EEFSEC c.316+22560A>G

Variant ID: 3-127895226-A-G

NM_021937.3(EEFSEC):c.316+22560A>G

This variant was identified in 14 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: rs2687729
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Identifying Environmental Endocrine Disruptors Associated With the Age at Menarche by Integrating a Transcriptome-Wide Association Study With Chemical-Gene-Interaction Analysis.

Frontiers In Endocrinology
Lu, Mengnan M; Feng, Ruoyang R; Qin, Yujie Y; Deng, Hongyang H; Lian, Biyao B; Yin, Chunyan C; Xiao, Yanfeng Y
Publication Date: 2022

Variant appearance in text: rs2687729
PubMed Link: 35282430
Variant Present in the following documents:
  • Main text
  • fendo-13-836527.pdf
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Transcriptome and regulatory maps of decidua-derived stromal cells inform gene discovery in preterm birth.

Science Advances
Sakabe, Noboru J NJ; Aneas, Ivy I; Knoblauch, Nicholas N; Sobreira, Debora R DR; Clark, Nicole N; Paz, Cristina C; Horth, Cynthia C; Ziffra, Ryan R; Kaur, Harjot H; Liu, Xiao X; Anderson, Rebecca R; Morrison, Jean J; Cheung, Virginia C VC; Grotegut, Chad C; Reddy, Timothy E TE; Jacobsson, Bo B; Hallman, Mikko M; Teramo, Kari K; Murtha, Amy A; Kessler, John J; Grobman, William W; Zhang, Ge G; Muglia, Louis J LJ; Rana, Sarosh S; Lynch, Vincent J VJ; Crawford, Gregory E GE; Ober, Carole C; He, Xin X; Nóbrega, Marcelo A MA
Publication Date: 2020-12

Variant appearance in text: rs2687729
PubMed Link: 33268355
Variant Present in the following documents:
  • abc8696_SM.pdf
  • supp_6_49_eabc8696__1.pdf
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Transcriptome and regulatory maps of decidua-derived stromal cells inform gene discovery in preterm birth.

Science Advances
Sakabe, Noboru J NJ; Aneas, Ivy I; Knoblauch, Nicholas N; Sobreira, Debora R DR; Clark, Nicole N; Paz, Cristina C; Horth, Cynthia C; Ziffra, Ryan R; Kaur, Harjot H; Liu, Xiao X; Anderson, Rebecca R; Morrison, Jean J; Cheung, Virginia C VC; Grotegut, Chad C; Reddy, Timothy E TE; Jacobsson, Bo B; Hallman, Mikko M; Teramo, Kari K; Murtha, Amy A; Kessler, John J; Grobman, William W; Zhang, Ge G; Muglia, Louis J LJ; Rana, Sarosh S; Lynch, Vincent J VJ; Crawford, Gregory E GE; Ober, Carole C; He, Xin X; Nóbrega, Marcelo A MA
Publication Date: 2020-12

Variant appearance in text: rs2687729
PubMed Link: 33268355
Variant Present in the following documents:
  • abc8696_SM.pdf
  • supp_6_49_eabc8696__1.pdf
View BVdb publication page



Genomics of Reproductive Traits and Cardiometabolic Disease Risk in African American Women.

Nursing Research
Hardy, Theresa M TM; Barcelona, Veronica V; Sun, Yan V YV; Taylor, Jacquelyn Y JY
Publication Date: 2019

Variant appearance in text: rs2687729
PubMed Link: 30570522
Variant Present in the following documents:
  • Main text
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Fine-mapping of prostate cancer susceptibility loci in a large meta-analysis identifies candidate causal variants.

