NCOA5 c.39-2945A>G

Variant ID: 20-44702120-T-C

NM_020967.2(NCOA5):c.39-2945A>G

This variant was identified in 18 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs2425752
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Tracking the Genetic Susceptibility Background of B-Cell Non-Hodgkin's Lymphomas from Genome-Wide Association Studies.

International Journal Of Molecular Sciences
Hernández-Verdin, Isaias I; Labreche, Karim K; Benazra, Marion M; Mokhtari, Karima K; Hoang-Xuan, Khê K; Alentorn, Agusti A
Publication Date: 2020-12-24

Variant appearance in text: rs2425752
PubMed Link: 33374413
Variant Present in the following documents:
  • Main text
  • ijms-22-00122.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: rs2425752
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
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Improved power and precision with whole genome sequencing data in genome-wide association studies of inflammatory biomarkers.

Scientific Reports
Höglund, Julia J; Rafati, Nima N; Rask-Andersen, Mathias M; Enroth, Stefan S; Karlsson, Torgny T; Ek, Weronica E WE; Johansson, Åsa Å
Publication Date: 2019-11-14

Variant appearance in text: rs2425752
PubMed Link: 31727947
Variant Present in the following documents:
  • Main text
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Breakdown of multiple sclerosis genetics to identify an integrated disease network and potential variant mechanisms.

Physiological Genomics
Shepard, C Joy CJ; Cline, Sara G SG; Hinds, David D; Jahanbakhsh, Seyedehameneh S; Prokop, Jeremy W JW
Publication Date: 2019-11-01

Variant appearance in text: rs2425752
PubMed Link: 31482761
Variant Present in the following documents:
  • Main text
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Genetic overlap between autoimmune diseases and non-Hodgkin lymphoma subtypes.

Genetic Epidemiology
Din, Lennox L; Sheikh, Mohammad M; Kosaraju, Nikitha N; Smedby, Karin Ekstrom KE; Bernatsky, Sasha S; Berndt, Sonja I SI; Skibola, Christine F CF; Nieters, Alexandra A; Wang, Sophia S; McKay, James D JD; Cocco, Pierluigi P; Maynadié, Marc M; Foretová, Lenka L; Staines, Anthony A; Mack, Thomas M TM; de Sanjosé, Silvia S; Vyse, Timothy J TJ; Padyukov, Leonid L; Monnereau, Alain A; Arslan, Alan A AA; Moore, Amy A; Brooks-Wilson, Angela R AR; Novak, Anne J AJ; Glimelius, Bengt B; Birmann, Brenda M BM; Link, Brian K BK; Stewart, Carolyn C; Vajdic, Claire M CM; Haioun, Corinne C; Magnani, Corrado C; Conti, David V DV; Cox, David G DG; Casabonne, Delphine D; Albanes, Demetrius D; Kane, Eleanor E; Roman, Eve E; Muzi, Giacomo G; Salles, Gilles G; Giles, Graham G GG; Adami, Hans-Olov HO; Ghesquières, Hervé H; De Vivo, Immaculata I; Clavel, Jacqueline J; Cerhan, James R JR; Spinelli, John J JJ; Hofmann, Jonathan J; Vijai, Joseph J; Curtin, Karen K; Costenbader, Karen H KH; Onel, Kenan K; Offit, Kenneth K; Teras, Lauren R LR; Morton, Lindsay L; Conde, Lucia L; Miligi, Lucia L; Melbye, Mads M; Ennas, Maria Grazia MG; Liebow, Mark M; Purdue, Mark P MP; Glenn, Martha M; Southey, Melissa C MC; Din, Morris M; Rothman, Nathaniel N; Camp, Nicola J NJ; Wong Doo, Nicole N; Becker, Nikolaus N; Pradhan, Nisha N; Bracci, Paige M PM; Boffetta, Paolo P; Vineis, Paolo P; Brennan, Paul P; Kraft, Peter P; Lan, Qing Q; Severson, Richard K RK; Vermeulen, Roel C H RCH; Milne, Roger L RL; Kaaks, Rudolph R; Travis, Ruth C RC; Weinstein, Stephanie J SJ; Chanock, Stephen J SJ; Ansell, Stephen M SM; Slager, Susan L SL; Zheng, Tongzhang T; Zhang, Yawei Y; Benavente, Yolanda Y; Taub, Zachary Z; Madireddy, Lohith L; Gourraud, Pierre-Antoine PA; Oksenberg, Jorge R JR; Cozen, Wendy W; Hjalgrim, Henrik H; Khankhanian, Pouya P
Publication Date: 2019-10

Variant appearance in text: rs2425752
PubMed Link: 31407831
Variant Present in the following documents:
  • Main text
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Genome-wide association study implicates immune dysfunction in the development of Hodgkin lymphoma.

