LTBP2 c.2530+1081T>C

Variant ID: 14-74990746-A-G

NM_000428.2(LTBP2):c.2530+1081T>C

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry.

American Journal Of Human Genetics
Graff, Mariaelisa M; Justice, Anne E AE; Young, Kristin L KL; Marouli, Eirini E; Zhang, Xinruo X; Fine, Rebecca S RS; Lim, Elise E; Buchanan, Victoria V; Rand, Kristin K; Feitosa, Mary F MF; Wojczynski, Mary K MK; Yanek, Lisa R LR; Shao, Yaming Y; Rohde, Rebecca R; Adeyemo, Adebowale A AA; Aldrich, Melinda C MC; Allison, Matthew A MA; Ambrosone, Christine B CB; Ambs, Stefan S; Amos, Christopher C; Arnett, Donna K DK; Atwood, Larry L; Bandera, Elisa V EV; Bartz, Traci T; Becker, Diane M DM; Berndt, Sonja I SI; Bernstein, Leslie L; Bielak, Lawrence F LF; Blot, William J WJ; Bottinger, Erwin P EP; Bowden, Donald W DW; Bradfield, Jonathan P JP; Brody, Jennifer A JA; Broeckel, Ulrich U; Burke, Gregory G; Cade, Brian E BE; Cai, Qiuyin Q; Caporaso, Neil N; Carlson, Chris C; Carpten, John J; Casey, Graham G; Chanock, Stephen J SJ; Chen, Guanjie G; Chen, Minhui M; Chen, Yii-Der I YI; Chen, Wei-Min WM; Chesi, Alessandra A; Chiang, Charleston W K CWK; Chu, Lisa L; Coetzee, Gerry A GA; Conti, David V DV; Cooper, Richard S RS; Cushman, Mary M; Demerath, Ellen E; Deming, Sandra L SL; Dimitrov, Latchezar L; Ding, Jingzhong J; Diver, W Ryan WR; Duan, Qing Q; Evans, Michele K MK; Falusi, Adeyinka G AG; Faul, Jessica D JD; Fornage, Myriam M; Fox, Caroline C; Freedman, Barry I BI; Garcia, Melissa M; Gillanders, Elizabeth M EM; Goodman, Phyllis P; Gottesman, Omri O; Grant, Struan F A SFA; Guo, Xiuqing X; Hakonarson, Hakon H; Haritunians, Talin T; Harris, Tamara B TB; Harris, Curtis C CC; Henderson, Brian E BE; Hennis, Anselm A; Hernandez, Dena G DG; Hirschhorn, Joel N JN; McNeill, Lorna Haughton LH; Howard, Timothy D TD; Howard, Barbara B; Hsing, Ann W AW; Hsu, Yu-Han H YH; Hu, Jennifer J JJ; Huff, Chad D CD; Huo, Dezheng D; Ingles, Sue A SA; Irvin, Marguerite R MR; John, Esther M EM; Johnson, Karen C KC; Jordan, Joanne M JM; Kabagambe, Edmond K EK; Kang, Sun J SJ; Kardia, Sharon L SL; Keating, Brendan J BJ; Kittles, Rick A RA; Klein, Eric A EA; Kolb, Suzanne S; Kolonel, Laurence N LN; Kooperberg, Charles C; Kuller, Lewis L; Kutlar, Abdullah A; Lange, Leslie L; Langefeld, Carl D CD; Le Marchand, Loic L; Leonard, Hampton H; Lettre, Guillaume