PGS1 c.143+2593T>G

Variant ID: 17-76377482-T-G

NM_024419.3(PGS1):c.143+2593T>G

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: PGS1: 143+2593T>G
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
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Genome of The Netherlands population-specific imputations identify an ABCA6 variant associated with cholesterol levels.

Nature Communications
van Leeuwen, Elisabeth M EM; Karssen, Lennart C LC; Deelen, Joris J; Isaacs, Aaron A; Medina-Gomez, Carolina C; Mbarek, Hamdi H; Kanterakis, Alexandros A; Trompet, Stella S; Postmus, Iris I; Verweij, Niek N; van Enckevort, David J DJ; Huffman, Jennifer E JE; White, Charles C CC; Feitosa, Mary F MF; Bartz, Traci M TM; Manichaikul, Ani A; Joshi, Peter K PK; Peloso, Gina M GM; Deelen, Patrick P; van Dijk, Freerk F; Willemsen, Gonneke G; de Geus, Eco J EJ; Milaneschi, Yuri Y; Penninx, Brenda W J H BW; Francioli, Laurent C LC; Menelaou, Androniki A; Pulit, Sara L SL; Rivadeneira, Fernando F; Hofman, Albert A; Oostra, Ben A BA; Franco, Oscar H OH; Mateo Leach, Irene I; Beekman, Marian M; de Craen, Anton J M AJ; Uh, Hae-Won HW; Trochet, Holly H; Hocking, Lynne J LJ; Porteous, David J DJ; Sattar, Naveed N; Packard, Chris J CJ; Buckley, Brendan M BM; Brody, Jennifer A JA; Bis, Joshua C JC; Rotter, Jerome I JI; Mychaleckyj, Josyf C JC; Campbell, Harry H; Duan, Qing Q; Lange, Leslie A LA; Wilson, James F JF; Hayward, Caroline C; Polasek, Ozren O; Vitart, Veronique V; Rudan, Igor I; Wright, Alan F AF; Rich, Stephen S SS; Psaty, Bruce M BM; Borecki, Ingrid B IB; Kearney, Patricia M PM; Stott, David J DJ; Adrienne Cupples, L L; , ; Jukema, J Wouter JW; van der Harst, Pim P; Sijbrands, Eric J EJ; Hottenga, Jouke-Jan JJ; Uitterlinden, Andre G AG; Swertz, Morris A MA; van Ommen, Gert-Jan B GJ; de Bakker, Paul I W PI; Eline Slagboom, P P; Boomsma, Dorret I DI; Wijmenga, Cisca C; van Duijn, Cornelia M CM
Publication Date: 2015-03-09

Variant appearance in text: rs4082919
PubMed Link: 25751400
Variant Present in the following documents:
  • ncomms7065-s1.pdf
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LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Journal Of Lipid Research
Johansen, Christopher T CT; Dubé, Joseph B JB; Loyzer, Melissa N MN; MacDonald, Austin A; Carter, David E DE; McIntyre, Adam D AD; Cao, Henian H; Wang, Jian J; Robinson, John F JF; Hegele, Robert A RA
Publication Date: 2014-04

Variant appearance in text: rs4082919
PubMed Link: 24503134
Variant Present in the following documents:
  • supp_D045963_jlr.D045963-1.pdf
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Do genetic modifiers of high-density lipoprotein cholesterol and triglyceride levels also modify their response to a lifestyle intervention in the setting of obesity and type-2 diabetes mellitus?: The Action for Health in Diabetes (Look AHEAD) study.

Circulation. Cardiovascular Genetics
Huggins, Gordon S GS; Papandonatos, George D GD; Erar, Bahar B; Belalcazar, L Maria LM; Brautbar, Ariel A; Ballantyne, Christie C; Kitabchi, Abbas E AE; Wagenknecht, Lynne E LE; Knowler, William C WC; Pownall, Henry J HJ; Wing, Rena R RR; Peter, Inga I; McCaffery, Jeanne M JM; ,
Publication Date: 2013-08

Variant appearance in text: rs4082919
PubMed Link: 23861364
Variant Present in the following documents:
  • Main text
View BVdb publication page



Impact of HDL genetic risk scores on coronary artery calcified plaque and mortality in individuals with type 2 diabetes from the Diabetes Heart Study.

