SMAD3 c.207-6928A>G

Variant ID: 15-67450305-A-G

NM_005902.3(SMAD3):c.207-6928A>G

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Genomics of asthma, allergy and chronic rhinosinusitis: novel concepts and relevance in airway mucosa.

Clinical And Translational Allergy
Laulajainen-Hongisto, Anu A; Lyly, Annina A; Hanif, Tanzeela T; Dhaygude, Kishor K; Kankainen, Matti M; Renkonen, Risto R; Donner, Kati K; Mattila, Pirkko P; Jartti, Tuomas T; Bousquet, Jean J; Kauppi, Paula P; Toppila-Salmi, Sanna S
Publication Date: 2020

Variant appearance in text: rs17228058
PubMed Link: 33133517
Variant Present in the following documents:
  • Main text
  • CLT2-10-45.pdf
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Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs17228058
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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The DNA methylome of inflammatory bowel disease (IBD) reflects intrinsic and extrinsic factors in intestinal mucosal cells.

Epigenetics
Agliata, Iolanda I; Fernandez-Jimenez, Nora N; Goldsmith, Chloe C; Marie, Julien C JC; Bilbao, Jose R JR; Dante, Robert R; Hernandez-Vargas, Hector H
Publication Date: 2020-10

Variant appearance in text: rs17228058
PubMed Link: 32281463
Variant Present in the following documents:
  • Main text
  • KEPI_15_1748916.pdf
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Impact of atopy on risk of glioma: a Mendelian randomisation study.

Bmc Medicine
Disney-Hogg, Linden L; Cornish, Alex J AJ; Sud, Amit A; Law, Philip J PJ; Kinnersley, Ben B; Jacobs, Daniel I DI; Ostrom, Quinn T QT; Labreche, Karim K; Eckel-Passow, Jeanette E JE; Armstrong, Georgina N GN; Claus, Elizabeth B EB; Il'yasova, Dora D; Schildkraut, Joellen J; Barnholtz-Sloan, Jill S JS; Olson, Sara H SH; Bernstein, Jonine L JL; Lai, Rose K RK; Schoemaker, Minouk J MJ; Simon, Matthias M; Hoffmann, Per P; Nöthen, Markus M MM; Jöckel, Karl-Heinz KH; Chanock, Stephen S; Rajaraman, Preetha P; Johansen, Christoffer C; Jenkins, Robert B RB; Melin, Beatrice S BS; Wrensch, Margaret R MR; Sanson, Marc M; Bondy, Melissa L ML; Houlston, Richard S RS
Publication Date: 2018-03-15

Variant appearance in text: rs17228058
PubMed Link: 29540232
Variant Present in the following documents:
  • Main text
  • 12916_2018_Article_1027.pdf
View BVdb publication page



Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Publication Date: 2017-07-13

Variant appearance in text: rs17228058
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page



Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.

