DOT1L c.82-4309G>A

Variant ID: 19-2176403-G-A

NM_032482.2(DOT1L):c.82-4309G>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Genetics of osteoarthritis.

Osteoarthritis And Cartilage
Aubourg, G G; Rice, S J SJ; Bruce-Wootton, P P; Loughlin, J J
Publication Date: 2022-05

Variant appearance in text: rs11880992
PubMed Link: 33722698
Variant Present in the following documents:
  • Main text
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Comparative transcriptome analysis identifies CARM1 and DNMT3A as genes associated with osteoporosis.

Scientific Reports
Panach, Layla L; Pertusa, Clara C; Martínez-Rojas, Beatriz B; Acebrón, Álvaro Á; Mifsut, Damián D; Tarín, Juan J JJ; Cano, Antonio A; García-Pérez, Miguel Ángel MÁ
Publication Date: 2020-10-01

Variant appearance in text: rs11880992
PubMed Link: 33004909
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_72870.pdf
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Genetic analyses of diverse populations improves discovery for complex traits.

Nature
Wojcik, Genevieve L GL; Graff, Mariaelisa M; Nishimura, Katherine K KK; Tao, Ran R; Haessler, Jeffrey J; Gignoux, Christopher R CR; Highland, Heather M HM; Patel, Yesha M YM; Sorokin, Elena P EP; Avery, Christy L CL; Belbin, Gillian M GM; Bien, Stephanie A SA; Cheng, Iona I; Cullina, Sinead S; Hodonsky, Chani J CJ; Hu, Yao Y; Huckins, Laura M LM; Jeff, Janina J; Justice, Anne E AE; Kocarnik, Jonathan M JM; Lim, Unhee U; Lin, Bridget M BM; Lu, Yingchang Y; Nelson, Sarah C SC; Park, Sung-Shim L SL; Poisner, Hannah H; Preuss, Michael H MH; Richard, Melissa A MA; Schurmann, Claudia C; Setiawan, Veronica W VW; Sockell, Alexandra A; Vahi, Karan K; Verbanck, Marie M; Vishnu, Abhishek A; Walker, Ryan W RW; Young, Kristin L KL; Zubair, Niha N; Acuña-Alonso, Victor V; Ambite, Jose Luis JL; Barnes, Kathleen C KC; Boerwinkle, Eric E; Bottinger, Erwin P EP; Bustamante, Carlos D CD; Caberto, Christian C; Canizales-Quinteros, Samuel S; Conomos, Matthew P MP; Deelman, Ewa E; Do, Ron R; Doheny, Kimberly K; Fernández-Rhodes, Lindsay L; Fornage, Myriam M; Hailu, Benyam B; Heiss, Gerardo G; Henn, Brenna M BM; Hindorff, Lucia A LA; Jackson, Rebecca D RD; Laurie, Cecelia A CA; Laurie, Cathy C CC; Li, Yuqing Y; Lin, Dan-Yu DY; Moreno-Estrada, Andres A; Nadkarni, Girish G; Norman, Paul J PJ; Pooler, Loreall C LC; Reiner, Alexander P AP; Romm, Jane J; Sabatti, Chiara C; Sandoval, Karla K; Sheng, Xin X; Stahl, Eli A EA; Stram, Daniel O DO; Thornton, Timothy A TA; Wassel, Christina L CL; Wilkens, Lynne R LR; Winkler, Cheryl A CA; Yoneyama, Sachi S; Buyske, Steven S; Haiman, Christopher A CA; Kooperberg, Charles C; Le Marchand, Loic L; Loos, Ruth J F RJF; Matise, Tara C TC; North, Kari E KE; Peters, Ulrike U; Kenny, Eimear E EE; Carlson, Christopher S CS
Publication Date: 2019-06

Variant appearance in text: rs11880992
PubMed Link: 31217584
Variant Present in the following documents:
  • Main text
View BVdb publication page



Height and Body Mass Index as Modifiers of Breast Cancer Risk in BRCA1/2 Mutation Carriers: A Mendelian Randomization Study.

