MAP1A c.7046C>T ;(p.P2349L)

Variant ID: 15-43820717-C-T

NM_002373.5(MAP1A):c.7046C>T;(p.P2349L)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Update of a Genetic Risk Score Predictive of the Plasma Triglyceride Response to an Omega-3 Fatty Acid Supplementation in the FAS Study.

Nutrients
Gauthier, Ellie E; de Toro-Martín, Juan J; Vallée-Marcotte, Bastien B; Lemieux, Simone S; Rudkowska, Iwona I; Couture, Patrick P; Vohl, Marie-Claude MC
Publication Date: 2023-02-25

Variant appearance in text: rs55707100
PubMed Link: 36904157
Variant Present in the following documents:
  • Main text
  • nutrients-15-01156.pdf
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Genetically predicted testosterone and cancers risk in men: a two-sample Mendelian randomization study.

Journal Of Translational Medicine
Chang, Junke J; Wu, Yongming Y; Zhou, Sicheng S; Tian, Ye Y; Wang, Yan Y; Tian, Jie J; Song, Wenpeng W; Dong, Yinxian Y; Li, Jue J; Zhao, Ziyi Z; Che, Guowei G
Publication Date: 2022-12-08

Variant appearance in text: rs55707100
PubMed Link: 36482455
Variant Present in the following documents:
  • Main text
  • 12967_2022_Article_3783.pdf
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Circulating free testosterone and risk of aggressive prostate cancer: Prospective and Mendelian randomisation analyses in international consortia.

International Journal Of Cancer
Watts, Eleanor L EL; Perez-Cornago, Aurora A; Fensom, Georgina K GK; Smith-Byrne, Karl K; Noor, Urwah U; Andrews, Colm D CD; Gunter, Marc J MJ; Holmes, Michael V MV; Martin, Richard M RM; Tsilidis, Konstantinos K KK; Albanes, Demetrius D; Barricarte, Aurelio A; Bueno-de-Mesquita, Bas B; Chen, Chu C; Cohn, Barbara A BA; Dimou, Niki L NL; Ferrucci, Luigi L; Flicker, Leon L; Freedman, Neal D ND; Giles, Graham G GG; Giovannucci, Edward L EL; Goodman, Gary E GE; Haiman, Christopher A CA; Hankey, Graeme J GJ; Huang, Jiaqi J; Huang, Wen-Yi WY; Hurwitz, Lauren M LM; Kaaks, Rudolf R; Knekt, Paul P; Kubo, Tatsuhiko T; Langseth, Hilde H; Laughlin, Gail G; Le Marchand, Loic L; Luostarinen, Tapio T; MacInnis, Robert J RJ; Mäenpää, Hanna O HO; Männistö, Satu S; Metter, E Jeffrey EJ; Mikami, Kazuya K; Mucci, Lorelei A LA; Olsen, Anja W AW; Ozasa, Kotaro K; Palli, Domenico D; Penney, Kathryn L KL; Platz, Elizabeth A EA; Rissanen, Harri H; Sawada, Norie N; Schenk, Jeannette M JM; Stattin, Pär P; Tamakoshi, Akiko A; Thysell, Elin E; Tsai, Chiaojung Jillian CJ; Tsugane, Shoichiro S; Vatten, Lars L; Weiderpass, Elisabete E; Weinstein, Stephanie J SJ; Wilkens, Lynne R LR; Yeap, Bu B BB; , ; , ; , ; , ; , ; Allen, Naomi E NE; Key, Timothy J TJ; Travis, Ruth C RC
Publication Date: 2022-10-01

Variant appearance in text: rs55707100
PubMed Link: 35579976
Variant Present in the following documents:
  • IJC-151-1033-s001.pdf
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Genetic analysis of over half a million people characterises C-reactive protein loci.

Nature Communications
Said, Saredo S; Pazoki, Raha R; Karhunen, Ville V; Võsa, Urmo U; Ligthart, Symen S; Bodinier, Barbara B; Koskeridis, Fotios F; Welsh, Paul P; Alizadeh, Behrooz Z BZ; Chasman, Daniel I DI; Sattar, Naveed N; Chadeau-Hyam, Marc M; Evangelou, Evangelos E; Jarvelin, Marjo-Riitta MR; Elliott, Paul P; Tzoulaki, Ioanna I; Dehghan, Abbas A
Publication Date: 2022-04-22

Variant appearance in text: rs55707100
PubMed Link: 35459240
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants associated with platelet count are predictive of human disease and physiological markers.