G; Levin, Albert M AM; Li, Yun Y; Li, Jin J; Liu, Yongmei Y; Liu, Youfang Y; Liu, Simin S; Lohman, Kurt K; Lotay, Vaneet V; Lu, Yingchang Y; Maixner, William W; Manson, JoAnn E JE; McKnight, Barbara B; Meng, Yan Y; Monda, Keri L KL; Monroe, Kris K; Moore, Jason H JH; Mosley, Thomas H TH; Mudgal, Poorva P; Murphy, Adam B AB; Nadukuru, Rajiv R; Nalls, Mike A MA; Nathanson, Katherine L KL; Nayak, Uma U; N'Diaye, Amidou A; Nemesure, Barbara B; Neslund-Dudas, Christine C; Neuhouser, Marian L ML; Nyante, Sarah S; Ochs-Balcom, Heather H; Ogundiran, Temidayo O TO; Ogunniyi, Adesola A; Ojengbede, Oladosu O; Okut, Hayrettin H; Olopade, Olufunmilayo I OI; Olshan, Andrew A; Padhukasahasram, Badri B; Palmer, Julie J; Palmer, Cameron D CD; Palmer, Nicholette D ND; Papanicolaou, George G; Patel, Sanjay R SR; Pettaway, Curtis A CA; Peyser, Patricia A PA; Press, Michael F MF; Rao, D C DC; Rasmussen-Torvik, Laura J LJ; Redline, Susan S; Reiner, Alex P AP; Rhie, Suhn K SK; Rodriguez-Gil, Jorge L JL; Rotimi, Charles N CN; Rotter, Jerome I JI; Ruiz-Narvaez, Edward A EA; Rybicki, Benjamin A BA; Salako, Babatunde B; Sale, Michele M MM; Sanderson, Maureen M; Schadt, Eric E; Schreiner, Pamela J PJ; Schurmann, Claudia C; Schwartz, Ann G AG; Shriner, Daniel A DA; Signorello, Lisa B LB; Singleton, Andrew B AB; Siscovick, David S DS; Smith, Jennifer A JA; Smith, Shad S; Speliotes, Elizabeth E; Spitz, Margaret M; Stanford, Janet L JL; Stevens, Victoria L VL; Stram, Alex A; Strom, Sara S SS; Sucheston, Lara L; Sun, Yan V YV; Tajuddin, Salman M SM; Taylor, Herman H; Taylor, Kira K; Tayo, Bamidele O BO; Thun, Michael J MJ; Tucker, Margaret A MA; Vaidya, Dhananjay D; Van Den Berg, David J DJ; Vedantam, Sailaja S; Vitolins, Mara M; Wang, Zhaoming Z; Ware, Erin B EB; Wassertheil-Smoller, Sylvia S; Weir, David R DR; Wiencke, John K JK; Williams, Scott M SM; Williams, L Keoki LK; Wilson, James G JG; Witte, John S JS; Wrensch, Margaret M; Wu, Xifeng X; Yao, Jie J; Zakai, Neil N; Zanetti, Krista K; Zemel, Babette S BS; Zhao, Wei W; Zhao, Jing Hua JH; Zheng, Wei W; Zhi, Degui D; Zhou, Jie J; Zhu, Xiaofeng X; Ziegler, Regina G RG; Zmuda, Joe J; Zonderman, Alan B AB; Psaty, Bruce M BM; Borecki, Ingrid B IB; Cupples, L Adrienne LA; Liu, Ching-Ti CT; Haiman, Christopher A CA; Loos, Ruth R; Ng, Maggie C Y MCY; North, Kari E KE
Publication Date: 2021-04-01

