NT5DC2 c.232+840C>T

Variant ID: 3-52566682-G-A

NM_001134231.1(NT5DC2):c.232+840C>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


EBF1 drives hallmark B cell gene expression by enabling the interaction of PAX5 with the MLL H3K4 methyltransferase complex.

Scientific Reports
Bullerwell, Charles E CE; Robichaud, Philippe Pierre PP; Deprez, Pierre M L PML; Joy, Andrew P AP; Wajnberg, Gabriel G; D'Souza, Darwin D; Chacko, Simi S; Fournier, Sébastien S; Crapoulet, Nicolas N; Barnett, David A DA; Lewis, Stephen M SM; Ouellette, Rodney J RJ
Publication Date: 2021-01-15

Variant appearance in text: rs7636227
PubMed Link: 33452395
Variant Present in the following documents:
  • 41598_2021_81000_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



New genetic loci link adipose and insulin biology to body fat distribution.

Nature
Shungin, Dmitry D; Winkler, Thomas W TW; Croteau-Chonka, Damien C DC; Ferreira, Teresa T; Locke, Adam E AE; Mägi, Reedik R; Strawbridge, Rona J RJ; Pers, Tune H TH; Fischer, Krista K; Justice, Anne E AE; Workalemahu, Tsegaselassie T; Wu, Joseph M W JMW; Buchkovich, Martin L ML; Heard-Costa, Nancy L NL; Roman, Tamara S TS; Drong, Alexander W AW; Song, Ci C; Gustafsson, Stefan S; Day, Felix R FR; Esko, Tonu T; Fall, Tove T; Kutalik, Zoltán Z; Luan, Jian'an J; Randall, Joshua C JC; Scherag, André A; Vedantam, Sailaja S; Wood, Andrew R AR; Chen, Jin J; Fehrmann, Rudolf R; Karjalainen, Juha J; Kahali, Bratati B; Liu, Ching-Ti CT; Schmidt, Ellen M EM; Absher, Devin D; Amin, Najaf N; Anderson, Denise D; Beekman, Marian M; Bragg-Gresham, Jennifer L JL; Buyske, Steven S; Demirkan, Ayse A; Ehret, Georg B GB; Feitosa, Mary F MF; Goel, Anuj A; Jackson, Anne U AU; Johnson, Toby T; Kleber, Marcus E ME; Kristiansson, Kati K; Mangino, Massimo M; Leach, Irene Mateo IM; Medina-Gomez, Carolina C; Palmer, Cameron D CD; Pasko, Dorota D; Pechlivanis, Sonali S; Peters, Marjolein J MJ; Prokopenko, Inga I; Stančáková, Alena A; Sung, Yun Ju YJ; Tanaka, Toshiko T; Teumer, Alexander A; Van Vliet-Ostaptchouk, Jana V JV; Yengo, Loïc L; Zhang, Weihua W; Albrecht, Eva E; Ärnlöv, Johan J; Arscott, Gillian M GM; Bandinelli, Stefania S; Barrett, Amy A; Bellis, Claire C; Bennett, Amanda J AJ; Berne, Christian C; Blüher, Matthias M; Böhringer, Stefan S; Bonnet, Fabrice F; Böttcher, Yvonne Y; Bruinenberg, Marcel M; Carba, Delia B DB; Caspersen, Ida H IH; Clarke, Robert R; Daw, E Warwick EW; Deelen, Joris J; Deelman, Ewa E; Delgado, Graciela G; Doney, Alex Sf AS; Eklund, Niina N; Erdos, Michael R MR; Estrada, Karol K; Eury, Elodie E; Friedrich, Nele N; Garcia, Melissa E ME; Giedraitis, Vilmantas V; Gigante, Bruna B; Go, Alan S AS; Golay, Alain A; Grallert, Harald H; Grammer, Tanja B TB; Gräßler, Jürgen J; Grewal, Jagvir J; Groves, Christopher J CJ; Haller, Toomas T; Hallmans, Goran G; Hartman, Catharina A CA; Hassinen, Maija M; Hayward, Caroline C; Heikkilä, Kauko K; Herzig, Karl-Heinz KH; Helmer, Quinta Q; Hillege, Hans L HL; Holmen, Oddgeir O; Hunt, Steven C SC; Isaacs, Aaron A; Ittermann, Till T; James, Alan L AL; Johansson, Ingegerd