Communications Biology
Mikaelsdottir, Evgenia E; Thorleifsson, Gudmar G; Stefansdottir, Lilja L; Halldorsson, Gisli G; Sigurdsson, Jon K JK; Lund, Sigrun H SH; Tragante, Vinicius V; Melsted, Pall P; Rognvaldsson, Solvi S; Norland, Kristjan K; Helgadottir, Anna A; Magnusson, Magnus K MK; Ragnarsson, Gunnar B GB; Kristinsson, Sigurdur Y SY; Reykdal, Sigrun S; Vidarsson, Brynjar B; Gudmundsdottir, Ingibjorg J IJ; Olafsson, Isleifur I; Onundarson, Pall T PT; Sigurdardottir, Olof O; Sigurdsson, Emil L EL; Grondal, Gerdur G; Geirsson, Arni J AJ; Geirsson, Gudmundur G; Gudmundsson, Julius J; Holm, Hilma H; Saevarsdottir, Saedis S; Jonsdottir, Ingileif I; Thorgeirsson, Gudmundur G; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Rafnar, Thorunn T; Stefansson, Kari K
Publication Date: 2021-09-27

Variant appearance in text: MAP1A: Pro2349Leu; rs55707100
PubMed Link: 34580418
Variant Present in the following documents:
  • 42003_2021_2642_MOESM4_ESM.xlsx, sheet 9
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Genome-wide association study of fish oil supplementation on lipid traits in 81,246 individuals reveals new gene-diet interaction loci.

Plos Genetics
Francis, Michael M; Li, Changwei C; Sun, Yitang Y; Zhou, Jingqi J; Li, Xiang X; Brenna, J Thomas JT; Ye, Kaixiong K
Publication Date: 2021-03

Variant appearance in text: rs55707100
PubMed Link: 33760818
Variant Present in the following documents:
  • Main text
  • pgen.1009431.pdf
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Circulating Levels of Insulin-like Growth Factor 1 and Insulin-like Growth Factor Binding Protein 3 Associate With Risk of Colorectal Cancer Based on Serologic and Mendelian Randomization Analyses.

Gastroenterology
Murphy, Neil N; Carreras-Torres, Robert R; Song, Mingyang M; Chan, Andrew T AT; Martin, Richard M RM; Papadimitriou, Nikos N; Dimou, Niki N; Tsilidis, Konstantinos K KK; Banbury, Barbara B; Bradbury, Kathryn E KE; Besevic, Jelena J; Rinaldi, Sabina S; Riboli, Elio E; Cross, Amanda J AJ; Travis, Ruth C RC; Agnoli, Claudia C; Albanes, Demetrius D; Berndt, Sonja I SI; Bézieau, Stéphane S; Bishop, D Timothy DT; Brenner, Hermann H; Buchanan, Daniel D DD; Onland-Moret, N Charlotte NC; Burnett-Hartman, Andrea A; Campbell, Peter T PT; Casey, Graham G; Castellví-Bel, Sergi S; Chang-Claude, Jenny J; Chirlaque, María-Dolores MD; de la Chapelle, Albert A; English, Dallas D; Figueiredo, Jane C JC; Gallinger, Steven J SJ; Giles, Graham G GG; Gruber, Stephen B SB; Gsur, Andrea A; Hampe, Jochen J; Hampel, Heather H; Harrison, Tabitha A TA; Hoffmeister, Michael M; Hsu, Li L; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Keku, Temitope O TO; Kühn, Tilman T; Kweon, Sun-Seog SS; Le Marchand, Loic L; Li, Christopher I CI; Li, Li L; Lindblom, Annika A; Martín, Vicente V; Milne, Roger L RL; Moreno, Victor V; Newcomb, Polly A PA; Offit, Kenneth K; Ogino, Shuji S; Ose, Jennifer J; Perduca, Vittorio V; Phipps, Amanda I AI; Platz, Elizabeth A EA; Potter, John D JD; Qu, Conghui C; Rennert, Gad G; Sakoda, Lori C LC; Schafmayer, Clemens C; Schoen, Robert E RE; Slattery, Martha L ML; Tangen, Catherine M CM; Ulrich, Cornelia M CM; van Duijnhoven, Franzel J B FJB; Van Guelpen, Bethany B; Visvanathan, Kala K; Vodicka, Pavel P; Vodickova, Ludmila L; Vymetalkova, Veronika V; Wang, Hansong H; White, Emily E; Wolk, Alicja A; Woods, Michael O MO; Wu, Anna H AH; Zheng, Wei W; Peters, Ulrike U; Gunter, Marc J MJ
Publication Date: 2020-04

Variant appearance in text: rs55707100
PubMed Link: 31884074
Variant Present in the following documents:
  • Main text
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Association of Genetically Predicted Lipid Levels With the Extent of Coronary Atherosclerosis in Icelandic Adults.