Variant appearance in text: rs862034
PubMed Link: 33713608
Variant Present in the following documents:
  • Main text
View BVdb publication page



TAGOOS: genome-wide supervised learning of non-coding loci associated to complex phenotypes.

Nucleic Acids Research
González, Aitor A; Artufel, Marie M; Rihet, Pascal P
Publication Date: 2019-08-22

Variant appearance in text: rs862034
PubMed Link: 31045203
Variant Present in the following documents:
  • Main text
  • gkz320.pdf
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Genetic regulation of linear growth.

Annals Of Pediatric Endocrinology & Metabolism
Yue, Shanna S; Whalen, Philip P; Jee, Youn Hee YH
Publication Date: 2019-03

Variant appearance in text: rs862034
PubMed Link: 30943674
Variant Present in the following documents:
  • Main text
  • apem-2019-24-1-2.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: rs862034
PubMed Link: 26956984
Variant Present in the following documents:
  • tyrj029564.ww1_default.pdf
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A novel common variant in DCST2 is associated with length in early life and height in adulthood.

Human Molecular Genetics
van der Valk, Ralf J P RJ; Kreiner-Møller, Eskil E; Kooijman, Marjolein N MN; Guxens, Mònica M; Stergiakouli, Evangelia E; Sääf, Annika A; Bradfield, Jonathan P JP; Geller, Frank F; Hayes, M Geoffrey MG; Cousminer, Diana L DL; Körner, Antje A; Thiering, Elisabeth E; Curtin, John A JA; Myhre, Ronny R; Huikari, Ville V; Joro, Raimo R; Kerkhof, Marjan M; Warrington, Nicole M NM; Pitkänen, Niina N; Ntalla, Ioanna I; Horikoshi, Momoko M; Veijola, Riitta R; Freathy, Rachel M RM; Teo, Yik-Ying YY; Barton, Sheila J SJ; Evans, David M DM; Kemp, John P JP; St Pourcain, Beate B; Ring, Susan M SM; Davey Smith, George G; Bergström, Anna A; Kull, Inger I; Hakonarson, Hakon H; Mentch, Frank D FD; Bisgaard, Hans H; Chawes, Bo B; Stokholm, Jakob J; Waage, Johannes J; Eriksen, Patrick P; Sevelsted, Astrid A; Melbye, Mads M; , ; van Duijn, Cornelia M CM; Medina-Gomez, Carolina C; Hofman, Albert A; de Jongste, Johan C JC; Taal, H Rob HR; Uitterlinden, André G AG; , ; Armstrong, Loren L LL; Eriksson, Johan J; Palotie, Aarno A; Bustamante, Mariona M; Estivill, Xavier X; Gonzalez, Juan R JR; Llop, Sabrina S; Kiess, Wieland W; Mahajan, Anubha A; Flexeder, Claudia C; Tiesler, Carla M T CM; Murray, Clare S CS; Simpson, Angela A; Magnus, Per P; Sengpiel, Verena V; Hartikainen, Anna-Liisa AL; Keinanen-Kiukaanniemi, Sirkka S; Lewin, Alexandra A; Da Silva Couto Alves, Alexessander A; Blakemore, Alexandra I AI; Buxton, Jessica L JL; Kaakinen, Marika M; Rodriguez, Alina A; Sebert, Sylvain S; Vaarasmaki, Marja M; Lakka, Timo T; Lindi, Virpi V; Gehring, Ulrike U; Postma, Dirkje S DS; Ang, Wei W; Newnham, John P JP; Lyytikäinen, Leo-Pekka LP; Pahkala, Katja K; Raitakari, Olli T OT; Panoutsopoulou, Kalliope K; Zeggini, Eleftheria E; Boomsma, Dorret I DI; Groen-Blokhuis, Maria M; Ilonen, Jorma J; Franke, Lude L; Hirschhorn, Joel N JN; Pers, Tune H TH; Liang, Liming L; Huang, Jinyan J; Hocher, Berthold B; Knip, Mikael M; Saw, Seang-Mei SM; Holloway, John W JW; Melén, Erik E; Grant, Struan F A SF; Feenstra, Bjarke B; Lowe, William L WL; Widén, Elisabeth E; Sergeyev, Elena E; Grallert, Harald H; Custovic, Adnan A; Jacobsson, Bo B; Jarvelin, Marjo-Riitta MR; Atalay, Mustafa M; Koppelman, Gerard H GH; Pennell, Craig E CE; Niinikoski, Harri H; Dedoussis, George V GV; Mccarthy, Mark I MI; Frayling, Timothy M TM; Sunyer, Jordi J; Timpson, Nicholas J NJ; Rivadeneira, Fernando F; Bønnelykke, Klaus K; Jaddoe, Vincent W V VW; ,
Publication Date: 2015-02-15

Variant appearance in text: rs862034
PubMed Link: 25281659
Variant Present in the following documents:
  • supp_ddu510_ddu510supp.pdf
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Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry.

