EIF2AK3 c.308+1863A>G

Variant ID: 2-88924622-T-C

NM_004836.5(EIF2AK3):c.308+1863A>G

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genetic architecture of subcortical brain structures in 38,851 individuals.

Nature Genetics
Satizabal, Claudia L CL; Adams, Hieab H H HHH; Hibar, Derrek P DP; White, Charles C CC; Knol, Maria J MJ; Stein, Jason L JL; Scholz, Markus M; Sargurupremraj, Muralidharan M; Jahanshad, Neda N; Roshchupkin, Gennady V GV; Smith, Albert V AV; Bis, Joshua C JC; Jian, Xueqiu X; Luciano, Michelle M; Hofer, Edith E; Teumer, Alexander A; van der Lee, Sven J SJ; Yang, Jingyun J; Yanek, Lisa R LR; Lee, Tom V TV; Li, Shuo S; Hu, Yanhui Y; Koh, Jia Yu JY; Eicher, John D JD; Desrivières, Sylvane S; Arias-Vasquez, Alejandro A; Chauhan, Ganesh G; Athanasiu, Lavinia L; Rentería, Miguel E ME; Kim, Sungeun S; Hoehn, David D; Armstrong, Nicola J NJ; Chen, Qiang Q; Holmes, Avram J AJ; den Braber, Anouk A; Kloszewska, Iwona I; Andersson, Micael M; Espeseth, Thomas T; Grimm, Oliver O; Abramovic, Lucija L; Alhusaini, Saud S; Milaneschi, Yuri Y; Papmeyer, Martina M; Axelsson, Tomas T; Ehrlich, Stefan S; Roiz-Santiañez, Roberto R; Kraemer, Bernd B; Håberg, Asta K AK; Jones, Hannah J HJ; Pike, G Bruce GB; Stein, Dan J DJ; Stevens, Allison A; Bralten, Janita J; Vernooij, Meike W MW; Harris, Tamara B TB; Filippi, Irina I; Witte, A Veronica AV; Guadalupe, Tulio T; Wittfeld, Katharina K; Mosley, Thomas H TH; Becker, James T JT; Doan, Nhat Trung NT; Hagenaars, Saskia P SP; Saba, Yasaman Y; Cuellar-Partida, Gabriel G; Amin, Najaf N; Hilal, Saima S; Nho, Kwangsik K; Mirza-Schreiber, Nazanin N; Arfanakis, Konstantinos K; Becker, Diane M DM; Ames, David D; Goldman, Aaron L AL; Lee, Phil H PH; Boomsma, Dorret I DI; Lovestone, Simon S; Giddaluru, Sudheer S; Le Hellard, Stephanie S; Mattheisen, Manuel M; Bohlken, Marc M MM; Kasperaviciute, Dalia D; Schmaal, Lianne L; Lawrie, Stephen M SM; Agartz, Ingrid I; Walton, Esther E; Tordesillas-Gutierrez, Diana D; Davies, Gareth E GE; Shin, Jean J; Ipser, Jonathan C JC; Vinke, Louis N LN; Hoogman, Martine M; Jia, Tianye T; Burkhardt, Ralph R; Klein, Marieke M; Crivello, Fabrice F; Janowitz, Deborah D; Carmichael, Owen O; Haukvik, Unn K UK; Aribisala, Benjamin S BS; Schmidt, Helena H; Strike, Lachlan T LT; Cheng, Ching-Yu CY; Risacher, Shannon L SL; Pütz, Benno B; Fleischman, Debra A DA; Assareh, Amelia A AA; Mattay, Venkata S VS; Buckner, Randy L RL; Mecocci, Patrizia P; Dale, Anders M AM; Cichon, Sven S; Boks, Marco P MP; Matarin, Mar M; Penninx, Brenda W J H BWJH; Calhoun, Vince D VD; Chakravarty, M Mallar MM; Marquand, Andre F AF; Macare, Christine C; Kharabian Masouleh, Shahrzad S; Oosterlaan, Jaap J; Amouyel, Philippe P; Hegenscheid, Katrin K; Rotter, Jerome I JI; Schork, Andrew J AJ; Liewald, David C M DCM; de Zubicaray, Greig I GI; Wong, Tien Yin TY; Shen, Li L; Sämann, Philipp G PG; Brodaty, Henry H; Roffman, Joshua L JL; de Geus, Eco J C EJC; Tsolaki, Magda M; Erk, Susanne S; van Eijk, Kristel R KR; Cavalleri, Gianpiero L GL; van der Wee, Nic J A NJA; McIntosh, Andrew M AM; Gollub, Randy L RL; Bulayeva, Kazima B KB; Bernard, Manon M; Richards, Jennifer