Nature Communications
Dadaev, Tokhir T; Saunders, Edward J EJ; Newcombe, Paul J PJ; Anokian, Ezequiel E; Leongamornlert, Daniel A DA; Brook, Mark N MN; Cieza-Borrella, Clara C; Mijuskovic, Martina M; Wakerell, Sarah S; Olama, Ali Amin Al AAA; Schumacher, Fredrick R FR; Berndt, Sonja I SI; Benlloch, Sara S; Ahmed, Mahbubl M; Goh, Chee C; Sheng, Xin X; Zhang, Zhuo Z; Muir, Kenneth K; Govindasami, Koveela K; Lophatananon, Artitaya A; Stevens, Victoria L VL; Gapstur, Susan M SM; Carter, Brian D BD; Tangen, Catherine M CM; Goodman, Phyllis P; Thompson, Ian M IM; Batra, Jyotsna J; Chambers, Suzanne S; Moya, Leire L; Clements, Judith J; Horvath, Lisa L; Tilley, Wayne W; Risbridger, Gail G; Gronberg, Henrik H; Aly, Markus M; Nordström, Tobias T; Pharoah, Paul P; Pashayan, Nora N; Schleutker, Johanna J; Tammela, Teuvo L J TLJ; Sipeky, Csilla C; Auvinen, Anssi A; Albanes, Demetrius D; Weinstein, Stephanie S; Wolk, Alicja A; Hakansson, Niclas N; West, Catharine C; Dunning, Alison M AM; Burnet, Neil N; Mucci, Lorelei L; Giovannucci, Edward E; Andriole, Gerald G; Cussenot, Olivier O; Cancel-Tassin, Géraldine G; Koutros, Stella S; Freeman, Laura E Beane LEB; Sorensen, Karina Dalsgaard KD; Orntoft, Torben Falck TF; Borre, Michael M; Maehle, Lovise L; Grindedal, Eli Marie EM; Neal, David E DE; Donovan, Jenny L JL; Hamdy, Freddie C FC; Martin, Richard M RM; Travis, Ruth C RC; Key, Tim J TJ; Hamilton, Robert J RJ; Fleshner, Neil E NE; Finelli, Antonio A; Ingles, Sue Ann SA; Stern, Mariana C MC; Rosenstein, Barry B; Kerns, Sarah S; Ostrer, Harry H; Lu, Yong-Jie YJ; Zhang, Hong-Wei HW; Feng, Ninghan N; Mao, Xueying X; Guo, Xin X; Wang, Guomin G; Sun, Zan Z; Giles, Graham G GG; Southey, Melissa C MC; MacInnis, Robert J RJ; FitzGerald, Liesel M LM; Kibel, Adam S AS; Drake, Bettina F BF; Vega, Ana A; Gómez-Caamaño, Antonio A; Fachal, Laura L; Szulkin, Robert R; Eklund, Martin M; Kogevinas, Manolis M; Llorca, Javier J; Castaño-Vinyals, Gemma G; Penney, Kathryn L KL; Stampfer, Meir M; Park, Jong Y JY; Sellers, Thomas A TA; Lin, Hui-Yi HY; Stanford, Janet L JL; Cybulski, Cezary C; Wokolorczyk, Dominika D; Lubinski, Jan J; Ostrander, Elaine A EA; Geybels, Milan S MS; Nordestgaard, Børge G BG; Nielsen, Sune F SF; Weisher, Maren M; Bisbjerg, Rasmus R; Røder, Martin Andreas MA; Iversen, Peter P; Brenner, Hermann H; Cuk, Katarina K; Holleczek, Bernd B; Maier, Christiane C; Luedeke, Manuel M; Schnoeller, Thomas T; Kim, Jeri J; Logothetis, Christopher J CJ; John, Esther M EM; Teixeira, Manuel R MR; Paulo, Paula P; Cardoso, Marta M; Neuhausen, Susan L SL; Steele, Linda L; Ding, Yuan Chun YC; De Ruyck, Kim K; De Meerleer, Gert G; Ost, Piet P; Razack, Azad A; Lim, Jasmine J; Teo, Soo-Hwang SH; Lin, Daniel W DW; Newcomb, Lisa F LF; Lessel, Davor D; Gamulin, Marija M; Kulis, Tomislav T; Kaneva, Radka R; Usmani, Nawaid N; Slavov, Chavdar C; Mitev, Vanio V; Parliament, Matthew M; Singhal, Sandeep S; Claessens, Frank F; Joniau, Steven S; Van den Broeck, Thomas T; Larkin, Samantha S; Townsend, Paul A PA; Aukim-Hastie, Claire C; Gago-Dominguez, Manuela M; Castelao, Jose Esteban JE; Martinez, Maria Elena ME; Roobol, Monique J MJ; Jenster, Guido G; van Schaik, Ron H N RHN; Menegaux, Florence F; Truong, Thérèse T; Koudou, Yves Akoli YA; Xu, Jianfeng J; Khaw, Kay-Tee KT; Cannon-Albright, Lisa L; Pandha, Hardev H; Michael, Agnieszka A; Kierzek, Andrzej A; Thibodeau, Stephen N SN; McDonnell, Shannon K SK; Schaid, Daniel J DJ; Lindstrom, Sara S; Turman, Constance C; Ma, Jing J; Hunter, David J DJ; Riboli, Elio E; Siddiq, Afshan A; Canzian, Federico F; Kolonel, Laurence N LN; Le Marchand, Loic L; Hoover, Robert N RN; Machiela, Mitchell J MJ; Kraft, Peter P; , ; Freedman, Matthew M; Wiklund, Fredrik F; Chanock, Stephen S; Henderson, Brian E BE; Easton, Douglas F DF; Haiman, Christopher A CA; Eeles, Rosalind A RA; Conti, David V DV; Kote-Jarai, Zsofia Z
Publication Date: 2018-06-11