Cardiovascular Diabetology
Raffield, Laura M LM; Cox, Amanda J AJ; Hsu, Fang-Chi FC; Ng, Maggie C-Y MC; Langefeld, Carl D CD; Carr, J Jeffrey JJ; Freedman, Barry I BI; Bowden, Donald W DW
Publication Date: 2013-06-25

Variant appearance in text: rs4082919
PubMed Link: 23799899
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

American Journal Of Human Genetics
Asselbergs, Folkert W FW; Guo, Yiran Y; van Iperen, Erik P A EP; Sivapalaratnam, Suthesh S; Tragante, Vinicius V; Lanktree, Matthew B MB; Lange, Leslie A LA; Almoguera, Berta B; Appelman, Yolande E YE; Barnard, John J; Baumert, Jens J; Beitelshees, Amber L AL; Bhangale, Tushar R TR; Chen, Yii-Der Ida YD; Gaunt, Tom R TR; Gong, Yan Y; Hopewell, Jemma C JC; Johnson, Toby T; Kleber, Marcus E ME; Langaee, Taimour Y TY; Li, Mingyao M; Li, Yun R YR; Liu, Kiang K; McDonough, Caitrin W CW; Meijs, Matthijs F L MF; Middelberg, Rita P S RP; Musunuru, Kiran K; Nelson, Christopher P CP; O'Connell, Jeffery R JR; Padmanabhan, Sandosh S; Pankow, James S JS; Pankratz, Nathan N; Rafelt, Suzanne S; Rajagopalan, Ramakrishnan R; Romaine, Simon P R SP; Schork, Nicholas J NJ; Shaffer, Jonathan J; Shen, Haiqing H; Smith, Erin N EN; Tischfield, Sam E SE; van der Most, Peter J PJ; van Vliet-Ostaptchouk, Jana V JV; Verweij, Niek N; Volcik, Kelly A KA; Zhang, Li L; Bailey, Kent R KR; Bailey, Kristian M KM; Bauer, Florianne F; Boer, Jolanda M A JM; Braund, Peter S PS; Burt, Amber A; Burton, Paul R PR; Buxbaum, Sarah G SG; Chen, Wei W; Cooper-Dehoff, Rhonda M RM; Cupples, L Adrienne LA; deJong, Jonas S JS; Delles, Christian C; Duggan, David D; Fornage, Myriam M; Furlong, Clement E CE; Glazer, Nicole N; Gums, John G JG; Hastie, Claire C; Holmes, Michael V MV; Illig, Thomas T; Kirkland, Susan A SA; Kivimaki, Mika M; Klein, Ronald R; Klein, Barbara E BE; Kooperberg, Charles C; Kottke-Marchant, Kandice K; Kumari, Meena M; LaCroix, Andrea Z AZ; Mallela, Laya L; Murugesan, Gurunathan G; Ordovas, Jose J; Ouwehand, Willem H WH; Post, Wendy S WS; Saxena, Richa R; Scharnagl, Hubert H; Schreiner, Pamela J PJ; Shah, Tina T; Shields, Denis C DC; Shimbo, Daichi D; Srinivasan, Sathanur R SR; Stolk, Ronald P RP; Swerdlow, Daniel I DI; Taylor, Herman A HA; Topol, Eric J EJ; Toskala, Elina E; van Pelt, Joost L JL; van Setten, Jessica J; Yusuf, Salim S; Whittaker, John C JC; Zwinderman, A H AH; , ; Anand, Sonia S SS; Balmforth, Anthony J AJ; Berenson, Gerald S GS; Bezzina, Connie R CR; Boehm, Bernhard O BO; Boerwinkle, Eric E; Casas, Juan P JP; Caulfield, Mark J MJ; Clarke, Robert R; Connell, John M JM; Cruickshanks, Karen J KJ; Davidson, Karina W KW; Day, Ian N M IN; de Bakker, Paul I W PI; Doevendans, Pieter A PA; Dominiczak, Anna F AF; Hall, Alistair S AS; Hartman, Catharina A CA; Hengstenberg, Christian C; Hillege, Hans L HL; Hofker, Marten H MH; Humphries, Steve E SE; Jarvik, Gail P GP; Johnson, Julie A JA; Kaess, Bernhard M BM; Kathiresan, Sekar S; Koenig, Wolfgang W; Lawlor, Debbie A DA; März, Winfried W; Melander, Olle O; Mitchell, Braxton D BD; Montgomery, Grant W GW; Munroe, Patricia B PB; Murray, Sarah S SS; Newhouse, Stephen J SJ; Onland-Moret, N Charlotte NC; Poulter, Neil N; Psaty, Bruce B; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Schunkert, Heribert H; Sever, Peter P; Shuldiner, Alan R AR; Silverstein, Roy L RL; Stanton, Alice A; Thorand, Barbara B; Trip, Mieke D MD; Tsai, Michael Y MY; van der Harst, Pim P; van der Schoot, Ellen E; van der Schouw, Yvonne T YT; Verschuren, W M Monique WM; Watkins, Hugh H; Wilde, Arthur A M AA; Wolffenbuttel, Bruce H R BH; Whitfield, John B JB; Hovingh, G Kees GK; Ballantyne, Christie M CM; Wijmenga, Cisca C; Reilly, Muredach P MP; Martin, Nicholas G NG; Wilson, James G JG; Rader, Daniel J DJ; Samani, Nilesh J NJ; Reiner, Alex P AP; Hegele, Robert A RA; Kastelein, John J P JJ; Hingorani, Aroon D AD; Talmud, Philippa J PJ; Hakonarson, Hakon H; Elbers, Clara C CC; Keating, Brendan J BJ; Drenos, Fotios F
Publication Date: 2012-11-02