Blood
Sud, Amit A; Thomsen, Hauke H; Orlando, Giulia G; Försti, Asta A; Law, Philip J PJ; Broderick, Peter P; Cooke, Rosie R; Hariri, Fadi F; Pastinen, Tomi T; Easton, Douglas F DF; Pharoah, Paul D P PDP; Dunning, Alison M AM; Peto, Julian J; Canzian, Federico F; Eeles, Rosalind R; Kote-Jarai, ZSofia Z; Muir, Kenneth K; Pashayan, Nora N; Campa, Daniele D; , ; Hoffmann, Per P; Nöthen, Markus M MM; Jöckel, Karl-Heinz KH; von Strandmann, Elke Pogge EP; Swerdlow, Anthony J AJ; Engert, Andreas A; Orr, Nick N; Hemminki, Kari K; Houlston, Richard S RS
Publication Date: 2018-11-08

Variant appearance in text: rs2425752
PubMed Link: 30194254
Variant Present in the following documents:
  • Main text
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A Risk Score for Predicting Multiple Sclerosis.

Plos One
Dobson, Ruth R; Ramagopalan, Sreeram S; Topping, Joanne J; Smith, Paul P; Solanky, Bhavana B; Schmierer, Klaus K; Chard, Declan D; Giovannoni, Gavin G
Publication Date: 2016

Variant appearance in text: rs2425752
PubMed Link: 27802296
Variant Present in the following documents:
  • Main text
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Multiple sclerosis risk loci and disease severity in 7,125 individuals from 10 studies.

Neurology. Genetics
George, Michaela F MF; Briggs, Farren B S FB; Shao, Xiaorong X; Gianfrancesco, Milena A MA; Kockum, Ingrid I; Harbo, Hanne F HF; Celius, Elisabeth G EG; Bos, Steffan D SD; Hedström, Anna A; Shen, Ling L; Bernstein, Allan A; Alfredsson, Lars L; Hillert, Jan J; Olsson, Tomas T; Patsopoulos, Nikolaos A NA; De Jager, Philip L PL; Oturai, Annette B AB; Søndergaard, Helle B HB; Sellebjerg, Finn F; Sorensen, Per S PS; Gomez, Refujia R; Caillier, Stacy J SJ; Cree, Bruce A C BA; Oksenberg, Jorge R JR; Hauser, Stephen L SL; D'Alfonso, Sandra S; Leone, Maurizio A MA; Martinelli Boneschi, Filippo F; Sorosina, Melissa M; van der Mei, Ingrid I; Taylor, Bruce V BV; Zhou, Yuan Y; Schaefer, Catherine C; Barcellos, Lisa F LF
Publication Date: 2016-08

Variant appearance in text: rs2425752
PubMed Link: 27540591
Variant Present in the following documents:
  • Main text
  • NG2015001412.pdf
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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: rs2425752
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-16.pdf
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Combinations of susceptibility genes are associated with higher risk for multiple sclerosis and imply disease course specificity.

Plos One
Akkad, Denis A DA; Olischewsky, Alexandra A; Reiner, Franziska F; Hellwig, Kerstin K; Esser, Sarika S; Epplen, Jörg T JT; Curk, Tomaz T; Gold, Ralf R; Haghikia, Aiden A
Publication Date: 2015

Variant appearance in text: rs2425752
PubMed Link: 26011527
Variant Present in the following documents:
  • Main text
  • pone.0127632.pdf
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Polymorphisms near TBX5 and GDF7 are associated with increased risk for Barrett's esophagus.