Journal Of The American College Of Cardiology
Webb, Thomas R TR; Erdmann, Jeanette J; Stirrups, Kathleen E KE; Stitziel, Nathan O NO; Masca, Nicholas G D NG; Jansen, Henning H; Kanoni, Stavroula S; Nelson, Christopher P CP; Ferrario, Paola G PG; König, Inke R IR; Eicher, John D JD; Johnson, Andrew D AD; Hamby, Stephen E SE; Betsholtz, Christer C; Ruusalepp, Arno A; Franzén, Oscar O; Schadt, Eric E EE; Björkegren, Johan L M JL; Weeke, Peter E PE; Auer, Paul L PL; Schick, Ursula M UM; Lu, Yingchang Y; Zhang, He H; Dube, Marie-Pierre MP; Goel, Anuj A; Farrall, Martin M; Peloso, Gina M GM; Won, Hong-Hee HH; Do, Ron R; van Iperen, Erik E; Kruppa, Jochen J; Mahajan, Anubha A; Scott, Robert A RA; Willenborg, Christina C; Braund, Peter S PS; van Capelleveen, Julian C JC; Doney, Alex S F AS; Donnelly, Louise A LA; Asselta, Rosanna R; Merlini, Pier A PA; Duga, Stefano S; Marziliano, Nicola N; Denny, Josh C JC; Shaffer, Christian C; El-Mokhtari, Nour Eddine NE; Franke, Andre A; Heilmann, Stefanie S; Hengstenberg, Christian C; Hoffmann, Per P; Holmen, Oddgeir L OL; Hveem, Kristian K; Jansson, Jan-Håkan JH; Jöckel, Karl-Heinz KH; Kessler, Thorsten T; Kriebel, Jennifer J; Laugwitz, Karl L KL; Marouli, Eirini E; Martinelli, Nicola N; McCarthy, Mark I MI; Van Zuydam, Natalie R NR; Meisinger, Christa C; Esko, Tõnu T; Mihailov, Evelin E; Escher, Stefan A SA; Alver, Maris M; Moebus, Susanne S; Morris, Andrew D AD; Virtamo, Jarma J; Nikpay, Majid M; Olivieri, Oliviero O; Provost, Sylvie S; AlQarawi, Alaa A; Robertson, Neil R NR; Akinsansya, Karen O KO; Reilly, Dermot F DF; Vogt, Thomas F TF; Yin, Wu W; Asselbergs, Folkert W FW; Kooperberg, Charles C; Jackson, Rebecca D RD; Stahl, Eli E; Müller-Nurasyid, Martina M; Strauch, Konstantin K; Varga, Tibor V TV; Waldenberger, Melanie M; , ; Zeng, Lingyao L; Chowdhury, Rajiv R; Salomaa, Veikko V; Ford, Ian I; Jukema, J Wouter JW; Amouyel, Philippe P; Kontto, Jukka J; , ; Nordestgaard, Børge G BG; Ferrières, Jean J; Saleheen, Danish D; Sattar, Naveed N; Surendran, Praveen P; Wagner, Aline A; Young, Robin R; Howson, Joanna M M JM; Butterworth, Adam S AS; Danesh, John J; Ardissino, Diego D; Bottinger, Erwin P EP; Erbel, Raimund R; Franks, Paul W PW; Girelli, Domenico D; Hall, Alistair S AS; Hovingh, G Kees GK; Kastrati, Adnan A; Lieb, Wolfgang W; Meitinger, Thomas T; Kraus, William E WE; Shah, Svati H SH; McPherson, Ruth R; Orho-Melander, Marju M; Melander, Olle O; Metspalu, Andres A; Palmer, Colin N A CN; Peters, Annette A; Rader, Daniel J DJ; Reilly, Muredach P MP; Loos, Ruth J F RJ; Reiner, Alex P AP; Roden, Dan M DM; Tardif, Jean-Claude JC; Thompson, John R JR; Wareham, Nicholas J NJ; Watkins, Hugh H; Willer, Cristen J CJ; Samani, Nilesh J NJ; Schunkert, Heribert H; Deloukas, Panos P; Kathiresan, Sekar S; ,
Publication Date: 2017-02-21

Variant appearance in text: rs17228058
PubMed Link: 28209224
Variant Present in the following documents:
  • Main text
  • main.pdf
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Epigenome-wide analysis links SMAD3 methylation at birth to asthma in children of asthmatic mothers.

The Journal Of Allergy And Clinical Immunology
DeVries, Avery A; Wlasiuk, Gabriela G; Miller, Susan J SJ; Bosco, Anthony A; Stern, Debra A DA; Lohman, I Carla IC; Rothers, Janet J; Jones, Anya C AC; Nicodemus-Johnson, Jessie J; Vasquez, Monica M MM; Curtin, John A JA; Simpson, Angela A; Custovic, Adnan A; Jackson, Daniel J DJ; Gern, James E JE; Lemanske, Robert F RF; Guerra, Stefano S; Wright, Anne L AL; Ober, Carole C; Halonen, Marilyn M; Vercelli, Donata D
Publication Date: 2017-08

Variant appearance in text: rs17228058
PubMed Link: 28011059
Variant Present in the following documents:
  • Main text
View BVdb publication page



Detection and interpretation of shared genetic influences on 42 human traits.

Nature Genetics
Pickrell, Joseph K JK; Berisa, Tomaz T; Liu, Jimmy Z JZ; Ségurel, Laure L; Tung, Joyce Y JY; Hinds, David A DA
Publication Date: 2016-07

Variant appearance in text: rs17228058
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-5.pdf
  • NIHMS780506-supplement-6.pdf
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A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci.

Nature Genetics
Hinds, David A DA; McMahon, George G; Kiefer, Amy K AK; Do, Chuong B CB; Eriksson, Nicholas N; Evans, David M DM; St Pourcain, Beate B; Ring, Susan M SM; Mountain, Joanna L JL; Francke, Uta U; Davey-Smith, George G; Timpson, Nicholas J NJ; Tung, Joyce Y JY
Publication Date: 2013-08

Variant appearance in text: rs17228058
PubMed Link: 23817569
Variant Present in the following documents:
  • Main text
  • NIHMS489582-supplement-1.pdf
View BVdb publication page