S JS; Himali, Jayandra J JJ; Loeffler, Markus M; Rommelse, Nanda N; Hoffmann, Wolfgang W; Westlye, Lars T LT; Valdés Hernández, Maria C MC; Hansell, Narelle K NK; van Erp, Theo G M TGM; Wolf, Christiane C; Kwok, John B J JBJ; Vellas, Bruno B; Heinz, Andreas A; Olde Loohuis, Loes M LM; Delanty, Norman N; Ho, Beng-Choon BC; Ching, Christopher R K CRK; Shumskaya, Elena E; Singh, Baljeet B; Hofman, Albert A; van der Meer, Dennis D; Homuth, Georg G; Psaty, Bruce M BM; Bastin, Mark E ME; Montgomery, Grant W GW; Foroud, Tatiana M TM; Reppermund, Simone S; Hottenga, Jouke-Jan JJ; Simmons, Andrew A; Meyer-Lindenberg, Andreas A; Cahn, Wiepke W; Whelan, Christopher D CD; van Donkelaar, Marjolein M J MMJ; Yang, Qiong Q; Hosten, Norbert N; Green, Robert C RC; Thalamuthu, Anbupalam A; Mohnke, Sebastian S; Hulshoff Pol, Hilleke E HE; Lin, Honghuang H; Jack, Clifford R CR; Schofield, Peter R PR; Mühleisen, Thomas W TW; Maillard, Pauline P; Potkin, Steven G SG; Wen, Wei W; Fletcher, Evan E; Toga, Arthur W AW; Gruber, Oliver O; Huentelman, Matthew M; Davey Smith, George G; Launer, Lenore J LJ; Nyberg, Lars L; Jönsson, Erik G EG; Crespo-Facorro, Benedicto B; Koen, Nastassja N; Greve, Douglas N DN; Uitterlinden, André G AG; Weinberger, Daniel R DR; Steen, Vidar M VM; Fedko, Iryna O IO; Groenewold, Nynke A NA; Niessen, Wiro J WJ; Toro, Roberto R; Tzourio, Christophe C; Longstreth, William T WT; Ikram, M Kamran MK; Smoller, Jordan W JW; van Tol, Marie-Jose MJ; Sussmann, Jessika E JE; Paus, Tomas T; Lemaître, Hervé H; Schroeter, Matthias L ML; Mazoyer, Bernard B; Andreassen, Ole A OA; Holsboer, Florian F; Depondt, Chantal C; Veltman, Dick J DJ; Turner, Jessica A JA; Pausova, Zdenka Z; Schumann, Gunter G; van Rooij, Daan D; Djurovic, Srdjan S; Deary, Ian J IJ; McMahon, Katie L KL; Müller-Myhsok, Bertram B; Brouwer, Rachel M RM; Soininen, Hilkka H; Pandolfo, Massimo M; Wassink, Thomas H TH; Cheung, Joshua W JW; Wolfers, Thomas T; Martinot, Jean-Luc JL; Zwiers, Marcel P MP; Nauck, Matthias M; Melle, Ingrid I; Martin, Nicholas G NG; Kanai, Ryota R; Westman, Eric E; Kahn, René S RS; Sisodiya, Sanjay M SM; White, Tonya T; Saremi, Arvin A; van Bokhoven, Hans H; Brunner, Han G HG; Völzke, Henry H; Wright, Margaret J MJ; van 't Ent, Dennis D; Nöthen, Markus M MM; Ophoff, Roel A RA; Buitelaar, Jan K JK; Fernández, Guillén G; Sachdev, Perminder S PS; Rietschel, Marcella M; van Haren, Neeltje E M NEM; Fisher, Simon E SE; Beiser, Alexa S AS; Francks, Clyde C; Saykin, Andrew J AJ; Mather, Karen A KA; Romanczuk-Seiferth, Nina N; Hartman, Catharina A CA; DeStefano, Anita L AL; Heslenfeld, Dirk J DJ; Weiner, Michael W MW; Walter, Henrik H; Hoekstra, Pieter J PJ; Nyquist, Paul A PA; Franke, Barbara B; Bennett, David A DA; Grabe, Hans J HJ; Johnson, Andrew D AD; Chen, Christopher C; van Duijn, Cornelia M CM; Lopez, Oscar L OL; Fornage, Myriam M; Wardlaw, Joanna M JM; Schmidt, Reinhold R; DeCarli, Charles C; De Jager, Philip L PL; Villringer, Arno A; Debette, Stéphanie S; Gudnason, Vilmundur V; Medland, Sarah E SE; Shulman, Joshua M JM; Thompson, Paul M PM; Seshadri, Sudha S; Ikram, M Arfan MA
Publication Date: 2019-11