Jama Cardiology
Björnsson, Eythór E; Thorleifsson, Guðmar G; Helgadóttir, Anna A; Guðnason, Thórarinn T; Guðbjartsson, Tómas T; Andersen, Karl K; Grétarsdóttir, Sólveig S; Ólafsson, Ísleifur Í; Tragante, Vinicius V; Ólafsson, Ólafur Hreiðar ÓH; Jónsdóttir, Birna B; Eyjólfsson, Guðmundur I GI; Sigurðardóttir, Ólöf Ó; Thorgeirsson, Guðmundur G; Guðbjartsson, Daníel F DF; Thorsteinsdóttir, Unnur U; Hólm, Hilma H; Stefánsson, Kári K
Publication Date: 2020-01-01

Variant appearance in text: rs55707100
PubMed Link: 31746962
Variant Present in the following documents:
  • jamacardiol-5-13-s001.pdf
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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports
Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM
Publication Date: 2019-02-19

Variant appearance in text: MAP1A: P2349L
PubMed Link: 30784590
Variant Present in the following documents:
  • mmc6.xlsx, sheet 1
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Genetically Determined Platelet Count and Risk of Cardiovascular Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Gill, Dipender D; Monori, Grace G; Georgakis, Marios K MK; Tzoulaki, Ioanna I; Laffan, Mike M
Publication Date: 2018-12

Variant appearance in text: rs55707100
PubMed Link: 30571169
Variant Present in the following documents:
  • atv-38-2862-s001.pdf
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.