Journal Of The National Cancer Institute
Qian, Frank F; Wang, Shengfeng S; Mitchell, Jonathan J; McGuffog, Lesley L; Barrowdale, Daniel D; Leslie, Goska G; Oosterwijk, Jan C JC; Chung, Wendy K WK; Evans, D Gareth DG; Engel, Christoph C; Kast, Karin K; Aalfs, Cora M CM; Adank, Muriel A MA; Adlard, Julian J; Agnarsson, Bjarni A BA; Aittomäki, Kristiina K; Alducci, Elisa E; Andrulis, Irene L IL; Arun, Banu K BK; Ausems, Margreet G E M MGEM; Azzollini, Jacopo J; Barouk-Simonet, Emmanuelle E; Barwell, Julian J; Belotti, Muriel M; Benitez, Javier J; Berger, Andreas A; Borg, Ake A; Bradbury, Angela R AR; Brunet, Joan J; Buys, Saundra S SS; Caldes, Trinidad T; Caligo, Maria A MA; Campbell, Ian I; Caputo, Sandrine M SM; Chiquette, Jocelyne J; Claes, Kathleen B M KBM; Margriet Collée, J J; Couch, Fergus J FJ; Coupier, Isabelle I; Daly, Mary B MB; Davidson, Rosemarie R; Diez, Orland O; Domchek, Susan M SM; Donaldson, Alan A; Dorfling, Cecilia M CM; Eeles, Ros R; Feliubadaló, Lidia L; Foretova, Lenka L; Fowler, Jeffrey J; Friedman, Eitan E; Frost, Debra D; Ganz, Patricia A PA; Garber, Judy J; Garcia-Barberan, Vanesa V; Glendon, Gord G; Godwin, Andrew K AK; Gómez Garcia, Encarna B EB; Gronwald, Jacek J; Hahnen, Eric E; Hamann, Ute U; Henderson, Alex A; Hendricks, Carolyn B CB; Hopper, John L JL; Hulick, Peter J PJ; Imyanitov, Evgeny N EN; Isaacs, Claudine C; Izatt, Louise L; Izquierdo, Ángel Á; Jakubowska, Anna A; Kaczmarek, Katarzyna K; Kang, Eunyoung E; Karlan, Beth Y BY; Kets, Carolien M CM; Kim, Sung-Won SW; Kim, Zisun Z; Kwong, Ava A; Laitman, Yael Y; Lasset, Christine C; Hyuk Lee, Min M; Won Lee, Jong J; Lee, Jihyoun J; Lester, Jenny J; Lesueur, Fabienne F; Loud, Jennifer T JT; Lubinski, Jan J; Mebirouk, Noura N; Meijers-Heijboer, Hanne E J HEJ; Meindl, Alfons A; Miller, Austin A; Montagna, Marco M; Mooij, Thea M TM; Morrison, Patrick J PJ; Mouret-Fourme, Emmanuelle E; Nathanson, Katherine L KL; Neuhausen, Susan L SL; Nevanlinna, Heli H; Niederacher, Dieter D; Nielsen, Finn C FC; Nussbaum, Robert L RL; Offit, Kenneth K; Olah, Edith E; Ong, Kai-Ren KR; Ottini, Laura L; Park, Sue K SK; Peterlongo, Paolo P; Pfeiler, Georg G; Phelan, Catherine M CM; Poppe, Bruce B; Pradhan, Nisha N; Radice, Paolo P; Ramus, Susan J SJ; Rantala, Johanna J; Robson, Mark M; Rodriguez, Gustavo C GC; Schmutzler, Rita K RK; Hutten Selkirk, Christina G CG; Shah, Payal D PD; Simard, Jacques J; Singer, Christian F CF; Sokolowska, Johanna J; Stoppa-Lyonnet, Dominique D; Sutter, Christian C; Yen Tan, Yen Y; Teixeira, R Manuel RM; Teo, Soo H SH; Terry, Mary Beth MB; Thomassen, Mads M; Tischkowitz, Marc M; Toland, Amanda E AE; Tucker, Katherine M KM; Tung, Nadine N; van Asperen, Christi J CJ; van Engelen, Klaartje K; van Rensburg, Elizabeth J EJ; Wang-Gohrke, Shan S; Wappenschmidt, Barbara B; Weitzel, Jeffrey N JN; Yannoukakos, Drakoulis D; , ; , ; , ; Greene, Mark H MH; Rookus, Matti A MA; Easton, Douglas F DF; Chenevix-Trench, Georgia G; Antoniou, Antonis C AC; Goldgar, David E DE; Olopade, Olufunmilayo I OI; Rebbeck, Timothy R TR; Huo, Dezheng D
Publication Date: 2019-04-01

Variant appearance in text: rs11880992
PubMed Link: 30312457
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture.