Gastroenterology
Palles, Claire C; Chegwidden, Laura L; Li, Xinzhong X; Findlay, John M JM; Farnham, Garry G; Castro Giner, Francesc F; Peppelenbosch, Maikel P MP; Kovac, Michal M; Adams, Claire L CL; Prenen, Hans H; Briggs, Sarah S; Harrison, Rebecca R; Sanders, Scott S; MacDonald, David D; Haigh, Chris C; Tucker, Art A; Love, Sharon S; Nanji, Manoj M; deCaestecker, John J; Ferry, David D; Rathbone, Barrie B; Hapeshi, Julie J; Barr, Hugh H; Moayyedi, Paul P; Watson, Peter P; Zietek, Barbara B; Maroo, Neera N; Gay, Laura L; Underwood, Tim T; Boulter, Lisa L; McMurtry, Hugh H; Monk, David D; Patel, Praful P; Ragunath, Krish K; Al Dulaimi, David D; Murray, Iain I; Koss, Konrad K; Veitch, Andrew A; Trudgill, Nigel N; Nwokolo, Chuka C; Rembacken, Bjorn B; Atherfold, Paul P; Green, Elaine E; Ang, Yeng Y; Kuipers, Ernst J EJ; Chow, Wu W; Paterson, Stuart S; Kadri, Sudarshan S; Beales, Ian I; Grimley, Charles C; Mullins, Paul P; Beckett, Conrad C; Farrant, Mark M; Dixon, Andrew A; Kelly, Sean S; Johnson, Matthew M; Wajed, Shahjehan S; Dhar, Anjan A; Sawyer, Elinor E; Roylance, Rebecca R; Onstad, Lynn L; Gammon, Marilie D MD; Corley, Douglas A DA; Shaheen, Nicholas J NJ; Bird, Nigel C NC; Hardie, Laura J LJ; Reid, Brian J BJ; Ye, Weimin W; Liu, Geoffrey G; Romero, Yvonne Y; Bernstein, Leslie L; Wu, Anna H AH; Casson, Alan G AG; Fitzgerald, Rebecca R; Whiteman, David C DC; Risch, Harvey A HA; Levine, David M DM; Vaughan, Tom L TL; Verhaar, Auke P AP; van den Brande, Jan J; Toxopeus, Eelke L EL; Spaander, Manon C MC; Wijnhoven, Bas P L BP; van der Laan, Luc J W LJ; Krishnadath, Kausilia K; Wijmenga, Cisca C; Trynka, Gosia G; McManus, Ross R; Reynolds, John V JV; O'Sullivan, Jacintha J; MacMathuna, Padraic P; McGarrigle, Sarah A SA; Kelleher, Dermot D; Vermeire, Severine S; Cleynen, Isabelle I; Bisschops, Raf R; Tomlinson, Ian I; Jankowski, Janusz J
Publication Date: 2015-02

Variant appearance in text: rs2425752
PubMed Link: 25447851
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



No evidence for shared genetic basis of common variants in multiple sclerosis and amyotrophic lateral sclerosis.

Human Molecular Genetics
Goris, An A; van Setten, Jessica J; Diekstra, Frank F; Ripke, Stephan S; Patsopoulos, Nikolaos A NA; Sawcer, Stephen J SJ; , ; van Es, Michael M; , ; Andersen, Peter M PM; Melki, Judith J; Meininger, Vincent V; Hardiman, Orla O; Landers, John E JE; Brown, Robert H RH; Shatunov, Aleksey A; Leigh, Nigel N; Al-Chalabi, Ammar A; Shaw, Christopher E CE; Traynor, Bryan J BJ; Chiò, Adriano A; Restagno, Gabriella G; Mora, Gabriele G; Ophoff, Roel A RA; Oksenberg, Jorge R JR; Van Damme, Philip P; Compston, Alastair A; Robberecht, Wim W; Dubois, Bénédicte B; van den Berg, Leonard H LH; De Jager, Philip L PL; Veldink, Jan H JH; de Bakker, Paul I W PI
Publication Date: 2014-04-01

Variant appearance in text: rs2425752
PubMed Link: 24234648
Variant Present in the following documents:
  • Main text
View BVdb publication page



The genetics of multiple sclerosis: review of current and emerging candidates.

The Application Of Clinical Genetics
Muñoz-Culla, Maider M; Irizar, Haritz H; Otaegui, David D
Publication Date: 2013

Variant appearance in text: rs2425752
PubMed Link: 24019748
Variant Present in the following documents:
  • Main text
View BVdb publication page



Progress in multiple sclerosis genetics.