Plos Genetics
N'Diaye, Amidou A; Chen, Gary K GK; Palmer, Cameron D CD; Ge, Bing B; Tayo, Bamidele B; Mathias, Rasika A RA; Ding, Jingzhong J; Nalls, Michael A MA; Adeyemo, Adebowale A; Adoue, Véronique V; Ambrosone, Christine B CB; Atwood, Larry L; Bandera, Elisa V EV; Becker, Lewis C LC; Berndt, Sonja I SI; Bernstein, Leslie L; Blot, William J WJ; Boerwinkle, Eric E; Britton, Angela A; Casey, Graham G; Chanock, Stephen J SJ; Demerath, Ellen E; Deming, Sandra L SL; Diver, W Ryan WR; Fox, Caroline C; Harris, Tamara B TB; Hernandez, Dena G DG; Hu, Jennifer J JJ; Ingles, Sue A SA; John, Esther M EM; Johnson, Craig C; Keating, Brendan B; Kittles, Rick A RA; Kolonel, Laurence N LN; Kritchevsky, Stephen B SB; Le Marchand, Loic L; Lohman, Kurt K; Liu, Jiankang J; Millikan, Robert C RC; Murphy, Adam A; Musani, Solomon S; Neslund-Dudas, Christine C; North, Kari E KE; Nyante, Sarah S; Ogunniyi, Adesola A; Ostrander, Elaine A EA; Papanicolaou, George G; Patel, Sanjay S; Pettaway, Curtis A CA; Press, Michael F MF; Redline, Susan S; Rodriguez-Gil, Jorge L JL; Rotimi, Charles C; Rybicki, Benjamin A BA; Salako, Babatunde B; Schreiner, Pamela J PJ; Signorello, Lisa B LB; Singleton, Andrew B AB; Stanford, Janet L JL; Stram, Alex H AH; Stram, Daniel O DO; Strom, Sara S SS; Suktitipat, Bhoom B; Thun, Michael J MJ; Witte, John S JS; Yanek, Lisa R LR; Ziegler, Regina G RG; Zheng, Wei W; Zhu, Xiaofeng X; Zmuda, Joseph M JM; Zonderman, Alan B AB; Evans, Michele K MK; Liu, Yongmei Y; Becker, Diane M DM; Cooper, Richard S RS; Pastinen, Tomi T; Henderson, Brian E BE; Hirschhorn, Joel N JN; Lettre, Guillaume G; Haiman, Christopher A CA
Publication Date: 2011-10

Variant appearance in text: rs862034
PubMed Link: 21998595
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

