DDB2 c.456+7797G>A

Variant ID: 11-47246397-G-A

NM_000107.2(DDB2):c.456+7797G>A

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Whole-genome profiling of nasopharyngeal carcinoma reveals viral-host co-operation in inflammatory NF-κB activation and immune escape.

Nature Communications
Bruce, Jeff P JP; To, Ka-Fai KF; Lui, Vivian W Y VWY; Chung, Grace T Y GTY; Chan, Yuk-Yu YY; Tsang, Chi Man CM; Yip, Kevin Y KY; Ma, Brigette B Y BBY; Woo, John K S JKS; Hui, Edwin P EP; Mak, Michael K F MKF; Lee, Sau-Dan SD; Chow, Chit C; Velapasamy, Sharmila S; Or, Yvonne Y Y YYY; Siu, Pui Kei PK; El Ghamrasni, Samah S; Prokopec, Stephenie S; Wu, Man M; Kwan, Johnny S H JSH; Liu, Yuchen Y; Chan, Jason Y K JYK; van Hasselt, C Andrew CA; Young, Lawrence S LS; Dawson, Christopher W CW; Paterson, Ian C IC; Yap, Lee-Fah LF; Tsao, Sai-Wah SW; Liu, Fei-Fei FF; Chan, Anthony T C ATC; Pugh, Trevor J TJ; Lo, Kwok-Wai KW
Publication Date: 2021-07-07

Variant appearance in text: rs7395581
PubMed Link: 34234122
Variant Present in the following documents:
  • 41467_2021_24348_MOESM4_ESM.xlsx, sheet 1
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Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Nature Communications
Nielsen, Jonas B JB; Rom, Oren O; Surakka, Ida I; Graham, Sarah E SE; Zhou, Wei W; Roychowdhury, Tanmoy T; Fritsche, Lars G LG; Gagliano Taliun, Sarah A SA; Sidore, Carlo C; Liu, Yuhao Y; Gabrielsen, Maiken E ME; Skogholt, Anne Heidi AH; Wolford, Brooke B; Overton, William W; Zhao, Ying Y; Chen, Jin J; Zhang, He H; Hornsby, Whitney E WE; Acheampong, Akua A; Grooms, Austen A; Schaefer, Amanda A; Zajac, Gregory J M GJM; Villacorta, Luis L; Zhang, Jifeng J; Brumpton, Ben B; Løset, Mari M; Rai, Vivek V; Lundegaard, Pia R PR; Olesen, Morten S MS; Taylor, Kent D KD; Palmer, Nicholette D ND; Chen, Yii-Der YD; Choi, Seung H SH; Lubitz, Steven A SA; Ellinor, Patrick T PT; Barnes, Kathleen C KC; Daya, Michelle M; Rafaels, Nicholas N; Weiss, Scott T ST; Lasky-Su, Jessica J; Tracy, Russell P RP; Vasan, Ramachandran S RS; Cupples, L Adrienne LA; Mathias, Rasika A RA; Yanek, Lisa R LR; Becker, Lewis C LC; Peyser, Patricia A PA; Bielak, Lawrence F LF; Smith, Jennifer A JA; Aslibekyan, Stella S; Hidalgo, Bertha A BA; Arnett, Donna K DK; Irvin, Marguerite R MR; Wilson, James G JG; Musani, Solomon K SK; Correa, Adolfo A; Rich, Stephen S SS; Guo, Xiuqing X; Rotter, Jerome I JI; Konkle, Barbara A BA; Johnsen, Jill M JM; Ashley-Koch, Allison E AE; Telen, Marilyn J MJ; Sheehan, Vivien A VA; Blangero, John J; Curran, Joanne E JE; Peralta, Juan M JM; Montgomery, Courtney C; Sheu, Wayne H-H WH; Chung, Ren-Hua RH; Schwander, Karen K; Nouraie, Seyed M SM; Gordeuk, Victor R VR; Zhang, Yingze Y; Kooperberg, Charles C; Reiner, Alexander P AP; Jackson, Rebecca D RD; Bleecker, Eugene R ER; Meyers, Deborah A DA; Li, Xingnan X; Das, Sayantan S; Yu, Ketian K; LeFaive, Jonathon J; Smith, Albert A; Blackwell, Tom T; Taliun, Daniel D; Zollner, Sebastian S; Forer, Lukas L; Schoenherr, Sebastian S; Fuchsberger, Christian C; Pandit, Anita A; Zawistowski, Matthew M; Kheterpal, Sachin S; Brummett, Chad M CM; Natarajan, Pradeep P; Schlessinger, David D; Lee, Seunggeun S; Kang, Hyun Min HM; Cucca, Francesco F; Holmen, Oddgeir L OL; Åsvold, Bjørn O BO; Boehnke, Michael M; Kathiresan, Sekar S; Abecasis, Goncalo R GR; Chen, Y Eugene YE; Willer, Cristen J CJ; Hveem, Kristian K
Publication Date: 2020-12-18