I; Juliusdottir, Thorhildur T; Kalafati, Ioanna-Panagiota IP; Kinnunen, Leena L; Koenig, Wolfgang W; Kooner, Ishminder K IK; Kratzer, Wolfgang W; Lamina, Claudia C; Leander, Karin K; Lee, Nanette R NR; Lichtner, Peter P; Lind, Lars L; Lindström, Jaana J; Lobbens, Stéphane S; Lorentzon, Mattias M; Mach, François F; Magnusson, Patrik Ke PK; Mahajan, Anubha A; McArdle, Wendy L WL; Menni, Cristina C; Merger, Sigrun S; Mihailov, Evelin E; Milani, Lili L; Mills, Rebecca R; Moayyeri, Alireza A; Monda, Keri L KL; Mooijaart, Simon P SP; Mühleisen, Thomas W TW; Mulas, Antonella A; Müller, Gabriele G; Müller-Nurasyid, Martina M; Nagaraja, Ramaiah R; Nalls, Michael A MA; Narisu, Narisu N; Glorioso, Nicola N; Nolte, Ilja M IM; Olden, Matthias M; Rayner, Nigel W NW; Renstrom, Frida F; Ried, Janina S JS; Robertson, Neil R NR; Rose, Lynda M LM; Sanna, Serena S; Scharnagl, Hubert H; Scholtens, Salome S; Sennblad, Bengt B; Seufferlein, Thomas T; Sitlani, Colleen M CM; Smith, Albert Vernon AV; Stirrups, Kathleen K; Stringham, Heather M HM; Sundström, Johan J; Swertz, Morris A MA; Swift, Amy J AJ; Syvänen, Ann-Christine AC; Tayo, Bamidele O BO; Thorand, Barbara B; Thorleifsson, Gudmar G; Tomaschitz, Andreas A; Troffa, Chiara C; van Oort, Floor Va FV; Verweij, Niek N; Vonk, Judith M JM; Waite, Lindsay L LL; Wennauer, Roman R; Wilsgaard, Tom T; Wojczynski, Mary K MK; Wong, Andrew A; Zhang, Qunyuan Q; Zhao, Jing Hua JH; Brennan, Eoin P EP; Choi, Murim M; Eriksson, Per P; Folkersen, Lasse L; Franco-Cereceda, Anders A; Gharavi, Ali G AG; Hedman, Åsa K ÅK; Hivert, Marie-France MF; Huang, Jinyan J; Kanoni, Stavroula S; Karpe, Fredrik F; Keildson, Sarah S; Kiryluk, Krzysztof K; Liang, Liming L; Lifton, Richard P RP; Ma, Baoshan B; McKnight, Amy J AJ; McPherson, Ruth R; Metspalu, Andres A; Min, Josine L JL; Moffatt, Miriam F MF; Montgomery, Grant W GW; Murabito, Joanne M JM; Nicholson, George G; Nyholt, Dale R DR; Olsson, Christian C; Perry, John Rb JR; Reinmaa, Eva E; Salem, Rany M RM; Sandholm, Niina N; Schadt, Eric E EE; Scott, Robert A RA; Stolk, Lisette L; Vallejo, Edgar E EE; Westra, Harm-Jan HJ; Zondervan, Krina T KT; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Amouyel, Philippe P; Arveiler, Dominique D; Bakker, Stephan Jl SJ; Beilby, John J; Bergman, Richard N RN; Blangero, John J; Brown, Morris J MJ; Burnier, Michel M; Campbell, Harry H; Chakravarti, Aravinda A; Chines, Peter S PS; Claudi-Boehm, Simone S; Collins, Francis S FS; Crawford, Dana C DC; Danesh, John J; de Faire, Ulf U; de Geus, Eco Jc EJ; Dörr, Marcus M; Erbel, Raimund R; Eriksson, Johan G JG; Farrall, Martin M; Ferrannini, Ele E; Ferrières, Jean J; Forouhi, Nita G NG; Forrester, Terrence T; Franco, Oscar H OH; Gansevoort, Ron T RT; Gieger, Christian C; Gudnason, Vilmundur V; Haiman, Christopher A CA; Harris, Tamara B TB; Hattersley, Andrew T AT; Heliövaara, Markku M; Hicks, Andrew A AA; Hingorani, Aroon D AD; Hoffmann, Wolfgang W; Hofman, Albert A; Homuth, Georg G; Humphries, Steve E SE; Hyppönen, Elina E; Illig, Thomas T; Jarvelin, Marjo-Riitta MR; Johansen, Berit B; Jousilahti, Pekka P; Jula, Antti M