Variant appearance in text: rs11684404
PubMed Link: 31636452
Variant Present in the following documents:
  • Main text
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Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank.

Bmj (Clinical Research Ed.)
Tyrrell, Jessica J; Jones, Samuel E SE; Beaumont, Robin R; Astley, Christina M CM; Lovell, Rebecca R; Yaghootkar, Hanieh H; Tuke, Marcus M; Ruth, Katherine S KS; Freathy, Rachel M RM; Hirschhorn, Joel N JN; Wood, Andrew R AR; Murray, Anna A; Weedon, Michael N MN; Frayling, Timothy M TM
Publication Date: 2016-03-08

Variant appearance in text: rs11684404
PubMed Link: 26956984
Variant Present in the following documents:
  • tyrj029564.ww1_default.pdf
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A novel common variant in DCST2 is associated with length in early life and height in adulthood.

Human Molecular Genetics
van der Valk, Ralf J P RJ; Kreiner-Møller, Eskil E; Kooijman, Marjolein N MN; Guxens, Mònica M; Stergiakouli, Evangelia E; Sääf, Annika A; Bradfield, Jonathan P JP; Geller, Frank F; Hayes, M Geoffrey MG; Cousminer, Diana L DL; Körner, Antje A; Thiering, Elisabeth E; Curtin, John A JA; Myhre, Ronny R; Huikari, Ville V; Joro, Raimo R; Kerkhof, Marjan M; Warrington, Nicole M NM; Pitkänen, Niina N; Ntalla, Ioanna I; Horikoshi, Momoko M; Veijola, Riitta R; Freathy, Rachel M RM; Teo, Yik-Ying YY; Barton, Sheila J SJ; Evans, David M DM; Kemp, John P JP; St Pourcain, Beate B; Ring, Susan M SM; Davey Smith, George G; Bergström, Anna A; Kull, Inger I; Hakonarson, Hakon H; Mentch, Frank D FD; Bisgaard, Hans H; Chawes, Bo B; Stokholm, Jakob J; Waage, Johannes J; Eriksen, Patrick P; Sevelsted, Astrid A; Melbye, Mads M; , ; van Duijn, Cornelia M CM; Medina-Gomez, Carolina C; Hofman, Albert A; de Jongste, Johan C JC; Taal, H Rob HR; Uitterlinden, André G AG; , ; Armstrong, Loren L LL; Eriksson, Johan J; Palotie, Aarno A; Bustamante, Mariona M; Estivill, Xavier X; Gonzalez, Juan R JR; Llop, Sabrina S; Kiess, Wieland W; Mahajan, Anubha A; Flexeder, Claudia C; Tiesler, Carla M T CM; Murray, Clare S CS; Simpson, Angela A; Magnus, Per P; Sengpiel, Verena V; Hartikainen, Anna-Liisa AL; Keinanen-Kiukaanniemi, Sirkka S; Lewin, Alexandra A; Da Silva Couto Alves, Alexessander A; Blakemore, Alexandra I AI; Buxton, Jessica L JL; Kaakinen, Marika M; Rodriguez, Alina A; Sebert, Sylvain S; Vaarasmaki, Marja M; Lakka, Timo T; Lindi, Virpi V; Gehring, Ulrike U; Postma, Dirkje S DS; Ang, Wei W; Newnham, John P JP; Lyytikäinen, Leo-Pekka LP; Pahkala, Katja K; Raitakari, Olli T OT; Panoutsopoulou, Kalliope K; Zeggini, Eleftheria E; Boomsma, Dorret I DI; Groen-Blokhuis, Maria M; Ilonen, Jorma J; Franke, Lude L; Hirschhorn, Joel N JN; Pers, Tune H TH; Liang, Liming L; Huang, Jinyan J; Hocher, Berthold B; Knip, Mikael M; Saw, Seang-Mei SM; Holloway, John W JW; Melén, Erik E; Grant, Struan F A SF; Feenstra, Bjarke B; Lowe, William L WL; Widén, Elisabeth E; Sergeyev, Elena E; Grallert, Harald H; Custovic, Adnan A; Jacobsson, Bo B; Jarvelin, Marjo-Riitta MR; Atalay, Mustafa M; Koppelman, Gerard H GH; Pennell, Craig E CE; Niinikoski, Harri H; Dedoussis, George V GV; Mccarthy, Mark I MI; Frayling, Timothy M TM; Sunyer, Jordi J; Timpson, Nicholas J NJ; Rivadeneira, Fernando F; Bønnelykke, Klaus K; Jaddoe, Vincent W V VW; ,
Publication Date: 2015-02-15