Nature Genetics
Turcot, Valérie V; Lu, Yingchang Y; Highland, Heather M HM; Schurmann, Claudia C; Justice, Anne E AE; Fine, Rebecca S RS; Bradfield, Jonathan P JP; Esko, Tõnu T; Giri, Ayush A; Graff, Mariaelisa M; Guo, Xiuqing X; Hendricks, Audrey E AE; Karaderi, Tugce T; Lempradl, Adelheid A; Locke, Adam E AE; Mahajan, Anubha A; Marouli, Eirini E; Sivapalaratnam, Suthesh S; Young, Kristin L KL; Alfred, Tamuno T; Feitosa, Mary F MF; Masca, Nicholas G D NGD; Manning, Alisa K AK; Medina-Gomez, Carolina C; Mudgal, Poorva P; Ng, Maggie C Y MCY; Reiner, Alex P AP; Vedantam, Sailaja S; Willems, Sara M SM; Winkler, Thomas W TW; Abecasis, Gonçalo G; Aben, Katja K KK; Alam, Dewan S DS; Alharthi, Sameer E SE; Allison, Matthew M; Amouyel, Philippe P; Asselbergs, Folkert W FW; Auer, Paul L PL; Balkau, Beverley B; Bang, Lia E LE; Barroso, Inês I; Bastarache, Lisa L; Benn, Marianne M; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boehnke, Michael M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bork-Jensen, Jette J; Bots, Michiel L ML; Bottinger, Erwin P EP; Bowden, Donald W DW; Brandslund, Ivan I; Breen, Gerome G; Brilliant, Murray H MH; Broer, Linda L; Brumat, Marco M; Burt, Amber A AA; Butterworth, Adam S AS; Campbell, Peter T PT; Cappellani, Stefania S; Carey, David J DJ; Catamo, Eulalia E; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der I YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Cocca, Massimiliano M; Collins, Francis S FS; Cook, James P JP; Corley, Janie J; Corominas Galbany, Jordi J; Cox, Amanda J AJ; Crosslin, David S DS; Cuellar-Partida, Gabriel G; D'Eustacchio, Angela A; Danesh, John J; Davies, Gail G; Bakker, Paul I W PIW; Groot, Mark C H MCH; Mutsert, Renée R; Deary, Ian J IJ; Dedoussis, George G; Demerath, Ellen W EW; Heijer, Martin M; Hollander, Anneke I AI; Ruijter, Hester M HM; Dennis, Joe G JG; Denny, Josh C JC; Di Angelantonio, Emanuele E; Drenos, Fotios F; Du, Mengmeng M; Dubé, Marie-Pierre MP; Dunning, Alison M AM; Easton, Douglas F DF; Edwards, Todd L TL; Ellinghaus, David D; Ellinor, Patrick T PT; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Farooqi, I Sadaf IS; Faul, Jessica D JD; Fauser, Sascha S; Feng, Shuang S; Ferrannini, Ele E; Ferrieres, Jean J; Florez, Jose C JC; Ford, Ian I; Fornage, Myriam M; Franco, Oscar H OH; Franke, Andre A; Franks, Paul W PW; Friedrich, Nele N; Frikke-Schmidt, Ruth R; Galesloot, Tessel E TE; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Gibson, Jane J; Giedraitis, Vilmantas V; Gjesing, Anette P AP; Gordon-Larsen, Penny P; Gorski, Mathias M; Grabe, Hans-Jörgen HJ; Grant, Struan F A SFA; Grarup, Niels N; Griffiths, Helen L HL; Grove, Megan L ML; Gudnason, Vilmundur V; Gustafsson, Stefan S; Haessler, Jeff J; Hakonarson, Hakon H; Hammerschlag, Anke R AR; Hansen, Torben T; Harris, Kathleen Mullan KM; Harris, Tamara B TB; Hattersley, Andrew T AT; Have, Christian T CT; Hayward, Caroline C; He, Liang L; Heard-Costa, Nancy L NL; Heath, Andrew C AC; Heid, Iris M IM; Helgeland, Øyvind Ø; Hernesniemi, Jussi J; Hewitt, Alex W AW; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JMM; Hu, Yao Y; Huang, Paul L PL; Huffman, Jennifer E JE; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jansson, Jan-Håkan JH; Jarvik, Gail P GP; Jensen, Gorm B GB; Jia, Yucheng Y; Johansson, Stefan S; Jørgensen, Marit E ME; Jørgensen, Torben T; Jukema, J Wouter JW; Kahali, Bratati B; Kahn, René S RS; Kähönen, Mika M; Kamstrup, Pia R PR; Kanoni, Stavroula S; Kaprio, Jaakko J; Karaleftheri, Maria M; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kathiresan, Sekar S; Kee, Frank F; Kiemeney, Lambertus A LA; Kim, Eric E; Kitajima, Hidetoshi H; Komulainen, Pirjo P; Kooner, Jaspal S JS; Kooperberg, Charles C; Korhonen, Tellervo T; Kovacs, Peter P; Kuivaniemi, Helena H; Kutalik, Zoltán Z; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lamparter, David D; Lange, Ethan M EM; Lange, Leslie A LA; Langenberg, Claudia