AM; Kaprio, Jaakko J; Kee, Frank F; Keinanen-Kiukaanniemi, Sirkka M SM; Kooner, Jaspal S JS; Kooperberg, Charles C; Kovacs, Peter P; Kraja, Aldi T AT; Kumari, Meena M; Kuulasmaa, Kari K; Kuusisto, Johanna J; Lakka, Timo A TA; Langenberg, Claudia C; Le Marchand, Loic L; Lehtimäki, Terho T; Lyssenko, Valeriya V; Männistö, Satu S; Marette, André A; Matise, Tara C TC; McKenzie, Colin A CA; McKnight, Barbara B; Musk, Arthur W AW; Möhlenkamp, Stefan S; Morris, Andrew D AD; Nelis, Mari M; Ohlsson, Claes C; Oldehinkel, Albertine J AJ; Ong, Ken K KK; Palmer, Lyle J LJ; Penninx, Brenda W BW; Peters, Annette A; Pramstaller, Peter P PP; Raitakari, Olli T OT; Rankinen, Tuomo T; Rao, D C DC; Rice, Treva K TK; Ridker, Paul M PM; Ritchie, Marylyn D MD; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Saramies, Jouko J; Sarzynski, Mark A MA; Schwarz, Peter Eh PE; Shuldiner, Alan R AR; Staessen, Jan A JA; Steinthorsdottir, Valgerdur V; Stolk, Ronald P RP; Strauch, Konstantin K; Tönjes, Anke A; Tremblay, Angelo A; Tremoli, Elena E; Vohl, Marie-Claude MC; Völker, Uwe U; Vollenweider, Peter P; Wilson, James F JF; Witteman, Jacqueline C JC; Adair, Linda S LS; Bochud, Murielle M; Boehm, Bernhard O BO; Bornstein, Stefan R SR; Bouchard, Claude C; Cauchi, Stéphane S; Caulfield, Mark J MJ; Chambers, John C JC; Chasman, Daniel I DI; Cooper, Richard S RS; Dedoussis, George G; Ferrucci, Luigi L; Froguel, Philippe P; Grabe, Hans-Jörgen HJ; Hamsten, Anders A; Hui, Jennie J; Hveem, Kristian K; Jöckel, Karl-Heinz KH; Kivimaki, Mika M; Kuh, Diana D; Laakso, Markku M; Liu, Yongmei Y; März, Winfried W; Munroe, Patricia B PB; Njølstad, Inger I; Oostra, Ben A BA; Palmer, Colin Na CN; Pedersen, Nancy L NL; Perola, Markus M; Pérusse, Louis L; Peters, Ulrike U; Power, Chris C; Quertermous, Thomas T; Rauramaa, Rainer R; Rivadeneira, Fernando F; Saaristo, Timo E TE; Saleheen, Danish D; Sinisalo, Juha J; Slagboom, P Eline PE; Snieder, Harold H; Spector, Tim D TD; Stefansson, Kari K; Stumvoll, Michael M; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van der Harst, Pim P; Veronesi, Giovanni G; Walker, Mark M; Wareham, Nicholas J NJ; Watkins, Hugh H; Wichmann, H-Erich HE; Abecasis, Goncalo R GR; Assimes, Themistocles L TL; Berndt, Sonja I SI; Boehnke, Michael M; Borecki, Ingrid B IB; Deloukas, Panos P; Franke, Lude L; Frayling, Timothy M TM; Groop, Leif C LC; Hunter, David J DJ; Kaplan, Robert C RC; O'Connell, Jeffrey R JR; Qi, Lu L; Schlessinger, David D; Strachan, David P DP; Thorsteinsdottir, Unnur U; van Duijn, Cornelia M CM; Willer, Cristen J CJ; Visscher, Peter M PM; Yang, Jian J; Hirschhorn, Joel N JN; Zillikens, M Carola MC; McCarthy, Mark I MI; Speliotes, Elizabeth K EK; North, Kari E KE; Fox, Caroline S CS; Barroso, Inês I; Franks, Paul W PW; Ingelsson, Erik E; Heid, Iris M IM; Loos, Ruth Jf RJ; Cupples, L Adrienne LA; Morris, Andrew P AP; Lindgren, Cecilia M CM; Mohlke, Karen L KL
Publication Date: 2015-02-12

Variant appearance in text: rs7636227
PubMed Link: 25673412
Variant Present in the following documents:
  • NIHMS61357-supplement-2.pdf
View BVdb publication page