PHLDB1 c.184+670T>C

Variant ID: 11-118486067-T-C

NM_001144758.2(PHLDB1):c.184+670T>C

This variant was identified in 13 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: rs11603023
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population.

Arthritis Research & Therapy
Tangtanatakul, Pattarin P; Thumarat, Chisanu C; Satproedprai, Nusara N; Kunhapan, Punna P; Chaiyasung, Tassamonwan T; Klinchanhom, Siriwan S; Wang, Yong-Fei YF; Wei, Wei W; Wongshinsri, Jeerapat J; Chiewchengchol, Direkrit D; Rodsaward, Pongsawat P; Ngamjanyaporn, Pintip P; Suangtamai, Thanitta T; Mahasirimongkol, Surakameth S; Pisitkun, Prapaporn P; Hirankarn, Nattiya N
Publication Date: 2020-08-08

Variant appearance in text: rs11603023
PubMed Link: 32771030
Variant Present in the following documents:
  • Main text
  • 13075_2020_Article_2276.pdf
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Understanding the genetics of systemic lupus erythematosus using Bayesian statistics and gene network analysis.

Clinical And Experimental Pediatrics
Nam, Seoung Wan SW; Lee, Kwang Seob KS; Yang, Jae Won JW; Ko, Younhee Y; Eisenhut, Michael M; Lee, Keum Hwa KH; Shin, Jae Il JI; Kronbichler, Andreas A
Publication Date: 2021-05

Variant appearance in text: rs11603023
PubMed Link: 32683804
Variant Present in the following documents:
  • Main text
  • cep-2020-00633.pdf
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Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology
Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR
Publication Date: 2020-04-01

Variant appearance in text: rs11603023
PubMed Link: 32049305
Variant Present in the following documents:
  • jamacardiol-5-390-s001.pdf
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Causal Inference for Genetically Determined Levels of High-Density Lipoprotein Cholesterol and Risk of Infectious Disease.

Arteriosclerosis, Thrombosis, And Vascular Biology
Trinder, Mark M; Walley, Keith R KR; Boyd, John H JH; Brunham, Liam R LR
Publication Date: 2020-01

Variant appearance in text: rs11603023
PubMed Link: 31694394
Variant Present in the following documents:
  • atv-40-267-s002.pdf
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Genetic Variants Associated With Plasma Lipids Are Associated With the Lipid Response to Niacin.

Journal Of The American Heart Association
Tuteja, Sony S; Qu, Liming L; Vujkovic, Marijana M; Dunbar, Richard L RL; Chen, Jinbo J; DerOhannessian, Stephanie S; Rader, Daniel J DJ
Publication Date: 2018-10-02

Variant appearance in text: rs11603023
PubMed Link: 30371334
Variant Present in the following documents:
  • JAH3-7-0e03488.pdf
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Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits.

Nature Communications
Southam, Lorraine L; Gilly, Arthur A; Süveges, Dániel D; Farmaki, Aliki-Eleni AE; Schwartzentruber, Jeremy J; Tachmazidou, Ioanna I; Matchan, Angela A; Rayner, Nigel W NW; Tsafantakis, Emmanouil E; Karaleftheri, Maria M; Xue, Yali Y; Dedoussis, George G; Zeggini, Eleftheria E
Publication Date: 2017-05-26

Variant appearance in text: rs11603023
PubMed Link: 28548082
Variant Present in the following documents:
  • ncomms15606-s1.pdf
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Several Critical Cell Types, Tissues, and Pathways Are Implicated in Genome-Wide Association Studies for Systemic Lupus Erythematosus.

G3 (Bethesda, Md.)
Liu, Lu L; Yin, Xianyong X; Wen, Leilei L; Yang, Chao C; Sheng, Yujun Y; Lin, Yan Y; Zhu, Zhengwei Z; Shen, Changbing C; Shi, Yinjuan Y; Zheng, Yajie Y; Yang, Sen S; Zhang, Xuejun X; Cui, Yong Y
Publication Date: 2016-06-01

Variant appearance in text: rs11603023
PubMed Link: 27172182
Variant Present in the following documents:
  • supp_g3.116.027326_TableS1.pdf
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Exome-wide association analysis reveals novel coding sequence variants associated with lipid traits in Chinese.