C; Larson, Eric B EB; Lee, Nanette R NR; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Honghuang H; Lin, Keng-Hung KH; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Dajiang J DJ; Liu, Yongmei Y; Lo, Ken S KS; Lophatananon, Artitaya A; Lotery, Andrew J AJ; Loukola, Anu A; Luan, Jian'an J; Lubitz, Steven A SA; Lyytikäinen, Leo-Pekka LP; Männistö, Satu S; Marenne, Gaëlle G; Mazul, Angela L AL; McCarthy, Mark I MI; McKean-Cowdin, Roberta R; Medland, Sarah E SE; Meidtner, Karina K; Milani, Lili L; Mistry, Vanisha V; Mitchell, Paul P; Mohlke, Karen L KL; Moilanen, Leena L; Moitry, Marie M; Montgomery, Grant W GW; Mook-Kanamori, Dennis O DO; Moore, Carmel C; Mori, Trevor A TA; Morris, Andrew D AD; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Nalls, Mike A MA; Narisu, Narisu N; Nelson, Christopher P CP; Neville, Matt M; Nielsen, Sune F SF; Nikus, Kjell K; Njølstad, Pål R PR; Nordestgaard, Børge G BG; Nyholt, Dale R DR; O'Connel, Jeffrey R JR; O'Donoghue, Michelle L ML; Olde Loohuis, Loes M LM; Ophoff, Roel A RA; Owen, Katharine R KR; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmer, Colin N A CNA; Palmer, Nicholette D ND; Pasterkamp, Gerard G; Patel, Aniruddh P AP; Pattie, Alison A; Pedersen, Oluf O; Peissig, Peggy L PL; Peloso, Gina M GM; Pennell, Craig E CE; Perola, Markus M; Perry, James A JA; Perry, John R B JRB; Pers, Tune H TH; Person, Thomas N TN; Peters, Annette A; Petersen, Eva R B ERB; Peyser, Patricia A PA; Pirie, Ailith A; Polasek, Ozren O; Polderman, Tinca J TJ; Puolijoki, Hannu H; Raitakari, Olli T OT; Rasheed, Asif A; Rauramaa, Rainer R; Reilly, Dermot F DF; Renström, Frida F; Rheinberger, Myriam M; Ridker, Paul M PM; Rioux, John D JD; Rivas, Manuel A MA; Roberts, David J DJ; Robertson, Neil R NR; Robino, Antonietta A; Rolandsson, Olov O; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Sapkota, Yadav Y; Sattar, Naveed N; Schoen, Robert E RE; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo P MP; Shah, Svati H SH; Sheu, Wayne H-H WH; Sim, Xueling X; Slater, Andrew J AJ; Small, Kerrin S KS; Smith, Albert V AV; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Starr, John M JM; Stefansson, Kari K; Steinthorsdottir, Valgerdur V; Stirrups, Kathleen E KE; Strauch, Konstantin K; Stringham, Heather M HM; Stumvoll, Michael M; Sun, Liang L; Surendran, Praveen P; Swift, Amy J AJ; Tada, Hayato H; Tansey, Katherine E KE; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thompson, Deborah J DJ; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Thuesen, Betina H BH; Tönjes, Anke A; Tromp, Gerard G; Trompet, Stella S; Tsafantakis, Emmanouil E; Tuomilehto, Jaakko J; Tybjaerg-Hansen, Anne A; Tyrer, Jonathan P JP; Uher, Rudolf R; Uitterlinden, André G AG; Uusitupa, Matti M; Laan, Sander W SW; Duijn, Cornelia M CM; Leeuwen, Nienke N; van Setten, Jessica J; Vanhala, Mauno M; Varbo, Anette A; Varga, Tibor V TV; Varma, Rohit R; Velez Edwards, Digna R DR; Vermeulen, Sita H SH; Veronesi, Giovanni G; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Völker, Uwe U; Vuckovic, Dragana D; Wagenknecht, Lynne E LE; Walker, Mark M; Wallentin, Lars L; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wang, Yiqin Y; Ware, Erin B EB; Wareham, Nicholas J NJ; Warren, Helen R HR; Waterworth, Dawn M DM; Wessel, Jennifer J; White, Harvey D HD; Willer, Cristen J CJ; Wilson, James G JG; Witte, Daniel R DR; Wood, Andrew R AR; Wu, Ying Y; Yaghootkar, Hanieh H; Yao, Jie J; Yao, Pang P; Yerges-Armstrong, Laura M LM; Young, Robin R; Zeggini, Eleftheria E; Zhan, Xiaowei X; Zhang, Weihua W; Zhao, Jing Hua JH; Zhao, Wei W; Zhao, Wei W; Zhou, Wei W; Zondervan, Krina T KT; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Rotter, Jerome I JI; Pospisilik, John A JA; Rivadeneira, Fernando F; Borecki, Ingrid B IB; Deloukas, Panos P; Frayling, Timothy M TM; Lettre, Guillaume G; North, Kari E KE; Lindgren, Cecilia M CM; Hirschhorn, Joel N JN; Loos, Ruth J F RJF
Publication Date: 2018-01

