NOS1AP c.177+8851G>A

Variant ID: 1-162133117-G-A

NM_014697.2(NOS1AP):c.177+8851G>A

This variant was identified in 20 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: rs12029454
PubMed Link: 34113909
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: rs12029454
PubMed Link: 32490690
Variant Present in the following documents:
  • hcg-13-e002797-s001.pdf
View BVdb publication page



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: rs12029454
PubMed Link: 29874175
Variant Present in the following documents:
  • hcg-11-e001758-s001.pdf
View BVdb publication page



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: rs12029454
PubMed Link: 29213071
Variant Present in the following documents:
  • 41598_2017_17136_MOESM1_ESM.pdf
View BVdb publication page



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: rs12029454
PubMed Link: 28410642
Variant Present in the following documents:
  • mmc7.pdf
  • main.pdf
View BVdb publication page



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: rs12029454
PubMed Link: 27988371
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nitric Oxide Synthase 1 Adaptor Protein, an Emerging New Genetic Marker for QT Prolongation and Sudden Cardiac Death.

Acta Cardiologica Sinica
Chang, Kuan-Cheng KC; Sasano, Tetsuo T; Wang, Yu-Chen YC; Huang, Shoei K Stephen SK
Publication Date: 2013-05

Variant appearance in text: rs12029454
PubMed Link: 27122710
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs12029454
PubMed Link: 25737393
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs12029454
PubMed Link: 25166880
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs12029454
PubMed Link: 23963159
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.

Circulation. Cardiovascular Genetics
Duchatelet, Sabine S; Crotti, Lia L; Peat, Rachel A RA; Denjoy, Isabelle I; Itoh, Hideki H; Berthet, Myriam M; Ohno, Seiko S; Fressart, Véronique V; Monti, Maria Cristina MC; Crocamo, Cristina C; Pedrazzini, Matteo M; Dagradi, Federica F; Vicentini, Alessandro A; Klug, Didier D; Brink, Paul A PA; Goosen, Althea A; Swan, Heikki H; Toivonen, Lauri L; Lahtinen, Annukka M AM; Kontula, Kimmo K; Shimizu, Wataru W; Horie, Minoru M; George, Alfred L AL; Trégouët, David-Alexandre DA; Guicheney, Pascale P; Schwartz, Peter J PJ
Publication Date: 2013-08

Variant appearance in text: rs12029454
PubMed Link: 23856471
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: rs12029454
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: rs12029454
PubMed Link: 23459443
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs12029454
PubMed Link: 23437344
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of ancestry and common genetic variants on QT interval in African Americans.

Circulation. Cardiovascular Genetics
Smith, J Gustav JG; Avery, Christy L CL; Evans, Daniel S DS; Nalls, Michael A MA; Meng, Yan A YA; Smith, Erin N EN; Palmer, Cameron C; Tanaka, Toshiko T; Mehra, Reena R; Butler, Anne M AM; Young, Taylor T; Buxbaum, Sarah G SG; Kerr, Kathleen F KF; Berenson, Gerald S GS; Schnabel, Renate B RB; Li, Guo G; Ellinor, Patrick T PT; Magnani, Jared W JW; Chen, Wei W; Bis, Joshua C JC; Curb, J David JD; Hsueh, Wen-Chi WC; Rotter, Jerome I JI; Liu, Yongmei Y; Newman, Anne B AB; Limacher, Marian C MC; North, Kari E KE; Reiner, Alexander P AP; Quibrera, P Miguel PM; Schork, Nicholas J NJ; Singleton, Andrew B AB; Psaty, Bruce M BM; Soliman, Elsayed Z EZ; Solomon, Allen J AJ; Srinivasan, Sathanur R SR; Alonso, Alvaro A; Wallace, Robert R; Redline, Susan S; Zhang, Zhu-Ming ZM; Post, Wendy S WS; Zonderman, Alan B AB; Taylor, Herman A HA; Murray, Sarah S SS; Ferrucci, Luigi L; Arking, Dan E DE; Evans, Michele K MK; Fox, Ervin R ER; Sotoodehnia, Nona N; Heckbert, Susan R SR; Whitsel, Eric A EA; Newton-Cheh, Christopher C; ,
Publication Date: 2012-12

Variant appearance in text: rs12029454
PubMed Link: 23166209
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs12029454
PubMed Link: 22995932
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs12029454
PubMed Link: 22912591
Variant Present in the following documents:
  • Main text
  • pgen.1002870.pdf
View BVdb publication page



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: rs12029454
PubMed Link: 20407125
Variant Present in the following documents:
  • Main text
View BVdb publication page



Origins and functional impact of copy number variation in the human genome.

Nature
Conrad, Donald F DF; Pinto, Dalila D; Redon, Richard R; Feuk, Lars L; Gokcumen, Omer O; Zhang, Yujun Y; Aerts, Jan J; Andrews, T Daniel TD; Barnes, Chris C; Campbell, Peter P; Fitzgerald, Tomas T; Hu, Min M; Ihm, Chun Hwa CH; Kristiansson, Kati K; Macarthur, Daniel G DG; Macdonald, Jeffrey R JR; Onyiah, Ifejinelo I; Pang, Andy Wing Chun AW; Robson, Sam S; Stirrups, Kathy K; Valsesia, Armand A; Walter, Klaudia K; Wei, John J; , ; Tyler-Smith, Chris C; Carter, Nigel P NP; Lee, Charles C; Scherer, Stephen W SW; Hurles, Matthew E ME
Publication Date: 2010-04-01

Variant appearance in text: rs12029454
PubMed Link: 19812545
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: rs12029454
PubMed Link: 19305408
Variant Present in the following documents:
  • Main text
  • nihms100620.pdf
  • NIHMS100620-supplement-1.pdf
View BVdb publication page