Nature Communications
Tang, Clara S CS; Zhang, He H; Cheung, Chloe Y Y CY; Xu, Ming M; Ho, Jenny C Y JC; Zhou, Wei W; Cherny, Stacey S SS; Zhang, Yan Y; Holmen, Oddgeir O; Au, Ka-Wing KW; Yu, Haiyi H; Xu, Lin L; Jia, Jia J; Porsch, Robert M RM; Sun, Lijie L; Xu, Weixian W; Zheng, Huiping H; Wong, Lai-Yung LY; Mu, Yiming Y; Dou, Jingtao J; Fong, Carol H Y CH; Wang, Shuyu S; Hong, Xueyu X; Dong, Liguang L; Liao, Yanhua Y; Wang, Jiansong J; Lam, Levina S M LS; Su, Xi X; Yan, Hua H; Yang, Min-Lee ML; Chen, Jin J; Siu, Chung-Wah CW; Xie, Gaoqiang G; Woo, Yu-Cho YC; Wu, Yangfeng Y; Tan, Kathryn C B KC; Hveem, Kristian K; Cheung, Bernard M Y BM; Zöllner, Sebastian S; Xu, Aimin A; Eugene Chen, Y Y; Jiang, Chao Qiang CQ; Zhang, Youyi Y; Lam, Tai-Hing TH; Ganesh, Santhi K SK; Huo, Yong Y; Sham, Pak C PC; Lam, Karen S L KS; Willer, Cristen J CJ; Tse, Hung-Fat HF; Gao, Wei W
Publication Date: 2015-12-22

Variant appearance in text: rs11603023
PubMed Link: 26690388
Variant Present in the following documents:
  • ncomms10206-s1.pdf
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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: rs11603023
PubMed Link: 25751400
Variant Present in the following documents:
  • ncomms7065-s1.pdf
View BVdb publication page



Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis.

Nature Communications
Benyamin, Beben B; Esko, Tonu T; Ried, Janina S JS; Radhakrishnan, Aparna A; Vermeulen, Sita H SH; Traglia, Michela M; Gögele, Martin M; Anderson, Denise D; Broer, Linda L; Podmore, Clara C; Luan, Jian'an J; Kutalik, Zoltan Z; Sanna, Serena S; van der Meer, Peter P; Tanaka, Toshiko T; Wang, Fudi F; Westra, Harm-Jan HJ; Franke, Lude L; Mihailov, Evelin E; Milani, Lili L; Hälldin, Jonas J; Häldin, Jonas J; Winkelmann, Juliane J; Meitinger, Thomas T; Thiery, Joachim J; Peters, Annette A; Waldenberger, Melanie M; Rendon, Augusto A; Jolley, Jennifer J; Sambrook, Jennifer J; Kiemeney, Lambertus A LA; Sweep, Fred C FC; Sala, Cinzia F CF; Schwienbacher, Christine C; Pichler, Irene I; Hui, Jennie J; Demirkan, Ayse A; Isaacs, Aaron A; Amin, Najaf N; Steri, Maristella M; Waeber, Gérard G; Verweij, Niek N; Powell, Joseph E JE; Nyholt, Dale R DR; Heath, Andrew C AC; Madden, Pamela A F PA; Visscher, Peter M PM; Wright, Margaret J MJ; Montgomery, Grant W GW; Martin, Nicholas G NG; Hernandez, Dena D; Bandinelli, Stefania S; van der Harst, Pim P; Uda, Manuela M; Vollenweider, Peter P; Scott, Robert A RA; Langenberg, Claudia C; Wareham, Nicholas J NJ; , ; van Duijn, Cornelia C; Beilby, John J; Pramstaller, Peter P PP; Hicks, Andrew A AA; Ouwehand, Willem H WH; Oexle, Konrad K; Gieger, Christian C; Metspalu, Andres A; Camaschella, Clara C; Toniolo, Daniela D; Swinkels, Dorine W DW; Whitfield, John B JB
Publication Date: 2014-10-29

Variant appearance in text: rs11603023
PubMed Link: 25352340
Variant Present in the following documents:
  • NIHMS619770-supplement-1.pdf
View BVdb publication page



Discovery and refinement of loci associated with lipid levels.