Current Genomics
Goris, An A; Pauwels, Ine I; Dubois, Bénédicte B
Publication Date: 2012-12

Variant appearance in text: rs2425752
PubMed Link: 23730204
Variant Present in the following documents:
  • Main text
  • CG-13-646.pdf
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Genomic regions associated with multiple sclerosis are active in B cells.

Plos One
Disanto, Giulio G; Sandve, Geir Kjetil GK; Berlanga-Taylor, Antonio J AJ; Morahan, Julia M JM; Dobson, Ruth R; Giovannoni, Gavin G; Ramagopalan, Sreeram V SV
Publication Date: 2012

Variant appearance in text: rs2425752
PubMed Link: 22396755
Variant Present in the following documents:
  • Main text
View BVdb publication page



Perspectives on the use of multiple sclerosis risk genes for prediction.

Plos One
Jafari, Naghmeh N; Broer, Linda L; van Duijn, Cornelia M CM; Janssens, A Cecile J W AC; Hintzen, Rogier Q RQ
Publication Date: 2011

Variant appearance in text: rs2425752
PubMed Link: 22164203
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.

Nature
, ; , ; Sawcer, Stephen S; Hellenthal, Garrett G; Pirinen, Matti M; Spencer, Chris C A CC; Patsopoulos, Nikolaos A NA; Moutsianas, Loukas L; Dilthey, Alexander A; Su, Zhan Z; Freeman, Colin C; Hunt, Sarah E SE; Edkins, Sarah S; Gray, Emma E; Booth, David R DR; Potter, Simon C SC; Goris, An A; Band, Gavin G; Oturai, Annette Bang AB; Strange, Amy A; Saarela, Janna J; Bellenguez, Céline C; Fontaine, Bertrand B; Gillman, Matthew M; Hemmer, Bernhard B; Gwilliam, Rhian R; Zipp, Frauke F; Jayakumar, Alagurevathi A; Martin, Roland R; Leslie, Stephen S; Hawkins, Stanley S; Giannoulatou, Eleni E; D'alfonso, Sandra S; Blackburn, Hannah H; Martinelli Boneschi, Filippo F; Liddle, Jennifer J; Harbo, Hanne F HF; Perez, Marc L ML; Spurkland, Anne A; Waller, Matthew J MJ; Mycko, Marcin P MP; Ricketts, Michelle M; Comabella, Manuel M; Hammond, Naomi N; Kockum, Ingrid I; McCann, Owen T OT; Ban, Maria M; Whittaker, Pamela P; Kemppinen, Anu A; Weston, Paul P; Hawkins, Clive C; Widaa, Sara S; Zajicek, John J; Dronov, Serge S; Robertson, Neil N; Bumpstead, Suzannah J SJ; Barcellos, Lisa F LF; Ravindrarajah, Rathi R; Abraham, Roby R; Alfredsson, Lars L; Ardlie, Kristin K; Aubin, Cristin C; Baker, Amie A; Baker, Katharine K; Baranzini, Sergio E SE; Bergamaschi, Laura L; Bergamaschi, Roberto R; Bernstein, Allan A; Berthele, Achim A; Boggild, Mike M; Bradfield, Jonathan P JP; Brassat, David D; Broadley, Simon A SA; Buck, Dorothea D; Butzkueven, Helmut H; Capra, Ruggero R; Carroll, William M WM; Cavalla, Paola P; Celius, Elisabeth G EG; Cepok, Sabine S; Chiavacci, Rosetta R; Clerget-Darpoux, Françoise F; Clysters, Katleen K; Comi, Giancarlo G; Cossburn, Mark M; Cournu-Rebeix, Isabelle I; Cox, Mathew B MB; Cozen, Wendy W; Cree, Bruce A C BA; Cross, Anne H AH; Cusi, Daniele D; Daly, Mark J MJ; Davis, Emma E; de Bakker, Paul I W PI; Debouverie, Marc M; D'hooghe, Marie Beatrice MB; Dixon, Katherine K; Dobosi, Rita R; Dubois, Bénédicte B; Ellinghaus, David D; Elovaara, Irina I; Esposito, Federica