KCNQ1 c.1515-119A>G

Variant ID: 11-2789955-A-G

NM_000218.2(KCNQ1):c.1515-119A>G

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Mutation analysis of the GSDME gene in a Chinese family with non-syndromic hearing loss.

Plos One
Lei, Peiliang P; Zhu, Qingwen Q; Dong, Wenrong W; Zhang, Siqi S; Sun, Yanyan Y; Du, Xitong X; Geng, Meng M; Jiang, Yuan Y
Publication Date: 2022

Variant appearance in text: rs163160
PubMed Link: 36350814
Variant Present in the following documents:
  • pone.0276233.s004.xlsx, sheet 1
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Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.

Cell Research
Zhang, Fan F; Zhang, Qilin Q; Zhu, Jiajun J; Yao, Boyuan B; Ma, Chi C; Qiao, Nidan N; He, Shiman S; Ye, Zhao Z; Wang, Yunzhi Y; Han, Rui R; Feng, Jinwen J; Wang, Yongfei Y; Qin, Zhaoyu Z; Ma, Zengyi Z; Li, Kai K; Zhang, Yichao Y; Tian, Sha S; Chen, Zhengyuan Z; Tan, Subei S; Wu, Yue Y; Ran, Peng P; Wang, Ye Y; Ding, Chen C; Zhao, Yao Y
Publication Date: 2022-12

Variant appearance in text: rs163160
PubMed Link: 36307579
Variant Present in the following documents:
  • 41422_2022_736_MOESM10_ESM.xlsx, sheet 3
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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs163160
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
  • 41439_2022_208_MOESM4_ESM.xlsx, sheet 2
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Polygenic risk scores predict diabetes complications and their response to intensive blood pressure and glucose control.

Diabetologia
Tremblay, Johanne J; Haloui, Mounsif M; Attaoua, Redha R; Tahir, Ramzan R; Hishmih, Camil C; Harvey, François F; Marois-Blanchet, François-Christophe FC; Long, Carole C; Simon, Paul P; Santucci, Lara L; Hizel, Candan C; Chalmers, John J; Marre, Michel M; Harrap, Stephen S; Cífková, Renata R; Krajčoviechová, Alena A; Matthews, David R DR; Williams, Bryan B; Poulter, Neil N; Zoungas, Sophia S; Colagiuri, Stephen S; Mancia, Giuseppe G; Grobbee, Diederick E DE; Rodgers, Anthony A; Liu, Liusheng L; Agbessi, Mawussé M; Bruat, Vanessa V; Favé, Marie-Julie MJ; Harwood, Michelle P MP; Awadalla, Philip P; Woodward, Mark M; Hussin, Julie G JG; Hamet, Pavel P
Publication Date: 2021-09

Variant appearance in text: rs163160
PubMed Link: 34226943
Variant Present in the following documents:
  • 125_2021_5491_MOESM1_ESM.pdf
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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics
Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F
Publication Date: 2021

Variant appearance in text: KCNQ1: 1515-119A>G; rs163160
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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Investigations of Kidney Dysfunction-Related Gene Variants in Sickle Cell Disease Patients in Cameroon (Sub-Saharan Africa).

Frontiers In Genetics
Ngo-Bitoungui, Valentina J VJ; Belinga, Suzanne S; Mnika, Khuthala K; Masekoameng, Tshepiso T; Nembaware, Victoria V; Essomba, René G RG; Ngo-Sack, Francoise F; Awandare, Gordon G; Mazandu, Gaston K GK; Wonkam, Ambroise A
Publication Date: 2021

Variant appearance in text: rs163160
PubMed Link: 33790942
Variant Present in the following documents:
  • Main text
  • fgene-12-595702.pdf
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Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