Plos One
Kim, Stuart K SK
Publication Date: 2018

Variant appearance in text: rs11880992
PubMed Link: 30048462
Variant Present in the following documents:
  • pone.0200785.s003.xlsx, sheet 1
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Pathways to understanding the genomic aetiology of osteoarthritis.

Human Molecular Genetics
Cibrián Uhalte, Elena E; Wilkinson, Jeremy Mark JM; Southam, Lorraine L; Zeggini, Eleftheria E
Publication Date: 2017-10-01

Variant appearance in text: rs11880992
PubMed Link: 28977450
Variant Present in the following documents:
  • Main text
  • ddx302.pdf
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Novel Genetic Variants for Cartilage Thickness and Hip Osteoarthritis.

Plos Genetics
Castaño-Betancourt, Martha C MC; Evans, Dan S DS; Ramos, Yolande F M YF; Boer, Cindy G CG; Metrustry, Sarah S; Liu, Youfang Y; den Hollander, Wouter W; van Rooij, Jeroen J; Kraus, Virginia B VB; Yau, Michelle S MS; Mitchell, Braxton D BD; Muir, Kenneth K; Hofman, Albert A; Doherty, Michael M; Doherty, Sally S; Zhang, Weiya W; Kraaij, Robert R; Rivadeneira, Fernando F; Barrett-Connor, Elizabeth E; Maciewicz, Rose A RA; Arden, Nigel N; Nelissen, Rob G H H RG; Kloppenburg, Margreet M; Jordan, Joanne M JM; Nevitt, Michael C MC; Slagboom, Eline P EP; Hart, Deborah J DJ; Lafeber, Floris F; Styrkarsdottir, Unnur U; Zeggini, Eleftheria E; Evangelou, Evangelos E; Spector, Tim D TD; Uitterlinden, Andre G AG; Lane, Nancy E NE; Meulenbelt, Ingrid I; Valdes, Ana M AM; van Meurs, Joyce B J JB
Publication Date: 2016-10

Variant appearance in text: rs11880992
PubMed Link: 27701424
Variant Present in the following documents:
  • Main text
  • pgen.1006260.pdf
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Height, body mass index, and socioeconomic status: mendelian randomisation study in UK Biobank.

Bmj (Clinical Research Ed.)
Tyrrell, Jessica J; Jones, Samuel E SE; Beaumont, Robin R; Astley, Christina M CM; Lovell, Rebecca R; Yaghootkar, Hanieh H; Tuke, Marcus M; Ruth, Katherine S KS; Freathy, Rachel M RM; Hirschhorn, Joel N JN; Wood, Andrew R AR; Murray, Anna A; Weedon, Michael N MN; Frayling, Timothy M TM
Publication Date: 2016-03-08

Variant appearance in text: rs11880992
PubMed Link: 26956984
Variant Present in the following documents:
  • tyrj029564.ww1_default.pdf
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Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.