Nature Genetics
Willer, Cristen J CJ; Schmidt, Ellen M EM; Sengupta, Sebanti S; Peloso, Gina M GM; Gustafsson, Stefan S; Kanoni, Stavroula S; Ganna, Andrea A; Chen, Jin J; Buchkovich, Martin L ML; Mora, Samia S; Beckmann, Jacques S JS; Bragg-Gresham, Jennifer L JL; Chang, Hsing-Yi HY; Demirkan, Ayşe A; Den Hertog, Heleen M HM; Do, Ron R; Donnelly, Louise A LA; Ehret, Georg B GB; Esko, Tõnu T; Feitosa, Mary F MF; Ferreira, Teresa T; Fischer, Krista K; Fontanillas, Pierre P; Fraser, Ross M RM; Freitag, Daniel F DF; Gurdasani, Deepti D; Heikkilä, Kauko K; Hyppönen, Elina E; Isaacs, Aaron A; Jackson, Anne U AU; Johansson, Åsa Å; Johnson, Toby T; Kaakinen, Marika M; Kettunen, Johannes J; Kleber, Marcus E ME; Li, Xiaohui X; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; Magnusson, Patrik K E PKE; Mangino, Massimo M; Mihailov, Evelin E; Montasser, May E ME; Müller-Nurasyid, Martina M; Nolte, Ilja M IM; O'Connell, Jeffrey R JR; Palmer, Cameron D CD; Perola, Markus M; Petersen, Ann-Kristin AK; Sanna, Serena S; Saxena, Richa R; Service, Susan K SK; Shah, Sonia S; Shungin, Dmitry D; Sidore, Carlo C; Song, Ci C; Strawbridge, Rona J RJ; Surakka, Ida I; Tanaka, Toshiko T; Teslovich, Tanya M TM; Thorleifsson, Gudmar G; Van den Herik, Evita G EG; Voight, Benjamin F BF; Volcik, Kelly A KA; Waite, Lindsay L LL; Wong, Andrew A; Wu, Ying Y; Zhang, Weihua W; Absher, Devin D; Asiki, Gershim G; Barroso, Inês I; Been, Latonya F LF; Bolton, Jennifer L JL; Bonnycastle, Lori L LL; Brambilla, Paolo P; Burnett, Mary S MS; Cesana, Giancarlo G; Dimitriou, Maria M; Doney, Alex S F ASF; Döring, Angela A; Elliott, Paul P; Epstein, Stephen E SE; Ingi Eyjolfsson, Gudmundur G; Gigante, Bruna B; Goodarzi, Mark O MO; Grallert, Harald H; Gravito, Martha L ML; Groves, Christopher J CJ; Hallmans, Göran G; Hartikainen, Anna-Liisa AL; Hayward, Caroline C; Hernandez, Dena D; Hicks, Andrew A AA; Holm, Hilma H; Hung, Yi-Jen YJ; Illig, Thomas T; Jones, Michelle R MR; Kaleebu, Pontiano P; Kastelein, John J P JJP; Khaw, Kay-Tee KT; Kim, Eric E; Klopp, Norman N; Komulainen, Pirjo P; Kumari, Meena M; Langenberg, Claudia C; Lehtimäki, Terho T; Lin, Shih-Yi SY; Lindström, Jaana J; Loos, Ruth J F RJF; Mach, François F; McArdle, Wendy L WL; Meisinger, Christa C; Mitchell, Braxton D BD; Müller, Gabrielle G; Nagaraja, Ramaiah R; Narisu, Narisu N; Nieminen, Tuomo V M TVM; Nsubuga, Rebecca N RN; Olafsson, Isleifur I; Ong, Ken K KK; Palotie, Aarno A; Papamarkou, Theodore T; Pomilla, Cristina C; Pouta, Anneli A; Rader, Daniel J DJ; Reilly, Muredach P MP; Ridker, Paul M