Variant appearance in text: rs4082919
PubMed Link: 23063622
Variant Present in the following documents:
  • Main text
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Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction.

Plos One
Lucas, Gavin G; Lluís-Ganella, Carla C; Subirana, Isaac I; Musameh, Muntaser D MD; Gonzalez, Juan Ramon JR; Nelson, Christopher P CP; Sentí, Mariano M; , ; , ; Schwartz, Stephen M SM; Siscovick, David D; O'Donnell, Christopher J CJ; Melander, Olle O; Salomaa, Veikko V; Purcell, Shaun S; Altshuler, David D; Samani, Nilesh J NJ; Kathiresan, Sekar S; Elosua, Roberto R
Publication Date: 2012

Variant appearance in text: rs4082919
PubMed Link: 22876292
Variant Present in the following documents:
  • pone.0041730.s001.pdf
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Biological, clinical and population relevance of 95 loci for blood lipids.

Nature
Teslovich, Tanya M TM; Musunuru, Kiran K; Smith, Albert V AV; Edmondson, Andrew C AC; Stylianou, Ioannis M IM; Koseki, Masahiro M; Pirruccello, James P JP; Ripatti, Samuli S; Chasman, Daniel I DI; Willer, Cristen J CJ; Johansen, Christopher T CT; Fouchier, Sigrid W SW; Isaacs, Aaron A; Peloso, Gina M GM; Barbalic, Maja M; Ricketts, Sally L SL; Bis, Joshua C JC; Aulchenko, Yurii S YS; Thorleifsson, Gudmar G; Feitosa, Mary F MF; Chambers, John J; Orho-Melander, Marju M; Melander, Olle O; Johnson, Toby T; Li, Xiaohui X; Guo, Xiuqing X; Li, Mingyao M; Shin Cho, Yoon Y; Jin Go, Min M; Jin Kim, Young Y; Lee, Jong-Young JY; Park, Taesung T; Kim, Kyunga K; Sim, Xueling X; Twee-Hee Ong, Rick R; Croteau-Chonka, Damien C DC; Lange, Leslie A LA; Smith, Joshua D JD; Song, Kijoung K; Hua Zhao, Jing J; Yuan, Xin X; Luan, Jian'an J; Lamina, Claudia C; Ziegler, Andreas A; Zhang, Weihua W; Zee, Robert Y L RY; Wright, Alan F AF; Witteman, Jacqueline C M JC; Wilson, James F JF; Willemsen, Gonneke G; Wichmann, H-Erich HE; Whitfield, John B JB; Waterworth, Dawn M DM; Wareham, Nicholas J NJ; Waeber, Gérard G; Vollenweider, Peter P; Voight, Benjamin F BF; Vitart, Veronique V; Uitterlinden, Andre G AG; Uda, Manuela M; Tuomilehto, Jaakko J; Thompson, John R JR; Tanaka, Toshiko T; Surakka, Ida I; Stringham, Heather M HM; Spector, Tim D TD; Soranzo, Nicole N; Smit, Johannes H JH; Sinisalo, Juha J; Silander, Kaisa K; Sijbrands, Eric J G EJ; Scuteri, Angelo A; Scott, James J; Schlessinger, David D; Sanna, Serena S; Salomaa, Veikko V; Saharinen, Juha J; Sabatti, Chiara C; Ruokonen, Aimo A; Rudan, Igor I; Rose, Lynda M LM; Roberts, Robert R; Rieder, Mark M; Psaty, Bruce M BM; Pramstaller, Peter P PP; Pichler, Irene I; Perola, Markus M; Penninx, Brenda W J H BW; Pedersen, Nancy L NL; Pattaro, Cristian