Variant appearance in text: rs11684404
PubMed Link: 25281659
Variant Present in the following documents:
  • supp_ddu510_ddu510supp.pdf
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The unfolded protein response is activated in disease-affected brain regions in progressive supranuclear palsy and Alzheimer's disease.

Acta Neuropathologica Communications
Stutzbach, Lauren D LD; Xie, Sharon X SX; Naj, Adam C AC; Albin, Roger R; Gilman, Sid S; , ; Lee, Virginia M Y VM; Trojanowski, John Q JQ; Devlin, Bernie B; Schellenberg, Gerard D GD
Publication Date: 2013-07-06

Variant appearance in text: rs11684404
PubMed Link: 24252572
Variant Present in the following documents:
  • Main text
  • 2051-5960-1-31.pdf
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A functional haplotype in EIF2AK3, an ER stress sensor, is associated with lower bone mineral density.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Liu, Jie J; Hoppman, Nicole N; O'Connell, Jeffrey R JR; Wang, Hong H; Streeten, Elizabeth A EA; McLenithan, John C JC; Mitchell, Braxton D BD; Shuldiner, Alan R AR
Publication Date: 2012-02

Variant appearance in text: rs11684404
PubMed Link: 22028037
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

Nature Genetics
Soler Artigas, María M; Loth, Daan W DW; Wain, Louise V LV; Gharib, Sina A SA; Obeidat, Ma'en M; Tang, Wenbo W; Zhai, Guangju G; Zhao, Jing Hua JH; Smith, Albert Vernon AV; Huffman, Jennifer E JE; Albrecht, Eva E; Jackson, Catherine M CM; Evans, David M DM; Cadby, Gemma G; Fornage, Myriam M; Manichaikul, Ani A; Lopez, Lorna M LM; Johnson, Toby T; Aldrich, Melinda C MC; Aspelund, Thor T; Barroso, Inês I; Campbell, Harry H; Cassano, Patricia A PA; Couper, David J DJ; Eiriksdottir, Gudny G; Franceschini, Nora N; Garcia, Melissa M; Gieger, Christian C; Gislason, Gauti Kjartan GK; Grkovic, Ivica I; Hammond, Christopher J CJ; Hancock, Dana B DB; Harris, Tamara B TB; Ramasamy, Adaikalavan A; Heckbert, Susan R SR; Heliövaara, Markku M; Homuth, Georg G; Hysi, Pirro G PG; James, Alan L AL; Jankovic, Stipan S; Joubert, Bonnie R BR; Karrasch, Stefan S; Klopp, Norman N; Koch, Beate B; Kritchevsky, Stephen B SB; Launer, Lenore J LJ; Liu, Yongmei Y; Loehr, Laura R LR; Lohman, Kurt K; Loos, Ruth J F RJ; Lumley, Thomas T; Al Balushi, Khalid A KA; Ang, Wei Q WQ; Barr, R Graham RG; Beilby, John J; Blakey, John D JD; Boban, Mladen M; Boraska, Vesna