CD46 c.857-271T>A

Variant ID: 1-207940853-T-A

NM_172351.2(CD46):c.857-271T>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: rs11118555
PubMed Link: 34054912
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
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Minor allele of GJA1 gene polymorphism is associated with higher heart rate during atrial fibrillation.

Scientific Reports
Okamura, Sho S; Onohara, Yuko Y; Ochi, Hidenori H; Tokuyama, Takehito T; Hironobe, Naoya N; Okubo, Yosaku Y; Ikeuchi, Yoshihiro Y; Miyauchi, Shunsuke S; Chayama, Kazuaki K; Kihara, Yasuki Y; Nakano, Yukiko Y
Publication Date: 2021-01-28

Variant appearance in text: rs11118555
PubMed Link: 33510344
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_82117.pdf
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Genomics of Cardiovascular Measures of Autonomic Tone.

Journal Of Cardiovascular Pharmacology
Sigurdsson, Martin I MI; Waldron, Nathan H NH; Bortsov, Andrey V AV; Smith, Shad B SB; Maixner, William W
Publication Date: 2018-03

Variant appearance in text: rs11118555
PubMed Link: 29300220
Variant Present in the following documents:
  • Main text
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Genetic loci associated with heart rate variability and their effects on cardiac disease risk.

Nature Communications
Nolte, Ilja M IM; Munoz, M Loretto ML; Tragante, Vinicius V; Amare, Azmeraw T AT; Jansen, Rick R; Vaez, Ahmad A; von der Heyde, Benedikt B; Avery, Christy L CL; Bis, Joshua C JC; Dierckx, Bram B; van Dongen, Jenny J; Gogarten, Stephanie M SM; Goyette, Philippe P; Hernesniemi, Jussi J; Huikari, Ville V; Hwang, Shih-Jen SJ; Jaju, Deepali D; Kerr, Kathleen F KF; Kluttig, Alexander A; Krijthe, Bouwe P BP; Kumar, Jitender J; van der Laan, Sander W SW; Lyytikäinen, Leo-Pekka LP; Maihofer, Adam X AX; Minassian, Arpi A; van der Most, Peter J PJ; Müller-Nurasyid, Martina M; Nivard, Michel M; Salvi, Erika E; Stewart, James D JD; Thayer, Julian F JF; Verweij, Niek N; Wong, Andrew A; Zabaneh, Delilah D; Zafarmand, Mohammad H MH; Abdellaoui, Abdel A; Albarwani, Sulayma S; Albert, Christine C; Alonso, Alvaro A; Ashar, Foram F; Auvinen, Juha J; Axelsson, Tomas T; Baker, Dewleen G DG; de Bakker, Paul I W PIW; Barcella, Matteo M; Bayoumi, Riad R; Bieringa, Rob J RJ; Boomsma, Dorret D; Boucher, Gabrielle G; Britton, Annie R AR; Christophersen, Ingrid I; Dietrich, Andrea A; Ehret, George B GB; Ellinor, Patrick T PT; Eskola, Markku M; Felix, Janine F JF; Floras, John S JS; Franco, Oscar H OH; Friberg, Peter P; Gademan, Maaike G J MGJ; Geyer, Mark A MA; Giedraitis, Vilmantas V; Hartman, Catharina A CA; Hemerich, Daiane D; Hofman, Albert A; Hottenga, Jouke-Jan JJ; Huikuri, Heikki H; Hutri-Kähönen, Nina N; Jouven, Xavier X; Junttila, Juhani J; Juonala, Markus M; Kiviniemi, Antti M AM; Kors, Jan A JA; Kumari, Meena M; Kuznetsova, Tatiana T; Laurie, Cathy C CC; Lefrandt, Joop D JD; Li, Yong Y; Li, Yun Y; Liao, Duanping D; Limacher, Marian C MC; Lin, Henry J HJ; Lindgren, Cecilia M CM; Lubitz, Steven A SA; Mahajan, Anubha A; McKnight, Barbara B; Zu Schwabedissen, Henriette Meyer HM; Milaneschi, Yuri Y; Mononen, Nina N; Morris, Andrew P AP; Nalls, Mike A MA; Navis, Gerjan G; Neijts, Melanie M; Nikus, Kjell K; North, Kari E KE; O'Connor, Daniel T DT; Ormel, Johan J; Perz, Siegfried S; Peters, Annette A; Psaty, Bruce M BM; Raitakari, Olli T OT; Risbrough, Victoria B VB; Sinner, Moritz F MF; Siscovick, David D; Smit, Johannes H JH; Smith, Nicholas L NL; Soliman, Elsayed Z EZ; Sotoodehnia, Nona N; Staessen, Jan A JA; Stein, Phyllis K PK; Stilp, Adrienne M AM; Stolarz-Skrzypek, Katarzyna K; Strauch, Konstantin K; Sundström, Johan J; Swenne, Cees A CA; Syvänen, Ann-Christine AC; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thornton, Timothy A TA; Tinker, Lesley E LE; Uitterlinden, André G AG; van Setten, Jessica J; Voss, Andreas A; Waldenberger, Melanie M; Wilhelmsen, Kirk C KC; Willemsen, Gonneke G; Wong, Quenna Q; Zhang, Zhu-Ming ZM; Zonderman, Alan B AB; Cusi, Daniele D; Evans, Michele K MK; Greiser, Halina K HK; van der Harst, Pim P; Hassan, Mohammad M; Ingelsson, Erik E; Järvelin, Marjo-Riitta MR; Kääb, Stefan S; Kähönen, Mika M; Kivimaki, Mika M; Kooperberg, Charles C; Kuh, Diana D; Lehtimäki, Terho T; Lind, Lars L; Nievergelt, Caroline M CM; O'Donnell, Chris J CJ; Oldehinkel, Albertine J AJ; Penninx, Brenda B; Reiner, Alexander P AP; Riese, Harriëtte H; van Roon, Arie M AM; Rioux, John D JD; Rotter, Jerome I JI; Sofer, Tamar T; Stricker, Bruno H BH; Tiemeier, Henning H; Vrijkotte, Tanja G M TGM; Asselbergs, Folkert W FW; Brundel, Bianca J J M BJJM; Heckbert, Susan R SR; Whitsel, Eric A EA; den Hoed, Marcel M; Snieder, Harold H; de Geus, Eco J C EJC
Publication Date: 2017-06-14