Nature Genetics
Berndt, Sonja I SI; Gustafsson, Stefan S; Mägi, Reedik R; Ganna, Andrea A; Wheeler, Eleanor E; Feitosa, Mary F MF; Justice, Anne E AE; Monda, Keri L KL; Croteau-Chonka, Damien C DC; Day, Felix R FR; Esko, Tõnu T; Fall, Tove T; Ferreira, Teresa T; Gentilini, Davide D; Jackson, Anne U AU; Luan, Jian'an J; Randall, Joshua C JC; Vedantam, Sailaja S; Willer, Cristen J CJ; Winkler, Thomas W TW; Wood, Andrew R AR; Workalemahu, Tsegaselassie T; Hu, Yi-Juan YJ; Lee, Sang Hong SH; Liang, Liming L; Lin, Dan-Yu DY; Min, Josine L JL; Neale, Benjamin M BM; Thorleifsson, Gudmar G; Yang, Jian J; Albrecht, Eva E; Amin, Najaf N; Bragg-Gresham, Jennifer L JL; Cadby, Gemma G; den Heijer, Martin M; Eklund, Niina N; Fischer, Krista K; Goel, Anuj A; Hottenga, Jouke-Jan JJ; Huffman, Jennifer E JE; Jarick, Ivonne I; Johansson, Åsa Å; Johnson, Toby T; Kanoni, Stavroula S; Kleber, Marcus E ME; König, Inke R IR; Kristiansson, Kati K; Kutalik, Zoltán Z; Lamina, Claudia C; Lecoeur, Cecile C; Li, Guo G; Mangino, Massimo M; McArdle, Wendy L WL; Medina-Gomez, Carolina C; Müller-Nurasyid, Martina M; Ngwa, Julius S JS; Nolte, Ilja M IM; Paternoster, Lavinia L; Pechlivanis, Sonali S; Perola, Markus M; Peters, Marjolein J MJ; Preuss, Michael M; Rose, Lynda M LM; Shi, Jianxin J; Shungin, Dmitry D; Smith, Albert Vernon AV; Strawbridge, Rona J RJ; Surakka, Ida I; Teumer, Alexander A; Trip, Mieke D MD; Tyrer, Jonathan J; Van Vliet-Ostaptchouk, Jana V JV; Vandenput, Liesbeth L; Waite, Lindsay L LL; Zhao, Jing Hua JH; Absher, Devin D; Asselbergs, Folkert W FW; Atalay, Mustafa M; Attwood, Antony P AP; Balmforth, Anthony J AJ; Basart, Hanneke H; Beilby, John J; Bonnycastle, Lori L LL; Brambilla, Paolo P; Bruinenberg, Marcel M; Campbell, Harry H; Chasman, Daniel I DI; Chines, Peter S PS; Collins, Francis S FS; Connell, John M JM; Cookson, William O WO; de Faire, Ulf U; de Vegt, Femmie F; Dei, Mariano M; Dimitriou, Maria M; Edkins, Sarah S; Estrada, Karol K; Evans, David M DM; Farrall, Martin M; Ferrario, Marco M MM; Ferrières, Jean J; Franke, Lude L; Frau, Francesca F; Gejman, Pablo V PV; Grallert, Harald H; Grönberg, Henrik H; Gudnason, Vilmundur V; Hall, Alistair S AS; Hall, Per P; Hartikainen, Anna-Liisa AL; Hayward, Caroline C; Heard-Costa, Nancy L NL; Heath, Andrew C AC; Hebebrand, Johannes J; Homuth, Georg G; Hu, Frank B FB; Hunt, Sarah E SE; Hyppönen, Elina E; Iribarren, Carlos C; Jacobs, Kevin B KB; Jansson, John-Olov JO; Jula, Antti A; Kähönen, Mika M; Kathiresan, Sekar S; Kee, Frank F; Khaw, Kay-Tee KT; Kivimäki, Mika M; Koenig, Wolfgang W; Kraja, Aldi T AT; Kumari, Meena M; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laitinen, Jaana H JH; Lakka, Timo A TA; Langenberg, Claudia C; Launer, Lenore J LJ; Lind, Lars L; Lindström, Jaana J; Liu, Jianjun J; Liuzzi, Antonio A; Lokki, Marja-Liisa ML; Lorentzon, Mattias M; Madden, Pamela A PA; Magnusson, Patrik K PK; Manunta, Paolo P; Marek, Diana D; März, Winfried W; Mateo Leach, Irene I; McKnight, Barbara B; Medland, Sarah E SE; Mihailov, Evelin E; Milani, Lili L; Montgomery, Grant W GW; Mooser, Vincent V; Mühleisen, Thomas W TW; Munroe, Patricia B PB; Musk, Arthur W AW; Narisu, Narisu N; Navis, Gerjan G; Nicholson, George G; Nohr, Ellen A EA; Ong, Ken K KK; Oostra, Ben A BA; Palmer, Colin N A CN; Palotie, Aarno A; Peden, John F JF; Pedersen, Nancy N; Peters, Annette A; Polasek, Ozren O; Pouta, Anneli