Variant appearance in text: rs7395581
PubMed Link: 33339817
Variant Present in the following documents:
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 2
  • 41467_2020_20086_MOESM4_ESM.xlsx, sheet 4
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Genome-wide analysis of the genetic regulation of gene expression in human neutrophils.

Nature Communications
Andiappan, Anand Kumar AK; Melchiotti, Rossella R; Poh, Tuang Yeow TY; Nah, Michelle M; Puan, Kia Joo KJ; Vigano, Elena E; Haase, Doreen D; Yusof, Nurhashikin N; San Luis, Boris B; Lum, Josephine J; Kumar, Dilip D; Foo, Shihui S; Zhuang, Li L; Vasudev, Anusha A; Irwanto, Astrid A; Lee, Bernett B; Nardin, Alessandra A; Liu, Hong H; Zhang, Furen F; Connolly, John J; Liu, Jianjun J; Mortellaro, Alessandra A; Wang, De Yun Y; Poidinger, Michael M; Larbi, Anis A; Zolezzi, Francesca F; Rotzschke, Olaf O
Publication Date: 2015-08-10

Variant appearance in text: rs7395581
PubMed Link: 26259071
Variant Present in the following documents:
  • ncomms8971-s1.pdf
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The impact of low-frequency and rare variants on lipid levels.

Nature Genetics
Surakka, Ida I; Horikoshi, Momoko M; Mägi, Reedik R; Sarin, Antti-Pekka AP; Mahajan, Anubha A; Lagou, Vasiliki V; Marullo, Letizia L; Ferreira, Teresa T; Miraglio, Benjamin B; Timonen, Sanna S; Kettunen, Johannes J; Pirinen, Matti M; Karjalainen, Juha J; Thorleifsson, Gudmar G; Hägg, Sara S; Hottenga, Jouke-Jan JJ; Isaacs, Aaron A; Ladenvall, Claes C; Beekman, Marian M; Esko, Tõnu T; Ried, Janina S JS; Nelson, Christopher P CP; Willenborg, Christina C; Gustafsson, Stefan S; Westra, Harm-Jan HJ; Blades, Matthew M; de Craen, Anton J M AJ; de Geus, Eco J EJ; Deelen, Joris J; Grallert, Harald H; Hamsten, Anders A; Havulinna, Aki S AS; Hengstenberg, Christian C; Houwing-Duistermaat, Jeanine J JJ; Hyppönen, Elina E; Karssen, Lennart C LC; Lehtimäki, Terho T; Lyssenko, Valeriya V; Magnusson, Patrik K E PK; Mihailov, Evelin E; Müller-Nurasyid, Martina M; Mpindi, John-Patrick JP; Pedersen, Nancy L NL; Penninx, Brenda W J H BW; Perola, Markus M; Pers, Tune H TH; Peters, Annette A; Rung, Johan J; Smit, Johannes H JH; Steinthorsdottir, Valgerdur V; Tobin, Martin D MD; Tsernikova, Natalia N; van Leeuwen, Elisabeth M EM; Viikari, Jorma S JS; Willems, Sara M SM; Willemsen, Gonneke G; Schunkert, Heribert H; Erdmann, Jeanette J; Samani, Nilesh J NJ; Kaprio, Jaakko J; Lind, Lars L; Gieger, Christian C; Metspalu, Andres A; Slagboom, P Eline PE; Groop, Leif L; van Duijn, Cornelia M CM; Eriksson, Johan G JG; Jula, Antti A; Salomaa, Veikko V; Boomsma, Dorret I DI; Power, Christine C; Raitakari, Olli T OT; Ingelsson, Erik E; Järvelin, Marjo-Riitta MR; Thorsteinsdottir, Unnur U; Franke, Lude L; Ikonen, Elina E; Kallioniemi, Olli O; Pietiäinen, Vilja V; Lindgren, Cecilia M CM; Stefansson, Kari K; Palotie, Aarno A; McCarthy, Mark I MI; Morris, Andrew P AP; Prokopenko, Inga I; Ripatti, Samuli S; ,
Publication Date: 2015-06

Variant appearance in text: rs7395581
PubMed Link: 25961943
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index.