Variant appearance in text: rs11118555
PubMed Link: 28613276
Variant Present in the following documents:
  • ncomms15805-s1.pdf
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Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.

Nature Genetics
den Hoed, Marcel M; Eijgelsheim, Mark M; Esko, Tõnu T; Brundel, Bianca J J M BJ; Peal, David S DS; Evans, David M DM; Nolte, Ilja M IM; Segrè, Ayellet V AV; Holm, Hilma H; Handsaker, Robert E RE; Westra, Harm-Jan HJ; Johnson, Toby T; Isaacs, Aaron A; Yang, Jian J; Lundby, Alicia A; Zhao, Jing Hua JH; Kim, Young Jin YJ; Go, Min Jin MJ; Almgren, Peter P; Bochud, Murielle M; Boucher, Gabrielle G; Cornelis, Marilyn C MC; Gudbjartsson, Daniel D; Hadley, David D; van der Harst, Pim P; Hayward, Caroline C; den Heijer, Martin M; Igl, Wilmar W; Jackson, Anne U AU; Kutalik, Zoltán Z; Luan, Jian'an J; Kemp, John P JP; Kristiansson, Kati K; Ladenvall, Claes C; Lorentzon, Mattias M; Montasser, May E ME; Njajou, Omer T OT; O'Reilly, Paul F PF; Padmanabhan, Sandosh S; St Pourcain, Beate B; Rankinen, Tuomo T; Salo, Perttu P; Tanaka, Toshiko T; Timpson, Nicholas J NJ; Vitart, Veronique V; Waite, Lindsay L; Wheeler, William W; Zhang, Weihua W; Draisma, Harmen H M HH; Feitosa, Mary F MF; Kerr, Kathleen F KF; Lind, Penelope A PA; Mihailov, Evelin E; Onland-Moret, N Charlotte NC; Song, Ci C; Weedon, Michael N MN; Xie, Weijia W; Yengo, Loic L; Absher, Devin D; Albert, Christine M CM; Alonso, Alvaro A; Arking, Dan E DE; de Bakker, Paul I W PI; Balkau, Beverley B; Barlassina, Cristina C; Benaglio, Paola P; Bis, Joshua C JC; Bouatia-Naji, Nabila N; Brage, Søren S; Chanock, Stephen J SJ; Chines, Peter S PS; Chung, Mina M; Darbar, Dawood D; Dina, Christian C; Dörr, Marcus M; Elliott, Paul P; Felix, Stephan B SB; Fischer, Krista K; Fuchsberger, Christian C; de Geus, Eco J C EJ; Goyette, Philippe P; Gudnason, Vilmundur V; Harris, Tamara B TB; Hartikainen, Anna-Liisa AL; Havulinna, Aki S AS; Heckbert, Susan R SR; Hicks, Andrew A AA; Hofman, Albert A; Holewijn, Suzanne S; Hoogstra-Berends, Femke F; Hottenga, Jouke-Jan JJ; Jensen, Majken K MK; Johansson, Asa A; Junttila, Juhani J; Kääb, Stefan S; Kanon, Bart B; Ketkar, Shamika S; Khaw, Kay-Tee KT; Knowles, Joshua W JW; Kooner, Angrad S AS; Kors, Jan A JA; Kumari, Meena M; Milani, Lili L; Laiho, Päivi P; Lakatta, Edward G EG; Langenberg, Claudia C; Leusink, Maarten M; Liu, Yongmei Y; Luben, Robert N RN; Lunetta, Kathryn L KL; Lynch, Stacey N SN; Markus, Marcello R P MR; Marques-Vidal, Pedro P; Mateo Leach, Irene I; McArdle, Wendy L WL; McCarroll, Steven A SA; Medland, Sarah E SE; Miller, Kathryn A KA; Montgomery, Grant W GW; Morrison, Alanna C AC; Müller-Nurasyid, Martina M; Navarro, Pau P; Nelis, Mari M; O'Connell, Jeffrey R JR; O'Donnell, Christopher J CJ; Ong, Ken K KK; Newman, Anne B AB; Peters, Annette A; Polasek, Ozren O; Pouta, Anneli A; Pramstaller, Peter P PP; Psaty, Bruce M BM; Rao, Dabeeru C DC; Ring, Susan M