xiaoyan X; Estrada, Karol K; Bis, Joshua C JC; Marciante, Kristin K; Rivadeneira, Fernando F; Noseworthy, Peter A PA; Sotoodehnia, Nona N; Smith, Nicholas L NL; Rotter, Jerome I JI; Kors, Jan A JA; Witteman, Jacqueline C M JC; Hofman, Albert A; Heckbert, Susan R SR; O'Donnell, Christopher J CJ; Uitterlinden, André G AG; Psaty, Bruce M BM; Lumley, Thomas T; Larson, Martin G MG; Stricker, Bruno H Ch BH
Publication Date: 2009-04

Variant appearance in text: rs2074518
PubMed Link: 19305408
Variant Present in the following documents:
  • Main text
  • NIHMS100620-supplement-1.pdf
  • nihms100620.pdf
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