Nature Genetics
Speliotes, Elizabeth K EK; Willer, Cristen J CJ; Berndt, Sonja I SI; Monda, Keri L KL; Thorleifsson, Gudmar G; Jackson, Anne U AU; Lango Allen, Hana H; Lindgren, Cecilia M CM; Luan, Jian'an J; Mägi, Reedik R; Randall, Joshua C JC; Vedantam, Sailaja S; Winkler, Thomas W TW; Qi, Lu L; Workalemahu, Tsegaselassie T; Heid, Iris M IM; Steinthorsdottir, Valgerdur V; Stringham, Heather M HM; Weedon, Michael N MN; Wheeler, Eleanor E; Wood, Andrew R AR; Ferreira, Teresa T; Weyant, Robert J RJ; Segrè, Ayellet V AV; Estrada, Karol K; Liang, Liming L; Nemesh, James J; Park, Ju-Hyun JH; Gustafsson, Stefan S; Kilpeläinen, Tuomas O TO; Yang, Jian J; Bouatia-Naji, Nabila N; Esko, Tõnu T; Feitosa, Mary F MF; Kutalik, Zoltán Z; Mangino, Massimo M; Raychaudhuri, Soumya S; Scherag, Andre A; Smith, Albert Vernon AV; Welch, Ryan R; Zhao, Jing Hua JH; Aben, Katja K KK; Absher, Devin M DM; Amin, Najaf N; Dixon, Anna L AL; Fisher, Eva E; Glazer, Nicole L NL; Goddard, Michael E ME; Heard-Costa, Nancy L NL; Hoesel, Volker V; Hottenga, Jouke-Jan JJ; Johansson, Asa A; Johnson, Toby T; Ketkar, Shamika S; Lamina, Claudia C; Li, Shengxu S; Moffatt, Miriam F MF; Myers, Richard H RH; Narisu, Narisu N; Perry, John R B JR; Peters, Marjolein J MJ; Preuss, Michael M; Ripatti, Samuli S; Rivadeneira, Fernando F; Sandholt, Camilla C; Scott, Laura J LJ; Timpson, Nicholas J NJ; Tyrer, Jonathan P JP; van Wingerden, Sophie S; Watanabe, Richard M RM; White, Charles C CC; Wiklund, Fredrik F; Barlassina, Christina C; Chasman, Daniel I DI; Cooper, Matthew N MN; Jansson, John-Olov JO; Lawrence, Robert W RW; Pellikka, Niina N; Prokopenko, Inga I; Shi, Jianxin J; Thiering, Elisabeth E; Alavere, Helene H; Alibrandi, Maria T S MT; Almgren, Peter P; Arnold, Alice M AM; Aspelund, Thor T; Atwood, Larry D LD; Balkau, Beverley B; Balmforth, Anthony J AJ; Bennett, Amanda J AJ; Ben-Shlomo, Yoav Y; Bergman, Richard N RN; Bergmann, Sven S; Biebermann, Heike H; Blakemore, Alexandra I F AI; Boes, Tanja T; Bonnycastle, Lori L LL; Bornstein, Stefan R SR; Brown, Morris J MJ; Buchanan, Thomas A TA; Busonero, Fabio F; Campbell, Harry H; Cappuccio, Francesco P FP; Cavalcanti-Proença, Christine C; Chen, Yii-Der Ida YD; Chen, Chih-Mei CM; Chines, Peter S PS; Clarke, Robert R; Coin, Lachlan L; Connell, John J; Day, Ian N M IN; den Heijer, Martin M; Duan, Jubao J; Ebrahim, Shah S; Elliott, Paul P; Elosua, Roberto R; Eiriksdottir, Gudny G; Erdos, Michael R MR; Eriksson, Johan G JG; Facheris, Maurizio F MF; Felix, Stephan B SB; Fischer-Posovszky, Pamela P; Folsom, Aaron R AR; Friedrich, Nele N; Freimer, Nelson B NB; Fu, Mao M; Gaget, Stefan S; Gejman, Pablo V PV; Geus, Eco J C EJ; Gieger, Christian C; Gjesing, Anette P AP; Goel, Anuj A; Goyette, Philippe P; Grallert, Harald H; Grässler, Jürgen J; Greenawalt, Danielle M DM; Groves, Christopher J CJ; Gudnason, Vilmundur V; Guiducci, Candace