Variant appearance in text: rs55707100
PubMed Link: 29273807
Variant Present in the following documents:
  • Main text
  • nihms920811.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs55707100
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Analysis with the exome array identifies multiple new independent variants in lipid loci.

Human Molecular Genetics
Kanoni, Stavroula S; Masca, Nicholas G D NG; Stirrups, Kathleen E KE; Varga, Tibor V TV; Warren, Helen R HR; Scott, Robert A RA; Southam, Lorraine L; Zhang, Weihua W; Yaghootkar, Hanieh H; Müller-Nurasyid, Martina M; Couto Alves, Alexessander A; Strawbridge, Rona J RJ; Lataniotis, Lazaros L; An Hashim, Nikman N; Besse, Céline C; Boland, Anne A; Braund, Peter S PS; Connell, John M JM; Dominiczak, Anna A; Farmaki, Aliki-Eleni AE; Franks, Stephen S; Grallert, Harald H; Jansson, Jan-Håkan JH; Karaleftheri, Maria M; Keinänen-Kiukaanniemi, Sirkka S; Matchan, Angela A; Pasko, Dorota D; Peters, Annette A; Poulter, Neil N; Rayner, Nigel W NW; Renström, Frida F; Rolandsson, Olov O; Sabater-Lleal, Maria M; Sennblad, Bengt B; Sever, Peter P; Shields, Denis D; Silveira, Angela A; Stanton, Alice V AV; Strauch, Konstantin K; Tomaszewski, Maciej M; Tsafantakis, Emmanouil E; Waldenberger, Melanie M; Blakemore, Alexandra I F AI; Dedoussis, George G; Escher, Stefan A SA; Kooner, Jaspal S JS; McCarthy, Mark I MI; Palmer, Colin N A CN; , ; Hamsten, Anders A; Caulfield, Mark J MJ; Frayling, Timothy M TM; Tobin, Martin D MD; Jarvelin, Marjo-Riitta MR; Zeggini, Eleftheria E; Gieger, Christian C; Chambers, John C JC; Wareham, Nick J NJ; Munroe, Patricia B PB; Franks, Paul W PW; Samani, Nilesh J NJ; Deloukas, Panos P
Publication Date: 2016-09-15

Variant appearance in text: rs55707100
PubMed Link: 27466198
Variant Present in the following documents:
  • Main text
View BVdb publication page



Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals.

American Journal Of Human Genetics
Eicher, John D JD; Chami, Nathalie N; Kacprowski, Tim T; Nomura, Akihiro A; Chen, Ming-Huei MH; Yanek, Lisa R LR; Tajuddin, Salman M SM; Schick, Ursula M UM; Slater, Andrew J AJ; Pankratz, Nathan N; Polfus, Linda L; Schurmann, Claudia C; Giri, Ayush A; Brody, Jennifer A JA; Lange, Leslie A LA; Manichaikul, Ani A; Hill, W David WD; Pazoki, Raha R; Elliot, Paul P; Evangelou, Evangelos E; Tzoulaki, Ioanna I; Gao, He H; Vergnaud, Anne-Claire AC; Mathias, Rasika A RA; Becker, Diane M DM; Becker, Lewis C LC; Burt, Amber A; Crosslin, David R DR; Lyytikäinen, Leo-Pekka LP; Nikus, Kjell K; Hernesniemi, Jussi J; Kähönen, Mika M; Raitoharju, Emma E; Mononen, Nina N; Raitakari, Olli T OT; Lehtimäki, Terho T; Cushman, Mary M; Zakai, Neil A NA; Nickerson, Deborah A DA; Raffield, Laura M LM; Quarells, Rakale R; Willer, Cristen J CJ; Peloso, Gina M GM; Abecasis, Goncalo R GR; Liu, Dajiang J DJ; , ; Deloukas, Panos P; Samani, Nilesh J NJ; Schunkert, Heribert H; Erdmann, Jeanette J; , ; , ; Fornage, Myriam M; Richard, Melissa M; Tardif, Jean-Claude JC; Rioux, John D JD; Dube, Marie-Pierre MP; de Denus, Simon S; Lu, Yingchang Y; Bottinger, Erwin P EP; Loos, Ruth J F RJ; Smith, Albert Vernon AV; Harris, Tamara B TB; Launer, Lenore J LJ; Gudnason, Vilmundur V; Velez Edwards, Digna R DR; Torstenson, Eric S ES; Liu, Yongmei Y; Tracy, Russell P RP; Rotter, Jerome I JI; Rich, Stephen S SS; Highland, Heather M HM; Boerwinkle, Eric E; Li, Jin J; Lange, Ethan E; Wilson, James G JG; Mihailov, Evelin E; Mägi, Reedik R; Hirschhorn, Joel J; Metspalu, Andres A; Esko, Tõnu T; Vacchi-Suzzi, Caterina C; Nalls, Mike A MA; Zonderman, Alan B AB; Evans, Michele K MK; Engström, Gunnar G; Orho-Melander, Marju M; Melander, Olle O; O'Donoghue, Michelle L ML; Waterworth, Dawn M DM; Wallentin, Lars L; White, Harvey D HD; Floyd, James S JS; Bartz, Traci M TM; Rice, Kenneth M KM; Psaty, Bruce M BM; Starr, J M JM; Liewald, David C M DC; Hayward, Caroline C; Deary, Ian J IJ; Greinacher, Andreas A; Völker, Uwe U; Thiele, Thomas T; Völzke, Henry H; van Rooij, Frank J A FJ; Uitterlinden, André G AG; Franco, Oscar H OH; Dehghan, Abbas A; Edwards, Todd L TL; Ganesh, Santhi K SK; Kathiresan, Sekar S; Faraday, Nauder N; Auer, Paul L PL; Reiner, Alex P AP; Lettre, Guillaume G; Johnson, Andrew D AD
Publication Date: 2016-07-07