Nature Communications
Hellwege, Jacklyn N JN; Velez Edwards, Digna R DR; Giri, Ayush A; Qiu, Chengxiang C; Park, Jihwan J; Torstenson, Eric S ES; Keaton, Jacob M JM; Wilson, O D OD; Robinson-Cohen, Cassianne C; Chung, Cecilia P CP; Roumie, Christianne L CL; Klarin, Derek D; Damrauer, Scott M SM; DuVall, Scott L SL; Siew, Edward E; Akwo, Elvis A EA; Wuttke, Matthias M; Gorski, Mathias M; Li, Man M; Li, Yong Y; Gaziano, J Michael JM; Wilson, Peter W F PWF; Tsao, Philip S PS; O'Donnell, Christopher J CJ; Kovesdy, Csaba P CP; Pattaro, Cristian C; Köttgen, Anna A; Susztak, Katalin K; Edwards, Todd L TL; Hung, Adriana M AM
Publication Date: 2019-08-26

Variant appearance in text: rs163160
PubMed Link: 31451708
Variant Present in the following documents:
  • 41467_2019_11704_MOESM1_ESM.pdf
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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: KCNQ1: 1515-119A>G; rs163160
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

Scientific Reports
Gorski, Mathias M; van der Most, Peter J PJ; Teumer, Alexander A; Chu, Audrey Y AY; Li, Man M; Mijatovic, Vladan V; Nolte, Ilja M IM; Cocca, Massimiliano M; Taliun, Daniel D; Gomez, Felicia F; Li, Yong Y; Tayo, Bamidele B; Tin, Adrienne A; Feitosa, Mary F MF; Aspelund, Thor T; Attia, John J; Biffar, Reiner R; Bochud, Murielle M; Boerwinkle, Eric E; Borecki, Ingrid I; Bottinger, Erwin P EP; Chen, Ming-Huei MH; Chouraki, Vincent V; Ciullo, Marina M; Coresh, Josef J; Cornelis, Marilyn C MC; Curhan, Gary C GC; d'Adamo, Adamo Pio AP; Dehghan, Abbas A; Dengler, Laura L; Ding, Jingzhong J; Eiriksdottir, Gudny G; Endlich, Karlhans K; Enroth, Stefan S; Esko, Tõnu T; Franco, Oscar H OH; Gasparini, Paolo P; Gieger, Christian C; Girotto, Giorgia G; Gottesman, Omri O; Gudnason, Vilmundur V; Gyllensten, Ulf U; Hancock, Stephen J SJ; Harris, Tamara B TB; Helmer, Catherine C; Höllerer, Simon S; Hofer, Edith E; Hofman, Albert A; Holliday, Elizabeth G EG; Homuth, Georg G; Hu, Frank B FB; Huth, Cornelia C; Hutri-Kähönen, Nina N; Hwang, Shih-Jen SJ; Imboden, Medea M; Johansson, Åsa Å; Kähönen, Mika M; König, Wolfgang W; Kramer, Holly H; Krämer, Bernhard K BK; Kumar, Ashish A; Kutalik, Zoltan Z; Lambert, Jean-Charles JC; Launer, Lenore J LJ; Lehtimäki, Terho T; de Borst, Martin M; Navis, Gerjan G; Swertz, Morris M; Liu, Yongmei Y; Lohman, Kurt K; Loos, Ruth J F RJF; Lu, Yingchang Y; Lyytikäinen, Leo-Pekka LP; McEvoy, Mark A MA; Meisinger, Christa C; Meitinger, Thomas T; Metspalu, Andres A; Metzger, Marie M; Mihailov, Evelin E; Mitchell, Paul P; Nauck, Matthias M; Oldehinkel, Albertine J AJ; Olden, Matthias M; Wjh Penninx, Brenda B; Pistis, Giorgio G; Pramstaller, Peter P PP; Probst-Hensch, Nicole N; Raitakari, Olli T OT; Rettig, Rainer R; Ridker, Paul M PM; Rivadeneira, Fernando F; Robino, Antonietta A; Rosas, Sylvia E SE; Ruderfer, Douglas D; Ruggiero, Daniela D; Saba, Yasaman Y; Sala, Cinzia C; Schmidt, Helena H; Schmidt, Reinhold R; Scott, Rodney J RJ; Sedaghat, Sanaz S; Smith, Albert V AV; Sorice, Rossella R; Stengel, Benedicte B; Stracke, Sylvia S; Strauch, Konstantin K; Toniolo, Daniela D; Uitterlinden, Andre G AG; Ulivi, Sheila S; Viikari, Jorma S JS; Völker, Uwe U; Vollenweider, Peter P; Völzke, Henry H; Vuckovic, Dragana D; Waldenberger, Melanie M; Jin Wang, Jie J; Yang, Qiong Q; Chasman, Daniel I DI; Tromp, Gerard G; Snieder, Harold H; Heid, Iris M IM; Fox, Caroline S CS; Köttgen, Anna A; Pattaro, Cristian C; Böger, Carsten A CA; Fuchsberger, Christian C
Publication Date: 2017-04-28