C; Parker, Alex N AN; Pare, Guillaume G; Oostra, Ben A BA; O'Donnell, Christopher J CJ; Nieminen, Markku S MS; Nickerson, Deborah A DA; Montgomery, Grant W GW; Meitinger, Thomas T; McPherson, Ruth R; McCarthy, Mark I MI; McArdle, Wendy W; Masson, David D; Martin, Nicholas G NG; Marroni, Fabio F; Mangino, Massimo M; Magnusson, Patrik K E PK; Lucas, Gavin G; Luben, Robert R; Loos, Ruth J F RJ; Lokki, Marja-Liisa ML; Lettre, Guillaume G; Langenberg, Claudia C; Launer, Lenore J LJ; Lakatta, Edward G EG; Laaksonen, Reijo R; Kyvik, Kirsten O KO; Kronenberg, Florian F; König, Inke R IR; Khaw, Kay-Tee KT; Kaprio, Jaakko J; Kaplan, Lee M LM; Johansson, Asa A; Jarvelin, Marjo-Riitta MR; Janssens, A Cecile J W AC; Ingelsson, Erik E; Igl, Wilmar W; Kees Hovingh, G G; Hottenga, Jouke-Jan JJ; Hofman, Albert A; Hicks, Andrew A AA; Hengstenberg, Christian C; Heid, Iris M IM; Hayward, Caroline C; Havulinna, Aki S AS; Hastie, Nicholas D ND; Harris, Tamara B TB; Haritunians, Talin T; Hall, Alistair S AS; Gyllensten, Ulf U; Guiducci, Candace C; Groop, Leif C LC; Gonzalez, Elena E; Gieger, Christian C; Freimer, Nelson B NB; Ferrucci, Luigi L; Erdmann, Jeanette J; Elliott, Paul P; Ejebe, Kenechi G KG; Döring, Angela A; Dominiczak, Anna F AF; Demissie, Serkalem S; Deloukas, Panagiotis P; de Geus, Eco J C EJ; de Faire, Ulf U; Crawford, Gabriel G; Collins, Francis S FS; Chen, Yii-der I YD; Caulfield, Mark J MJ; Campbell, Harry H; Burtt, Noel P NP; Bonnycastle, Lori L LL; Boomsma, Dorret I DI; Boekholdt, S Matthijs SM; Bergman, Richard N RN; Barroso, Inês I; Bandinelli, Stefania S; Ballantyne, Christie M CM; Assimes, Themistocles L TL; Quertermous, Thomas T; Altshuler, David D; Seielstad, Mark M; Wong, Tien Y TY; Tai, E-Shyong ES; Feranil, Alan B AB; Kuzawa, Christopher W CW; Adair, Linda S LS; Taylor, Herman A HA; Borecki, Ingrid B IB; Gabriel, Stacey B SB; Wilson, James G JG; Holm, Hilma H; Thorsteinsdottir, Unnur U; Gudnason, Vilmundur V; Krauss, Ronald M RM; Mohlke, Karen L KL; Ordovas, Jose M JM; Munroe, Patricia B PB; Kooner, Jaspal S JS; Tall, Alan R AR; Hegele, Robert A RA; Kastelein, John J P JJ; Schadt, Eric E EE; Rotter, Jerome I JI; Boerwinkle, Eric E; Strachan, David P DP; Mooser, Vincent V; Stefansson, Kari K; Reilly, Muredach P MP; Samani, Nilesh J NJ; Schunkert, Heribert H; Cupples, L Adrienne LA; Sandhu, Manjinder S MS; Ridker, Paul M PM; Rader, Daniel J DJ; van Duijn, Cornelia M CM; Peltonen, Leena L; Abecasis, Gonçalo R GR; Boehnke, Michael M; Kathiresan, Sekar S
Publication Date: 2010-08-05

Variant appearance in text: rs4082919
PubMed Link: 20686565
Variant Present in the following documents:
  • NIHMS213289-supplement-1.pdf
View BVdb publication page