Variant appearance in text: rs55707100
PubMed Link: 27346686
Variant Present in the following documents:
  • Main text
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Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits.

American Journal Of Human Genetics
Chami, Nathalie N; Chen, Ming-Huei MH; Slater, Andrew J AJ; Eicher, John D JD; Evangelou, Evangelos E; Tajuddin, Salman M SM; Love-Gregory, Latisha L; Kacprowski, Tim T; Schick, Ursula M UM; Nomura, Akihiro A; Giri, Ayush A; Lessard, Samuel S; Brody, Jennifer A JA; Schurmann, Claudia C; Pankratz, Nathan N; Yanek, Lisa R LR; Manichaikul, Ani A; Pazoki, Raha R; Mihailov, Evelin E; Hill, W David WD; Raffield, Laura M LM; Burt, Amber A; Bartz, Traci M TM; Becker, Diane M DM; Becker, Lewis C LC; Boerwinkle, Eric E; Bork-Jensen, Jette J; Bottinger, Erwin P EP; O'Donoghue, Michelle L ML; Crosslin, David R DR; de Denus, Simon S; Dubé, Marie-Pierre MP; Elliott, Paul P; Engström, Gunnar G; Evans, Michele K MK; Floyd, James S JS; Fornage, Myriam M; Gao, He H; Greinacher, Andreas A; Gudnason, Vilmundur V; Hansen, Torben T; Harris, Tamara B TB; Hayward, Caroline C; Hernesniemi, Jussi J; Highland, Heather M HM; Hirschhorn, Joel N JN; Hofman, Albert A; Irvin, Marguerite R MR; Kähönen, Mika M; Lange, Ethan E; Launer, Lenore J LJ; Lehtimäki, Terho T; Li, Jin J; Liewald, David C M DC; Linneberg, Allan A; Liu, Yongmei Y; Lu, Yingchang Y; Lyytikäinen, Leo-Pekka LP; Mägi, Reedik R; Mathias, Rasika A RA; Melander, Olle O; Metspalu, Andres A; Mononen, Nina N; Nalls, Mike A MA; Nickerson, Deborah A DA; Nikus, Kjell K; O'Donnell, Chris J CJ; Orho-Melander, Marju M; Pedersen, Oluf O; Petersmann, Astrid A; Polfus, Linda L; Psaty, Bruce M BM; Raitakari, Olli T OT; Raitoharju, Emma E; Richard, Melissa M; Rice, Kenneth M KM; Rivadeneira, Fernando F; Rotter, Jerome I JI; Schmidt, Frank F; Smith, Albert Vernon AV; Starr, John M JM; Taylor, Kent D KD; Teumer, Alexander A; Thuesen, Betina H BH; Torstenson, Eric S ES; Tracy, Russell P RP; Tzoulaki, Ioanna I; Zakai, Neil A NA; Vacchi-Suzzi, Caterina C; van Duijn, Cornelia M CM; van Rooij, Frank J A FJ; Cushman, Mary M; Deary, Ian J IJ; Velez Edwards, Digna R DR; Vergnaud, Anne-Claire AC; Wallentin, Lars L; Waterworth, Dawn M DM; White, Harvey D HD; Wilson, James G JG; Zonderman, Alan B AB; Kathiresan, Sekar S; Grarup, Niels N; Esko, Tõnu T; Loos, Ruth J F RJ; Lange, Leslie A LA; Faraday, Nauder N; Abumrad, Nada A NA; Edwards, Todd L TL; Ganesh, Santhi K SK; Auer, Paul L PL; Johnson, Andrew D AD; Reiner, Alexander P AP; Lettre, Guillaume G
Publication Date: 2016-07-07

Variant appearance in text: MAP1A: 7046C>T; Pro2349Leu; rs55707100
PubMed Link: 27346685
Variant Present in the following documents:
  • Main text
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Molecular analysis of urothelial cancer cell lines for modeling tumor biology and drug response.