Variant appearance in text: rs163160
PubMed Link: 28452372
Variant Present in the following documents:
  • srep45040-s1.pdf
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A genome-wide association meta-analysis on apolipoprotein A-IV concentrations.

Human Molecular Genetics
Lamina, Claudia C; Friedel, Salome S; Coassin, Stefan S; Rueedi, Rico R; Yousri, Noha A NA; Seppälä, Ilkka I; Gieger, Christian C; Schönherr, Sebastian S; Forer, Lukas L; Erhart, Gertraud G; Kollerits, Barbara B; Marques-Vidal, Pedro P; Ried, Janina J; Waeber, Gerard G; Bergmann, Sven S; Dähnhardt, Doreen D; Stöckl, Andrea A; Kiechl, Stefan S; Raitakari, Olli T OT; Kähönen, Mika M; Willeit, Johann J; Kedenko, Ludmilla L; Paulweber, Bernhard B; Peters, Annette A; Meitinger, Thomas T; Strauch, Konstantin K; , ; Lehtimäki, Terho T; Hunt, Steven C SC; Vollenweider, Peter P; Kronenberg, Florian F
Publication Date: 2016-08-15

Variant appearance in text: rs163160
PubMed Link: 27412012
Variant Present in the following documents:
  • supp_ddw211_GWA_apoA4_Supplement_Final.pdf
View BVdb publication page



Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

Nature Communications
Pattaro, Cristian C; Teumer, Alexander A; Gorski, Mathias M; Chu, Audrey Y AY; Li, Man M; Mijatovic, Vladan V; Garnaas, Maija M; Tin, Adrienne A; Sorice, Rossella R; Li, Yong Y; Taliun, Daniel D; Olden, Matthias M; Foster, Meredith M; Yang, Qiong Q; Chen, Ming-Huei MH; Pers, Tune H TH; Johnson, Andrew D AD; Ko, Yi-An YA; Fuchsberger, Christian C; Tayo, Bamidele B; Nalls, Michael M; Feitosa, Mary F MF; Isaacs, Aaron A; Dehghan, Abbas A; d'Adamo, Pio P; Adeyemo, Adebowale A; Dieffenbach, Aida Karina AK; Zonderman, Alan B AB; Nolte, Ilja M IM; van der Most, Peter J PJ; Wright, Alan F AF; Shuldiner, Alan R AR; Morrison, Alanna C AC; Hofman, Albert A; Smith, Albert V AV; Dreisbach, Albert W AW; Franke, Andre A; Uitterlinden, Andre G AG; Metspalu, Andres A; Tonjes, Anke A; Lupo, Antonio A; Robino, Antonietta A; Johansson, Åsa Å; Demirkan, Ayse A; Kollerits, Barbara B; Freedman, Barry I BI; Ponte, Belen B; Oostra, Ben A BA; Paulweber, Bernhard B; Krämer, Bernhard K BK; Mitchell, Braxton D BD; Buckley, Brendan M BM; Peralta, Carmen A CA; Hayward, Caroline C; Helmer, Catherine C; Rotimi, Charles N CN; Shaffer, Christian M CM; Müller, Christian C; Sala, Cinzia C; van Duijn, Cornelia M CM; Saint-Pierre, Aude A; Ackermann, Daniel D; Shriner, Daniel D; Ruggiero, Daniela D; Toniolo, Daniela D; Lu, Yingchang Y; Cusi, Daniele D; Czamara, Darina D; Ellinghaus, David D; Siscovick, David S DS; Ruderfer, Douglas D; Gieger, Christian C; Grallert, Harald H; Rochtchina, Elena E; Atkinson, Elizabeth J EJ; Holliday, Elizabeth G EG; Boerwinkle, Eric E; Salvi, Erika E; Bottinger, Erwin P EP; Murgia, Federico F; Rivadeneira, Fernando F; Ernst, Florian F; Kronenberg, Florian F; Hu, Frank B FB; Navis, Gerjan J GJ; Curhan, Gary C GC; Ehret, George B GB; Homuth, Georg G; Coassin, Stefan S; Thun, Gian-Andri GA; Pistis, Giorgio G; Gambaro, Giovanni G; Malerba, Giovanni G; Montgomery, Grant W GW; Eiriksdottir, Gudny G; Jacobs, Gunnar G; Li, Guo G; Wichmann, H-Erich HE; Campbell, Harry H; Schmidt, Helena H; Wallaschofski, Henri H; Völzke, Henry H; Brenner, Hermann H; Kroemer, Heyo K HK; Kramer, Holly H; Lin, Honghuang H; Leach, I Mateo IM; Ford, Ian I; Guessous, Idris I; Rudan, Igor I; Prokopenko, Inga I; Borecki, Ingrid I; Heid, Iris M IM; Kolcic, Ivana I; Persico, Ivana I; Jukema, J Wouter JW; Wilson, James F JF; Felix, Janine F JF; Divers, Jasmin J; Lambert, Jean-Charles JC; Stafford, Jeanette M JM; Gaspoz, Jean-Michel JM; Smith, Jennifer A JA; Faul, Jessica D JD; Wang, Jie Jin JJ; Ding, Jingzhong J; Hirschhorn, Joel N JN; Attia, John J; Whitfield, John B JB; Chalmers, John J; Viikari, Jorma J; Coresh, Josef J; Denny, Joshua C JC; Karjalainen, Juha J; Fernandes, Jyotika K JK; Endlich, Karlhans K; Butterbach, Katja K; Keene, Keith L KL; Lohman, Kurt K; Portas, Laura L; Launer, Lenore J LJ; Lyytikäinen, Leo-Pekka LP; Yengo, Loic L; Franke, Lude L; Ferrucci, Luigi L; Rose, Lynda M LM; Kedenko, Lyudmyla L; Rao, Madhumathi M; Struchalin, Maksim M; Kleber, Marcus E ME; Cavalieri, Margherita M; Haun, Margot M; Cornelis, Marilyn C MC; Ciullo, Marina M; Pirastu, Mario M; de Andrade, Mariza M; McEvoy, Mark A MA; Woodward, Mark M; Adam, Martin M; Cocca, Massimiliano M; Nauck, Matthias M; Imboden, Medea M; Waldenberger, Melanie M; Pruijm, Menno M; Metzger, Marie M; Stumvoll, Michael M; Evans, Michele K MK; Sale, Michele M MM; Kähönen, Mika M; Boban, Mladen M; Bochud, Murielle M; Rheinberger, Myriam M; Verweij, Niek N; Bouatia-Naji, Nabila N; Martin, Nicholas G NG; Hastie, Nick N; Probst-Hensch, Nicole N; Soranzo, Nicole N; Devuyst, Olivier O; Raitakari, Olli O; Gottesman, Omri O; Franco, Oscar H OH; Polasek, Ozren O; Gasparini, Paolo P; Munroe, Patricia B PB; Ridker, Paul M PM; Mitchell, Paul P; Muntner, Paul P; Meisinger, Christa C; Smit, Johannes H JH; , ; , ; , ; , ; , ; Kovacs, Peter P; Wild, Philipp S PS; Froguel, Philippe P; Rettig, Rainer R; Mägi, Reedik R; Biffar, Reiner R; Schmidt, Reinhold R; Middelberg, Rita P S RP; Carroll, Robert J RJ; Penninx, Brenda W BW; Scott, Rodney J RJ; Katz, Ronit R; Sedaghat, Sanaz S; Wild, Sarah H SH; Kardia, Sharon L R SL; Ulivi, Sheila S; Hwang, Shih-Jen SJ; Enroth, Stefan S; Kloiber, Stefan S; Trompet, Stella S; Stengel, Benedicte B; Hancock, Stephen J SJ; Turner, Stephen T ST; Rosas, Sylvia E SE; Stracke, Sylvia S; Harris, Tamara B TB; Zeller, Tanja T; Zemunik, Tatijana T; Lehtimäki, Terho T; Illig, Thomas T; Aspelund, Thor T; Nikopensius, Tiit T; Esko, Tonu T; Tanaka, Toshiko T; Gyllensten, Ulf U; Völker, Uwe U; Emilsson, Valur V; Vitart, Veronique V; Aalto, Ville V; Gudnason, Vilmundur V; Chouraki, Vincent V; Chen, Wei-Min WM; Igl, Wilmar W; März, Winfried W; Koenig, Wolfgang W; Lieb, Wolfgang W; Loos, Ruth J F RJ; Liu, Yongmei Y; Snieder, Harold H; Pramstaller, Peter P PP; Parsa, Afshin A; O'Connell, Jeffrey R JR; Susztak, Katalin K; Hamet, Pavel P; Tremblay, Johanne J; de Boer, Ian H IH; Böger, Carsten A CA; Goessling, Wolfram W; Chasman, Daniel I DI; Köttgen, Anna A; Kao, W H Linda WH; Fox, Caroline S CS
Publication Date: 2016-01-21