C; Hartikainen, Anna-Liisa AL; Hassanali, Neelam N; Hall, Alistair S AS; Havulinna, Aki S AS; Hayward, Caroline C; Heath, Andrew C AC; Hengstenberg, Christian C; Hicks, Andrew A AA; Hinney, Anke A; Hofman, Albert A; Homuth, Georg G; Hui, Jennie J; Igl, Wilmar W; Iribarren, Carlos C; Isomaa, Bo B; Jacobs, Kevin B KB; Jarick, Ivonne I; Jewell, Elizabeth E; John, Ulrich U; Jørgensen, Torben T; Jousilahti, Pekka P; Jula, Antti A; Kaakinen, Marika M; Kajantie, Eero E; Kaplan, Lee M LM; Kathiresan, Sekar S; Kettunen, Johannes J; Kinnunen, Leena L; Knowles, Joshua W JW; Kolcic, Ivana I; König, Inke R IR; Koskinen, Seppo S; Kovacs, Peter P; Kuusisto, Johanna J; Kraft, Peter P; Kvaløy, Kirsti K; Laitinen, Jaana J; Lantieri, Olivier O; Lanzani, Chiara C; Launer, Lenore J LJ; Lecoeur, Cecile C; Lehtimäki, Terho T; Lettre, Guillaume G; Liu, Jianjun J; Lokki, Marja-Liisa ML; Lorentzon, Mattias M; Luben, Robert N RN; Ludwig, Barbara B; , ; Manunta, Paolo P; Marek, Diana D; Marre, Michel M; Martin, Nicholas G NG; McArdle, Wendy L WL; McCarthy, Anne A; McKnight, Barbara B; Meitinger, Thomas T; Melander, Olle O; Meyre, David D; Midthjell, Kristian K; Montgomery, Grant W GW; Morken, Mario A MA; Morris, Andrew P AP; Mulic, Rosanda R; Ngwa, Julius S JS; Nelis, Mari M; Neville, Matt J MJ; Nyholt, Dale R DR; O'Donnell, Christopher J CJ; O'Rahilly, Stephen S; Ong, Ken K KK; Oostra, Ben B; Paré, Guillaume G; Parker, Alex N AN; Perola, Markus M; Pichler, Irene I; Pietiläinen, Kirsi H KH; Platou, Carl G P CG; Polasek, Ozren O; Pouta, Anneli A; Rafelt, Suzanne S; Raitakari, Olli O; Rayner, Nigel W NW; Ridderstråle, Martin M; Rief, Winfried W; Ruokonen, Aimo A; Robertson, Neil R NR; Rzehak, Peter P; Salomaa, Veikko V; Sanders, Alan R AR; Sandhu, Manjinder S MS; Sanna, Serena S; Saramies, Jouko J; Savolainen, Markku J MJ; Scherag, Susann S; Schipf, Sabine S; Schreiber, Stefan S; Schunkert, Heribert H; Silander, Kaisa K; Sinisalo, Juha J; Siscovick, David S DS; Smit, Jan H JH; Soranzo, Nicole N; Sovio, Ulla U; Stephens, Jonathan J; Surakka, Ida I; Swift, Amy J AJ; Tammesoo, Mari-Liis ML; Tardif, Jean-Claude JC; Teder-Laving, Maris M; Teslovich, Tanya M TM; Thompson, John R JR; Thomson, Brian B; Tönjes, Anke A; Tuomi, Tiinamaija T; van Meurs, Joyce B J JB; van Ommen, Gert-Jan GJ; Vatin, Vincent V; Viikari, Jorma J; Visvikis-Siest, Sophie S; Vitart, Veronique V; Vogel, Carla I G CI; Voight, Benjamin F BF; Waite, Lindsay L LL; Wallaschofski, Henri H; Walters, G Bragi GB; Widen, Elisabeth E; Wiegand, Susanna S; Wild, Sarah H SH; Willemsen, Gonneke G; Witte, Daniel R DR; Witteman, Jacqueline C JC; Xu, Jianfeng J; Zhang, Qunyuan Q; Zgaga, Lina L; Ziegler, Andreas A; Zitting, Paavo P; Beilby, John P JP; Farooqi, I Sadaf IS; Hebebrand, Johannes J; Huikuri, Heikki V HV; James, Alan L AL; Kähönen, Mika M; Levinson, Douglas F DF; Macciardi, Fabio F; Nieminen, Markku S MS; Ohlsson, Claes