Variant appearance in text: rs2687729
PubMed Link: 29892050
Variant Present in the following documents:
  • 41467_2018_4109_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Associations with Gestational Duration and Spontaneous Preterm Birth.

The New England Journal Of Medicine
Zhang, Ge G; Feenstra, Bjarke B; Bacelis, Jonas J; Liu, Xueping X; Muglia, Lisa M LM; Juodakis, Julius J; Miller, Daniel E DE; Litterman, Nadia N; Jiang, Pan-Pan PP; Russell, Laura L; Hinds, David A DA; Hu, Youna Y; Weirauch, Matthew T MT; Chen, Xiaoting X; Chavan, Arun R AR; Wagner, Günter P GP; Pavličev, Mihaela M; Nnamani, Mauris C MC; Maziarz, Jamie J; Karjalainen, Minna K MK; Rämet, Mika M; Sengpiel, Verena V; Geller, Frank F; Boyd, Heather A HA; Palotie, Aarno A; Momany, Allison A; Bedell, Bruce B; Ryckman, Kelli K KK; Huusko, Johanna M JM; Forney, Carmy R CR; Kottyan, Leah C LC; Hallman, Mikko M; Teramo, Kari K; Nohr, Ellen A EA; Davey Smith, George G; Melbye, Mads M; Jacobsson, Bo B; Muglia, Louis J LJ
Publication Date: 2017-09-21

Variant appearance in text: rs2687729
PubMed Link: 28877031
Variant Present in the following documents:
  • Main text
  • NEJMoa1612665-Muglia-Supplement.pdf
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Age at menarche and lung function: a Mendelian randomization study.

European Journal Of Epidemiology
Gill, Dipender D; Sheehan, Nuala A NA; Wielscher, Matthias M; Shrine, Nick N; Amaral, Andre F S AFS; Thompson, John R JR; Granell, Raquel R; Leynaert, Bénédicte B; Real, Francisco Gómez FG; Hall, Ian P IP; Tobin, Martin D MD; Auvinen, Juha J; Ring, Susan M SM; Jarvelin, Marjo-Riitta MR; Wain, Louise V LV; Henderson, John J; Jarvis, Deborah D; Minelli, Cosetta C
Publication Date: 2017-08

Variant appearance in text: rs2687729
PubMed Link: 28624884
Variant Present in the following documents:
  • 10654_2017_272_MOESM2_ESM.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: rs2687729
PubMed Link: 27182965
Variant Present in the following documents:
  • NIHMS780506-supplement-3.pdf
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The genetics of pubertal timing in the general population: recent advances and evidence for sex-specificity.

Current Opinion In Endocrinology, Diabetes, And Obesity
Cousminer, Diana L DL; Widén, Elisabeth E; Palmert, Mark R MR
Publication Date: 2016-02

Variant appearance in text: rs2687729
PubMed Link: 26574646
Variant Present in the following documents:
  • Main text
View BVdb publication page



A genome-wide pleiotropy scan for prostate cancer risk.

European Urology
Panagiotou, Orestis A OA; Travis, Ruth C RC; Campa, Daniele D; Berndt, Sonja I SI; Lindstrom, Sara S; Kraft, Peter P; Schumacher, Fredrick R FR; Siddiq, Afshan A; Papatheodorou, Stefania I SI; Stanford, Janet L JL; Albanes, Demetrius D; Virtamo, Jarmo J; Weinstein, Stephanie J SJ; Diver, W Ryan WR; Gapstur, Susan M SM; Stevens, Victoria L VL; Boeing, Heiner H; Bueno-de-Mesquita, H Bas HB; Barricarte Gurrea, Aurelio A; Kaaks, Rudolf R; Khaw, Kay-Tee KT; Krogh, Vittorio V; Overvad, Kim K; Riboli, Elio E; Trichopoulos, Dimitrios D; Giovannucci, Edward E; Stampfer, Meir M; Haiman, Christopher C; Henderson, Brian B; Le Marchand, Loic L; Gaziano, J Michael JM; Hunter, David J DJ; Koutros, Stella S; Yeager, Meredith M; Hoover, Robert N RN; , ; Chanock, Stephen J SJ; Wacholder, Sholom S; Key, Timothy J TJ; Tsilidis, Konstantinos K KK
Publication Date: 2015-04

Variant appearance in text: rs2687729
PubMed Link: 25277271
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study of age at menarche in African-American women.