V; Brisman, Jonas J; Britton, John R JR; Brusselle, Guy G GG; Cooper, Cyrus C; Curjuric, Ivan I; Dahgam, Santosh S; Deary, Ian J IJ; Ebrahim, Shah S; Eijgelsheim, Mark M; Francks, Clyde C; Gaysina, Darya D; Granell, Raquel R; Gu, Xiangjun X; Hankinson, John L JL; Hardy, Rebecca R; Harris, Sarah E SE; Henderson, John J; Henry, Amanda A; Hingorani, Aroon D AD; Hofman, Albert A; Holt, Patrick G PG; Hui, Jennie J; Hunter, Michael L ML; Imboden, Medea M; Jameson, Karen A KA; Kerr, Shona M SM; Kolcic, Ivana I; Kronenberg, Florian F; Liu, Jason Z JZ; Marchini, Jonathan J; McKeever, Tricia T; Morris, Andrew D AD; Olin, Anna-Carin AC; Porteous, David J DJ; Postma, Dirkje S DS; Rich, Stephen S SS; Ring, Susan M SM; Rivadeneira, Fernando F; Rochat, Thierry T; Sayer, Avan Aihie AA; Sayers, Ian I; Sly, Peter D PD; Smith, George Davey GD; Sood, Akshay A; Starr, John M JM; Uitterlinden, André G AG; Vonk, Judith M JM; Wannamethee, S Goya SG; Whincup, Peter H PH; Wijmenga, Cisca C; Williams, O Dale OD; Wong, Andrew A; Mangino, Massimo M; Marciante, Kristin D KD; McArdle, Wendy L WL; Meibohm, Bernd B; Morrison, Alanna C AC; North, Kari E KE; Omenaas, Ernst E; Palmer, Lyle J LJ; Pietiläinen, Kirsi H KH; Pin, Isabelle I; Pola Sbreve Ek, Ozren O; Pouta, Anneli A; Psaty, Bruce M BM; Hartikainen, Anna-Liisa AL; Rantanen, Taina T; Ripatti, Samuli S; Rotter, Jerome I JI; Rudan, Igor I; Rudnicka, Alicja R AR; Schulz, Holger H; Shin, So-Youn SY; Spector, Tim D TD; Surakka, Ida I; Vitart, Veronique V; Völzke, Henry H; Wareham, Nicholas J NJ; Warrington, Nicole M NM; Wichmann, H-Erich HE; Wild, Sarah H SH; Wilk, Jemma B JB; Wjst, Matthias M; Wright, Alan F AF; Zgaga, Lina L; Zemunik, Tatijana T; Pennell, Craig E CE; Nyberg, Fredrik F; Kuh, Diana D; Holloway, John W JW; Boezen, H Marike HM; Lawlor, Debbie A DA; Morris, Richard W RW; Probst-Hensch, Nicole N; , ; , ; Kaprio, Jaakko J; Wilson, James F JF; Hayward, Caroline C; Kähönen, Mika M; Heinrich, Joachim J; Musk, Arthur W AW; Jarvis, Deborah L DL; Gläser, Sven S; Järvelin, Marjo-Riitta MR; Ch Stricker, Bruno H BH; Elliott, Paul P; O'Connor, George T GT; Strachan, David P DP; London, Stephanie J SJ; Hall, Ian P IP; Gudnason, Vilmundur V; Tobin, Martin D MD
Publication Date: 2011-09-25

Variant appearance in text: rs11684404
PubMed Link: 21946350
Variant Present in the following documents:
  • NIHMS335195-supplement-4.pdf
View BVdb publication page