C; Palmer, Lyle J LJ; Ridker, Paul M PM; Stumvoll, Michael M; Beckmann, Jacques S JS; Boeing, Heiner H; Boerwinkle, Eric E; Boomsma, Dorret I DI; Caulfield, Mark J MJ; Chanock, Stephen J SJ; Collins, Francis S FS; Cupples, L Adrienne LA; Smith, George Davey GD; Erdmann, Jeanette J; Froguel, Philippe P; Grönberg, Henrik H; Gyllensten, Ulf U; Hall, Per P; Hansen, Torben T; Harris, Tamara B TB; Hattersley, Andrew T AT; Hayes, Richard B RB; Heinrich, Joachim J; Hu, Frank B FB; Hveem, Kristian K; Illig, Thomas T; Jarvelin, Marjo-Riitta MR; Kaprio, Jaakko J; Karpe, Fredrik F; Khaw, Kay-Tee KT; Kiemeney, Lambertus A LA; Krude, Heiko H; Laakso, Markku M; Lawlor, Debbie A DA; Metspalu, Andres A; Munroe, Patricia B PB; Ouwehand, Willem H WH; Pedersen, Oluf O; Penninx, Brenda W BW; Peters, Annette A; Pramstaller, Peter P PP; Quertermous, Thomas T; Reinehr, Thomas T; Rissanen, Aila A; Rudan, Igor I; Samani, Nilesh J NJ; Schwarz, Peter E H PE; Shuldiner, Alan R AR; Spector, Timothy D TD; Tuomilehto, Jaakko J; Uda, Manuela M; Uitterlinden, André A; Valle, Timo T TT; Wabitsch, Martin M; Waeber, Gérard G; Wareham, Nicholas J NJ; Watkins, Hugh H; , ; Wilson, James F JF; Wright, Alan F AF; Zillikens, M Carola MC; Chatterjee, Nilanjan N; McCarroll, Steven A SA; Purcell, Shaun S; Schadt, Eric E EE; Visscher, Peter M PM; Assimes, Themistocles L TL; Borecki, Ingrid B IB; Deloukas, Panos P; Fox, Caroline S CS; Groop, Leif C LC; Haritunians, Talin T; Hunter, David J DJ; Kaplan, Robert C RC; Mohlke, Karen L KL; O'Connell, Jeffrey R JR; Peltonen, Leena L; Schlessinger, David D; Strachan, David P DP; van Duijn, Cornelia M CM; Wichmann, H-Erich HE; Frayling, Timothy M TM; Thorsteinsdottir, Unnur U; Abecasis, Gonçalo R GR; Barroso, Inês I; Boehnke, Michael M; Stefansson, Kari K; North, Kari E KE; McCarthy, Mark I MI; Hirschhorn, Joel N JN; Ingelsson, Erik E; Loos, Ruth J F RJ
Publication Date: 2010-11

Variant appearance in text: rs7395581
PubMed Link: 20935630
Variant Present in the following documents:
  • NIHMS237282-supplement-1.pdf
View BVdb publication page



Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms.

American Journal Of Human Genetics
Melquist, Stacey S; Craig, David W DW; Huentelman, Matthew J MJ; Crook, Richard R; Pearson, John V JV; Baker, Matt M; Zismann, Victoria L VL; Gass, Jennifer J; Adamson, Jennifer J; Szelinger, Szabolcs S; Corneveaux, Jason J; Cannon, Ashley A; Coon, Keith D KD; Lincoln, Sarah S; Adler, Charles C; Tuite, Paul P; Calne, Donald B DB; Bigio, Eileen H EH; Uitti, Ryan J RJ; Wszolek, Zbigniew K ZK; Golbe, Lawrence I LI; Caselli, Richard J RJ; Graff-Radford, Neill N; Litvan, Irene I; Farrer, Matthew J MJ; Dickson, Dennis W DW; Hutton, Mike M; Stephan, Dietrich A DA
Publication Date: 2007-04

Variant appearance in text: rs7395581
PubMed Link: 17357082
Variant Present in the following documents:
  • Main text
View BVdb publication page