Human Molecular Genetics
Demerath, Ellen W EW; Liu, Ching-Ti CT; Franceschini, Nora N; Chen, Gary G; Palmer, Julie R JR; Smith, Erin N EN; Chen, Christina T L CT; Ambrosone, Christine B CB; Arnold, Alice M AM; Bandera, Elisa V EV; Berenson, Gerald S GS; Bernstein, Leslie L; Britton, Angela A; Cappola, Anne R AR; Carlson, Christopher S CS; Chanock, Stephen J SJ; Chen, Wei W; Chen, Zhao Z; Deming, Sandra L SL; Elks, Cathy E CE; Evans, Michelle K MK; Gajdos, Zofia Z; Henderson, Brian E BE; Hu, Jennifer J JJ; Ingles, Sue S; John, Esther M EM; Kerr, Kathleen F KF; Kolonel, Laurence N LN; Le Marchand, Loic L; Lu, Xiaoning X; Millikan, Robert C RC; Musani, Solomon K SK; Nock, Nora L NL; North, Kari K; Nyante, Sarah S; Press, Michael F MF; Rodriquez-Gil, Jorge L JL; Ruiz-Narvaez, Edward A EA; Schork, Nicholas J NJ; Srinivasan, Sathanur R SR; Woods, Nancy F NF; Zheng, Wei W; Ziegler, Regina G RG; Zonderman, Alan A; Heiss, Gerardo G; Gwen Windham, B B; Wellons, Melissa M; Murray, Sarah S SS; Nalls, Michael M; Pastinen, Tomi T; Rajkovic, Aleksandar A; Hirschhorn, Joel J; Adrienne Cupples, L L; Kooperberg, Charles C; Murabito, Joanne M JM; Haiman, Christopher A CA
Publication Date: 2013-08-15

Variant appearance in text: rs2687729
PubMed Link: 23599027
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of GWAS-identified genetic variants for age at menarche among Chinese women.

Human Reproduction (Oxford, England)
Delahanty, R J RJ; Beeghly-Fadiel, A A; Long, J R JR; Gao, Y T YT; Lu, W W; Xiang, Y B YB; Zheng, Y Y; Ji, B T BT; Wen, W Q WQ; Cai, Q Y QY; Zheng, W W; Shu, X O XO
Publication Date: 2013-04

Variant appearance in text: rs2687729
PubMed Link: 23406970
Variant Present in the following documents:
  • Main text
View BVdb publication page



Replication of loci influencing ages at menarche and menopause in Hispanic women: the Women's Health Initiative SHARe Study.

Human Molecular Genetics
Chen, Christina T L CT; Fernández-Rhodes, Lindsay L; Brzyski, Robert G RG; Carlson, Christopher S CS; Chen, Zhao Z; Heiss, Gerardo G; North, Kari E KE; Woods, Nancy F NF; Rajkovic, Aleksandar A; Kooperberg, Charles C; Franceschini, Nora N
Publication Date: 2012-03-15

Variant appearance in text: rs2687729
PubMed Link: 22131368
Variant Present in the following documents:
  • Main text
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Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.