F; Fontenille, Claire C; Foote, Simon S; Franke, Andre A; Galimberti, Daniela D; Ghezzi, Angelo A; Glessner, Joseph J; Gomez, Refujia R; Gout, Olivier O; Graham, Colin C; Grant, Struan F A SF; Guerini, Franca Rosa FR; Hakonarson, Hakon H; Hall, Per P; Hamsten, Anders A; Hartung, Hans-Peter HP; Heard, Rob N RN; Heath, Simon S; Hobart, Jeremy J; Hoshi, Muna M; Infante-Duarte, Carmen C; Ingram, Gillian G; Ingram, Wendy W; Islam, Talat T; Jagodic, Maja M; Kabesch, Michael M; Kermode, Allan G AG; Kilpatrick, Trevor J TJ; Kim, Cecilia C; Klopp, Norman N; Koivisto, Keijo K; Larsson, Malin M; Lathrop, Mark M; Lechner-Scott, Jeannette S JS; Leone, Maurizio A MA; Leppä, Virpi V; Liljedahl, Ulrika U; Bomfim, Izaura Lima IL; Lincoln, Robin R RR; Link, Jenny J; Liu, Jianjun J; Lorentzen, Aslaug R AR; Lupoli, Sara S; Macciardi, Fabio F; Mack, Thomas T; Marriott, Mark M; Martinelli, Vittorio V; Mason, Deborah D; McCauley, Jacob L JL; Mentch, Frank F; Mero, Inger-Lise IL; Mihalova, Tania T; Montalban, Xavier X; Mottershead, John J; Myhr, Kjell-Morten KM; Naldi, Paola P; Ollier, William W; Page, Alison A; Palotie, Aarno A; Pelletier, Jean J; Piccio, Laura L; Pickersgill, Trevor T; Piehl, Fredrik F; Pobywajlo, Susan S; Quach, Hong L HL; Ramsay, Patricia P PP; Reunanen, Mauri M; Reynolds, Richard R; Rioux, John D JD; Rodegher, Mariaemma M; Roesner, Sabine S; Rubio, Justin P JP; Rückert, Ina-Maria IM; Salvetti, Marco M; Salvi, Erika E; Santaniello, Adam A; Schaefer, Catherine A CA; Schreiber, Stefan S; Schulze, Christian C; Scott, Rodney J RJ; Sellebjerg, Finn F; Selmaj, Krzysztof W KW; Sexton, David D; Shen, Ling L; Simms-Acuna, Brigid B; Skidmore, Sheila S; Sleiman, Patrick M A PM; Smestad, Cathrine C; Sørensen, Per Soelberg PS; Søndergaard, Helle Bach HB; Stankovich, Jim J; Strange, Richard C RC; Sulonen, Anna-Maija AM; Sundqvist, Emilie E; Syvänen, Ann-Christine AC; Taddeo, Francesca F; Taylor, Bruce B; Blackwell, Jenefer M JM; Tienari, Pentti P; Bramon, Elvira E; Tourbah, Ayman A; Brown, Matthew A MA; Tronczynska, Ewa E; Casas, Juan P JP; Tubridy, Niall N; Corvin, Aiden A; Vickery, Jane J; Jankowski, Janusz J; Villoslada, Pablo P; Markus, Hugh S HS; Wang, Kai K; Mathew, Christopher G CG; Wason, James J; Palmer, Colin N A CN; Wichmann, H-Erich HE; Plomin, Robert R; Willoughby, Ernest E; Rautanen, Anna A; Winkelmann, Juliane J; Wittig, Michael M; Trembath, Richard C RC; Yaouanq, Jacqueline J; Viswanathan, Ananth C AC; Zhang, Haitao H; Wood, Nicholas W NW; Zuvich, Rebecca R; Deloukas, Panos P; Langford, Cordelia C; Duncanson, Audrey A; Oksenberg, Jorge R JR; Pericak-Vance, Margaret A MA; Haines, Jonathan L JL; Olsson, Tomas T; Hillert, Jan J; Ivinson, Adrian J AJ; De Jager, Philip L PL; Peltonen, Leena L; Stewart, Graeme J GJ; Hafler, David A DA; Hauser, Stephen L SL; McVean, Gil G; Donnelly, Peter P; Compston, Alastair A
Publication Date: 2011-08-10

Variant appearance in text: rs2425752
PubMed Link: 21833088
Variant Present in the following documents:
  • NIHMS36028-supplement-1.pdf
View BVdb publication page