A; Pramstaller, Peter P PP; Prokopenko, Inga I; Pütter, Carolin C; Radhakrishnan, Aparna A; Raitakari, Olli O; Rendon, Augusto A; Rivadeneira, Fernando F; Rudan, Igor I; Saaristo, Timo E TE; Sambrook, Jennifer G JG; Sanders, Alan R AR; Sanna, Serena S; Saramies, Jouko J; Schipf, Sabine S; Schreiber, Stefan S; Schunkert, Heribert H; Shin, So-Youn SY; Signorini, Stefano S; Sinisalo, Juha J; Skrobek, Boris B; Soranzo, Nicole N; Stančáková, Alena A; Stark, Klaus K; Stephens, Jonathan C JC; Stirrups, Kathleen K; Stolk, Ronald P RP; Stumvoll, Michael M; Swift, Amy J AJ; Theodoraki, Eirini V EV; Thorand, Barbara B; Tregouet, David-Alexandre DA; Tremoli, Elena E; Van der Klauw, Melanie M MM; van Meurs, Joyce B J JB; Vermeulen, Sita H SH; Viikari, Jorma J; Virtamo, Jarmo J; Vitart, Veronique V; Waeber, Gérard G; Wang, Zhaoming Z; Widén, Elisabeth E; Wild, Sarah H SH; Willemsen, Gonneke G; Winkelmann, Bernhard R BR; Witteman, Jacqueline C M JC; Wolffenbuttel, Bruce H R BH; Wong, Andrew A; Wright, Alan F AF; Zillikens, M Carola MC; Amouyel, Philippe P; Boehm, Bernhard O BO; Boerwinkle, Eric E; Boomsma, Dorret I DI; Caulfield, Mark J MJ; Chanock, Stephen J SJ; Cupples, L Adrienne LA; Cusi, Daniele D; Dedoussis, George V GV; Erdmann, Jeanette J; Eriksson, Johan G JG; Franks, Paul W PW; Froguel, Philippe P; Gieger, Christian C; Gyllensten, Ulf U; Hamsten, Anders A; Harris, Tamara B TB; Hengstenberg, Christian C; Hicks, Andrew A AA; Hingorani, Aroon A; Hinney, Anke A; Hofman, Albert A; Hovingh, Kees G KG; Hveem, Kristian K; Illig, Thomas T; Jarvelin, Marjo-Riitta MR; Jöckel, Karl-Heinz KH; Keinanen-Kiukaanniemi, Sirkka M SM; Kiemeney, Lambertus A LA; Kuh, Diana D; Laakso, Markku M; Lehtimäki, Terho T; Levinson, Douglas F DF; Martin, Nicholas G NG; Metspalu, Andres A; Morris, Andrew D AD; Nieminen, Markku S MS; Njølstad, Inger I; Ohlsson, Claes C; Oldehinkel, Albertine J AJ; Ouwehand, Willem H WH; Palmer, Lyle J LJ; Penninx, Brenda B; Power, Chris C; Province, Michael A MA; Psaty, Bruce M BM; Qi, Lu L; Rauramaa, Rainer R; Ridker, Paul M PM; Ripatti, Samuli S; Salomaa, Veikko V; Samani, Nilesh J NJ; Snieder, Harold H; Sørensen, Thorkild I A TI; Spector, Timothy D TD; Stefansson, Kari K; Tönjes, Anke A; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van der Harst, Pim P; Vollenweider, Peter P; Wallaschofski, Henri H; Wareham, Nicholas J NJ; Watkins, Hugh H; Wichmann, H-Erich HE; Wilson, James F JF; Abecasis, Goncalo R GR; Assimes, Themistocles L TL; Barroso, Inês I; Boehnke, Michael M; Borecki, Ingrid B IB; Deloukas, Panos P; Fox, Caroline S CS; Frayling, Timothy T; Groop, Leif C LC; Haritunian, Talin T; Heid, Iris M IM; Hunter, David D; Kaplan, Robert C RC; Karpe, Fredrik F; Moffatt, Miriam F MF; Mohlke, Karen L KL; O'Connell, Jeffrey R JR; Pawitan, Yudi Y; Schadt, Eric E EE; Schlessinger, David D; Steinthorsdottir, Valgerdur V; Strachan, David P DP; Thorsteinsdottir, Unnur U; van Duijn, Cornelia M CM; Visscher, Peter M PM; Di Blasio, Anna Maria AM; Hirschhorn, Joel N JN; Lindgren, Cecilia M CM; Morris, Andrew P AP; Meyre, David D; Scherag, André A; McCarthy, Mark I MI; Speliotes, Elizabeth K EK; North, Kari E KE; Loos, Ruth J F RJ; Ingelsson, Erik E
Publication Date: 2013-05

Variant appearance in text: rs11880992
PubMed Link: 23563607
Variant Present in the following documents:
  • NIHMS536922-supplement-1.pdf
View BVdb publication page