Nature Genetics
Soler Artigas, María M; Loth, Daan W DW; Wain, Louise V LV; Gharib, Sina A SA; Obeidat, Ma'en M; Tang, Wenbo W; Zhai, Guangju G; Zhao, Jing Hua JH; Smith, Albert Vernon AV; Huffman, Jennifer E JE; Albrecht, Eva E; Jackson, Catherine M CM; Evans, David M DM; Cadby, Gemma G; Fornage, Myriam M; Manichaikul, Ani A; Lopez, Lorna M LM; Johnson, Toby T; Aldrich, Melinda C MC; Aspelund, Thor T; Barroso, Inês I; Campbell, Harry H; Cassano, Patricia A PA; Couper, David J DJ; Eiriksdottir, Gudny G; Franceschini, Nora N; Garcia, Melissa M; Gieger, Christian C; Gislason, Gauti Kjartan GK; Grkovic, Ivica I; Hammond, Christopher J CJ; Hancock, Dana B DB; Harris, Tamara B TB; Ramasamy, Adaikalavan A; Heckbert, Susan R SR; Heliövaara, Markku M; Homuth, Georg G; Hysi, Pirro G PG; James, Alan L AL; Jankovic, Stipan S; Joubert, Bonnie R BR; Karrasch, Stefan S; Klopp, Norman N; Koch, Beate B; Kritchevsky, Stephen B SB; Launer, Lenore J LJ; Liu, Yongmei Y; Loehr, Laura R LR; Lohman, Kurt K; Loos, Ruth J F RJ; Lumley, Thomas T; Al Balushi, Khalid A KA; Ang, Wei Q WQ; Barr, R Graham RG; Beilby, John J; Blakey, John D JD; Boban, Mladen M; Boraska, Vesna V; Brisman, Jonas J; Britton, John R JR; Brusselle, Guy G GG; Cooper, Cyrus C; Curjuric, Ivan I; Dahgam, Santosh S; Deary, Ian J IJ; Ebrahim, Shah S; Eijgelsheim, Mark M; Francks, Clyde C; Gaysina, Darya D; Granell, Raquel R; Gu, Xiangjun X; Hankinson, John L JL; Hardy, Rebecca R; Harris, Sarah E SE; Henderson, John J; Henry, Amanda A; Hingorani, Aroon D AD; Hofman, Albert A; Holt, Patrick G PG; Hui, Jennie J; Hunter, Michael L ML; Imboden, Medea M; Jameson, Karen A KA; Kerr, Shona M SM; Kolcic, Ivana I; Kronenberg, Florian F; Liu, Jason Z JZ; Marchini, Jonathan J; McKeever, Tricia T; Morris, Andrew D AD; Olin, Anna-Carin AC; Porteous, David J DJ; Postma, Dirkje S DS; Rich, Stephen S SS; Ring, Susan M SM; Rivadeneira, Fernando F; Rochat, Thierry T; Sayer, Avan Aihie AA; Sayers, Ian I; Sly, Peter D PD; Smith, George Davey GD; Sood, Akshay A; Starr, John M JM; Uitterlinden, André G AG; Vonk, Judith M JM; Wannamethee, S Goya SG; Whincup, Peter H PH; Wijmenga, Cisca C; Williams, O Dale OD; Wong, Andrew A; Mangino, Massimo M; Marciante, Kristin D KD; McArdle, Wendy L WL; Meibohm, Bernd B; Morrison, Alanna C AC; North, Kari E KE; Omenaas, Ernst E; Palmer, Lyle J LJ; Pietiläinen, Kirsi H KH; Pin, Isabelle I; Pola Sbreve Ek, Ozren O; Pouta, Anneli A; Psaty, Bruce M BM; Hartikainen, Anna-Liisa AL; Rantanen, Taina T; Ripatti, Samuli S; Rotter, Jerome I JI; Rudan, Igor I; Rudnicka, Alicja R AR; Schulz, Holger H; Shin, So-Youn SY; Spector, Tim D TD; Surakka, Ida I; Vitart, Veronique V; Völzke, Henry H; Wareham, Nicholas J NJ; Warrington, Nicole M NM; Wichmann, H-Erich HE; Wild, Sarah H SH; Wilk, Jemma B JB; Wjst, Matthias M; Wright, Alan F AF; Zgaga, Lina L; Zemunik, Tatijana T; Pennell, Craig E CE; Nyberg, Fredrik F; Kuh, Diana D; Holloway, John W JW; Boezen, H Marike HM; Lawlor, Debbie A DA; Morris, Richard W RW; Probst-Hensch, Nicole N; , ; , ; Kaprio, Jaakko J; Wilson, James F JF; Hayward, Caroline C; Kähönen, Mika M; Heinrich, Joachim J; Musk, Arthur W AW; Jarvis, Deborah L DL; Gläser, Sven S; Järvelin, Marjo-Riitta MR; Ch Stricker, Bruno H BH; Elliott, Paul P; O'Connor, George T GT; Strachan, David P DP; London, Stephanie J SJ; Hall, Ian P IP; Gudnason, Vilmundur V; Tobin, Martin D MD
Publication Date: 2011-09-25

Variant appearance in text: rs862034
PubMed Link: 21946350
Variant Present in the following documents:
  • NIHMS335195-supplement-4.pdf
View BVdb publication page