Oncogene
Nickerson, M L ML; Witte, N N; Im, K M KM; Turan, S S; Owens, C C; Misner, K K; Tsang, S X SX; Cai, Z Z; Wu, S S; Dean, M M; Costello, J C JC; Theodorescu, D D
Publication Date: 2017-01-05

Variant appearance in text: MAP1A: P2349L; rs55707100
PubMed Link: 27270441
Variant Present in the following documents:
  • onc2016172x3.xls, sheet 3
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Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: MAP1A: P2349L; rs55707100
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
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NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014

Variant appearance in text: MAP1A: P2349L; rs55707100
PubMed Link: 25032700
Variant Present in the following documents:
  • pone.0101670.s004.xlsx, sheet 1
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Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

American Journal Of Human Genetics
Peloso, Gina M GM; Auer, Paul L PL; Bis, Joshua C JC; Voorman, Arend A; Morrison, Alanna C AC; Stitziel, Nathan O NO; Brody, Jennifer A JA; Khetarpal, Sumeet A SA; Crosby, Jacy R JR; Fornage, Myriam M; Isaacs, Aaron A; Jakobsdottir, Johanna J; Feitosa, Mary F MF; Davies, Gail G; Huffman, Jennifer E JE; Manichaikul, Ani A; Davis, Brian B; Lohman, Kurt K; Joon, Aron Y AY; Smith, Albert V AV; Grove, Megan L ML; Zanoni, Paolo P; Redon, Valeska V; Demissie, Serkalem S; Lawson, Kim K; Peters, Ulrike U; Carlson, Christopher C; Jackson, Rebecca D RD; Ryckman, Kelli K KK; Mackey, Rachel H RH; Robinson, Jennifer G JG; Siscovick, David S DS; Schreiner, Pamela J PJ; Mychaleckyj, Josyf C JC; Pankow, James S JS; Hofman, Albert A; Uitterlinden, Andre G AG; Harris, Tamara B TB; Taylor, Kent D KD; Stafford, Jeanette M JM; Reynolds, Lindsay M LM; Marioni, Riccardo E RE; Dehghan, Abbas A; Franco, Oscar H OH; Patel, Aniruddh P AP; Lu, Yingchang Y; Hindy, George G; Gottesman, Omri O; Bottinger, Erwin P EP; Melander, Olle O; Orho-Melander, Marju M; Loos, Ruth J F RJ; Duga, Stefano S; Merlini, Piera Angelica PA; Farrall, Martin M; Goel, Anuj A; Asselta, Rosanna R; Girelli, Domenico D; Martinelli, Nicola N; Shah, Svati H SH; Kraus, William E WE; Li, Mingyao M; Rader, Daniel J DJ; Reilly, Muredach P MP; McPherson, Ruth R; Watkins, Hugh H; Ardissino, Diego D; , ; Zhang, Qunyuan Q; Wang, Judy J; Tsai, Michael Y MY; Taylor, Herman A HA; Correa, Adolfo A; Griswold, Michael E ME; Lange, Leslie A LA; Starr, John M JM; Rudan, Igor I; Eiriksdottir, Gudny G; Launer, Lenore J LJ; Ordovas, Jose M JM; Levy, Daniel D; Chen, Y-D Ida YD; Reiner, Alexander P AP; Hayward, Caroline C; Polasek, Ozren O; Deary, Ian J IJ; Borecki, Ingrid B IB; Liu, Yongmei Y; Gudnason, Vilmundur V; Wilson, James G JG; van Duijn, Cornelia M CM; Kooperberg, Charles C; Rich, Stephen S SS; Psaty, Bruce M BM; Rotter, Jerome I JI; O'Donnell, Christopher J CJ; Rice, Kenneth K; Boerwinkle, Eric E; Kathiresan, Sekar S; Cupples, L Adrienne LA
Publication Date: 2014-02-06

Variant appearance in text: MAP1A: 7046C>T; Pro2349Leu; rs55707100
PubMed Link: 24507774
Variant Present in the following documents:
  • Main text
View BVdb publication page