Nature Genetics
Elks, Cathy E CE; Perry, John R B JR; Sulem, Patrick P; Chasman, Daniel I DI; Franceschini, Nora N; He, Chunyan C; Lunetta, Kathryn L KL; Visser, Jenny A JA; Byrne, Enda M EM; Cousminer, Diana L DL; Gudbjartsson, Daniel F DF; Esko, Tõnu T; Feenstra, Bjarke B; Hottenga, Jouke-Jan JJ; Koller, Daniel L DL; Kutalik, Zoltán Z; Lin, Peng P; Mangino, Massimo M; Marongiu, Mara M; McArdle, Patrick F PF; Smith, Albert V AV; Stolk, Lisette L; van Wingerden, Sophie H SH; Zhao, Jing Hua JH; Albrecht, Eva E; Corre, Tanguy T; Ingelsson, Erik E; Hayward, Caroline C; Magnusson, Patrik K E PK; Smith, Erin N EN; Ulivi, Shelia S; Warrington, Nicole M NM; Zgaga, Lina L; Alavere, Helen H; Amin, Najaf N; Aspelund, Thor T; Bandinelli, Stefania S; Barroso, Inês I; Berenson, Gerald S GS; Bergmann, Sven S; Blackburn, Hannah H; Boerwinkle, Eric E; Buring, Julie E JE; Busonero, Fabio F; Campbell, Harry H; Chanock, Stephen J SJ; Chen, Wei W; Cornelis, Marilyn C MC; Couper, David D; Coviello, Andrea D AD; d'Adamo, Pio P; de Faire, Ulf U; de Geus, Eco J C EJ; Deloukas, Panos P; Döring, Angela A; Smith, George Davey GD; Easton, Douglas F DF; Eiriksdottir, Gudny G; Emilsson, Valur V; Eriksson, Johan J; Ferrucci, Luigi L; Folsom, Aaron R AR; Foroud, Tatiana T; Garcia, Melissa M; Gasparini, Paolo P; Geller, Frank F; Gieger, Christian C; , ; Gudnason, Vilmundur V; Hall, Per P; Hankinson, Susan E SE; Ferreli, Liana L; Heath, Andrew C AC; Hernandez, Dena G DG; Hofman, Albert A; Hu, Frank B FB; Illig, Thomas T; Järvelin, Marjo-Riitta MR; Johnson, Andrew D AD; Karasik, David D; Khaw, Kay-Tee KT; Kiel, Douglas P DP; Kilpeläinen, Tuomas O TO; Kolcic, Ivana I; Kraft, Peter P; Launer, Lenore J LJ; Laven, Joop S E JS; Li, Shengxu S; Liu, Jianjun J; Levy, Daniel D; Martin, Nicholas G NG; McArdle, Wendy L WL; Melbye, Mads M; Mooser, Vincent V; Murray, Jeffrey C JC; Murray, Sarah S SS; Nalls, Michael A MA; Navarro, Pau P; Nelis, Mari M; Ness, Andrew R AR; Northstone, Kate K; Oostra, Ben A BA; Peacock, Munro M; Palmer, Lyle J LJ; Palotie, Aarno A; Paré, Guillaume G; Parker, Alex N AN; Pedersen, Nancy L NL; Peltonen, Leena L; Pennell, Craig E CE; Pharoah, Paul P; Polasek, Ozren O; Plump, Andrew S AS; Pouta, Anneli A; Porcu, Eleonora E; Rafnar, Thorunn T; Rice, John P JP; Ring, Susan M SM; Rivadeneira, Fernando F; Rudan, Igor I; Sala, Cinzia C; Salomaa, Veikko V; Sanna, Serena S; Schlessinger, David D; Schork, Nicholas J NJ; Scuteri, Angelo A; Segrè, Ayellet V AV; Shuldiner, Alan R AR; Soranzo, Nicole N; Sovio, Ulla U; Srinivasan, Sathanur R SR; Strachan, David P DP; Tammesoo, Mar-Liis ML; Tikkanen, Emmi E; Toniolo, Daniela D; Tsui, Kim K; Tryggvadottir, Laufey L; Tyrer, Jonathon J; Uda, Manuela M; van Dam, Rob M RM; van Meurs, Joyce B J JB; Vollenweider, Peter P; Waeber, Gerard G; Wareham, Nicholas J NJ; Waterworth, Dawn M DM; Weedon, Michael N MN; Wichmann, H Erich HE; Willemsen, Gonneke G; Wilson, James F JF; Wright, Alan F AF; Young, Lauren L; Zhai, Guangju G; Zhuang, Wei Vivian WV; Bierut, Laura J LJ; Boomsma, Dorret I DI; Boyd, Heather A HA; Crisponi, Laura L; Demerath, Ellen W EW; van Duijn, Cornelia M CM; Econs, Michael J MJ; Harris, Tamara B TB; Hunter, David J DJ; Loos, Ruth J F RJ; Metspalu, Andres A; Montgomery, Grant W GW; Ridker, Paul M PM; Spector, Tim D TD; Streeten, Elizabeth A EA; Stefansson, Kari K; Thorsteinsdottir, Unnur U; Uitterlinden, André G AG; Widen, Elisabeth E; Murabito, Joanne M JM; Ong, Ken K KK; Murray, Anna A
Publication Date: 2010-12

Variant appearance in text: rs2687729
PubMed Link: 21102462
Variant Present in the following documents:
  • Main text
View BVdb publication page