SM; Rossin, Elizabeth J EJ; Rudan, Diana D; Sanna, Serena S; Scott, Robert A RA; Sehmi, Jaban S JS; Sharp, Stephen S; Shin, Jordan T JT; Singleton, Andrew B AB; Smith, Albert V AV; Soranzo, Nicole N; Spector, Tim D TD; Stewart, Chip C; Stringham, Heather M HM; Tarasov, Kirill V KV; Uitterlinden, André G AG; Vandenput, Liesbeth L; Hwang, Shih-Jen SJ; Whitfield, John B JB; Wijmenga, Cisca C; Wild, Sarah H SH; Willemsen, Gonneke G; Wilson, James F JF; Witteman, Jacqueline C M JC; Wong, Andrew A; Wong, Quenna Q; Jamshidi, Yalda Y; Zitting, Paavo P; Boer, Jolanda M A JM; Boomsma, Dorret I DI; Borecki, Ingrid B IB; van Duijn, Cornelia M CM; Ekelund, Ulf U; Forouhi, Nita G NG; Froguel, Philippe P; Hingorani, Aroon A; Ingelsson, Erik E; Kivimaki, Mika M; Kronmal, Richard A RA; Kuh, Diana D; Lind, Lars L; Martin, Nicholas G NG; Oostra, Ben A BA; Pedersen, Nancy L NL; Quertermous, Thomas T; Rotter, Jerome I JI; van der Schouw, Yvonne T YT; Verschuren, W M Monique WM; Walker, Mark M; Albanes, Demetrius D; Arnar, David O DO; Assimes, Themistocles L TL; Bandinelli, Stefania S; Boehnke, Michael M; de Boer, Rudolf A RA; Bouchard, Claude C; Caulfield, W L Mark WL; Chambers, John C JC; Curhan, Gary G; Cusi, Daniele D; Eriksson, Johan J; Ferrucci, Luigi L; van Gilst, Wiek H WH; Glorioso, Nicola N; de Graaf, Jacqueline J; Groop, Leif L; Gyllensten, Ulf U; Hsueh, Wen-Chi WC; Hu, Frank B FB; Huikuri, Heikki V HV; Hunter, David J DJ; Iribarren, Carlos C; Isomaa, Bo B; Jarvelin, Marjo-Riitta MR; Jula, Antti A; Kähönen, Mika M; Kiemeney, Lambertus A LA; van der Klauw, Melanie M MM; Kooner, Jaspal S JS; Kraft, Peter P; Iacoviello, Licia L; Lehtimäki, Terho T; Lokki, Marja-Liisa L ML; Mitchell, Braxton D BD; Navis, Gerjan G; Nieminen, Markku S MS; Ohlsson, Claes C; Poulter, Neil R NR; Qi, Lu L; Raitakari, Olli T OT; Rimm, Eric B EB; Rioux, John D JD; Rizzi, Federica F; Rudan, Igor I; Salomaa, Veikko V; Sever, Peter S PS; Shields, Denis C DC; Shuldiner, Alan R AR; Sinisalo, Juha J; Stanton, Alice V AV; Stolk, Ronald P RP; Strachan, David P DP; Tardif, Jean-Claude JC; Thorsteinsdottir, Unnur U; Tuomilehto, Jaako J; van Veldhuisen, Dirk J DJ; Virtamo, Jarmo J; Viikari, Jorma J; Vollenweider, Peter P; Waeber, Gérard G; Widen, Elisabeth E; Cho, Yoon Shin YS; Olsen, Jesper V JV; Visscher, Peter M PM; Willer, Cristen C; Franke, Lude L; , ; , ; Erdmann, Jeanette J; Thompson, John R JR; , ; Pfeufer, Arne A; , ; Sotoodehnia, Nona N; , ; Newton-Cheh, Christopher C; , ; Ellinor, Patrick T PT; Stricker, Bruno H Ch BH; Metspalu, Andres A; Perola, Markus M; Beckmann, Jacques S JS; Smith, George Davey GD; Stefansson, Kari K; Wareham, Nicholas J NJ; Munroe, Patricia B PB; Sibon, Ody C M OC; Milan, David J DJ; Snieder, Harold H; Samani, Nilesh J NJ; Loos, Ruth J F RJ
Publication Date: 2013-06

Variant appearance in text: rs11118555
PubMed Link: 23583979
Variant Present in the following documents:
  • Main text
View BVdb publication page