Variant appearance in text: rs163160
PubMed Link: 26831199
Variant Present in the following documents:
  • Main text
  • ncomms10023.pdf
  • ncomms10023-s1.pdf
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Polymorphisms but not mutations of the KCNQ1 gene are associated with lone atrial fibrillation in the Chinese Han population.

Thescientificworldjournal
Chu, Hui-min HM; Feng, Ming-jun MJ; Li, Yi-gang YG; Zhang, Yi-xin YX; Ma, Ji-fang JF; He, Bin B; Yu, Yi-bo YB; Liu, Jing J; Chen, Xiao-min XM
Publication Date: 2013

Variant appearance in text: rs163160
PubMed Link: 23710137
Variant Present in the following documents:
  • Main text
  • TSWJ2013-373454.pdf
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Overlap between common genetic polymorphisms underpinning kidney traits and cardiovascular disease phenotypes: the CKDGen consortium.

American Journal Of Kidney Diseases : The Official Journal Of The National Kidney Foundation
Olden, Matthias M; Teumer, Alexander A; Bochud, Murielle M; Pattaro, Cristian C; Köttgen, Anna A; Turner, Stephen T ST; Rettig, Rainer R; Chen, Ming-Huei MH; Dehghan, Abbas A; Bastardot, Francois F; Schmidt, Reinhold R; Vollenweider, Peter P; Schunkert, Heribert H; Reilly, Muredach P MP; Fornage, Myriam M; Launer, Lenore J LJ; Verwoert, Germaine C GC; Mitchell, Gary F GF; Bis, Joshua C JC; O'Donnell, Christopher J CJ; Cheng, Ching-Yu CY; Sim, Xueling X; Siscovick, David S DS; Coresh, Josef J; Kao, W H Linda WH; Fox, Caroline S CS; O'Seaghdha, Conall M CM; ,
Publication Date: 2013-06

Variant appearance in text: rs163160
PubMed Link: 23474010
Variant Present in the following documents:
  • Main text
View BVdb publication page