PM; Rivadeneira, Fernando F; Rudan, Igor I; Ruokonen, Aimo A; Samani, Nilesh N; Scharnagl, Hubert H; Seeley, Janet J; Silander, Kaisa K; Stančáková, Alena A; Stirrups, Kathleen K; Swift, Amy J AJ; Tiret, Laurence L; Uitterlinden, Andre G AG; van Pelt, L Joost LJ; Vedantam, Sailaja S; Wainwright, Nicholas N; Wijmenga, Cisca C; Wild, Sarah H SH; Willemsen, Gonneke G; Wilsgaard, Tom T; Wilson, James F JF; Young, Elizabeth H EH; Zhao, Jing Hua JH; Adair, Linda S LS; Arveiler, Dominique D; Assimes, Themistocles L TL; Bandinelli, Stefania S; Bennett, Franklyn F; Bochud, Murielle M; Boehm, Bernhard O BO; Boomsma, Dorret I DI; Borecki, Ingrid B IB; Bornstein, Stefan R SR; Bovet, Pascal P; Burnier, Michel M; Campbell, Harry H; Chakravarti, Aravinda A; Chambers, John C JC; Chen, Yii-Der Ida YI; Collins, Francis S FS; Cooper, Richard S RS; Danesh, John J; Dedoussis, George G; de Faire, Ulf U; Feranil, Alan B AB; Ferrières, Jean J; Ferrucci, Luigi L; Freimer, Nelson B NB; Gieger, Christian C; Groop, Leif C LC; Gudnason, Vilmundur V; Gyllensten, Ulf U; Hamsten, Anders A; Harris, Tamara B TB; Hingorani, Aroon A; Hirschhorn, Joel N JN; Hofman, Albert A; Hovingh, G Kees GK; Hsiung, Chao Agnes CA; Humphries, Steve E SE; Hunt, Steven C SC; Hveem, Kristian K; Iribarren, Carlos C; Järvelin, Marjo-Riitta MR; Jula, Antti A; Kähönen, Mika M; Kaprio, Jaakko J; Kesäniemi, Antero A; Kivimaki, Mika M; Kooner, Jaspal S JS; Koudstaal, Peter J PJ; Krauss, Ronald M RM; Kuh, Diana D; Kuusisto, Johanna J; Kyvik, Kirsten O KO; Laakso, Markku M; Lakka, Timo A TA; Lind, Lars L; Lindgren, Cecilia M CM; Martin, Nicholas G NG; März, Winfried W; McCarthy, Mark I MI; McKenzie, Colin A CA; Meneton, Pierre P; Metspalu, Andres A; Moilanen, Leena L; Morris, Andrew D AD; Munroe, Patricia B PB; Njølstad, Inger I; Pedersen, Nancy L NL; Power, Chris C; Pramstaller, Peter P PP; Price, Jackie F JF; Psaty, Bruce M BM; Quertermous, Thomas T; Rauramaa, Rainer R; Saleheen, Danish D; Salomaa, Veikko V; Sanghera, Dharambir K DK; Saramies, Jouko J; Schwarz, Peter E H PEH; Sheu, Wayne H-H WH; Shuldiner, Alan R AR; Siegbahn, Agneta A; Spector, Tim D TD; Stefansson, Kari K; Strachan, David P DP; Tayo, Bamidele O BO; Tremoli, Elena E; Tuomilehto, Jaakko J; Uusitupa, Matti M; van Duijn, Cornelia M CM; Vollenweider, Peter P; Wallentin, Lars L; Wareham, Nicholas J NJ; Whitfield, John B JB; Wolffenbuttel, Bruce H R BHR; Ordovas, Jose M JM; Boerwinkle, Eric E; Palmer, Colin N A CNA; Thorsteinsdottir, Unnur U; Chasman, Daniel I DI; Rotter, Jerome I JI; Franks, Paul W PW; Ripatti, Samuli S; Cupples, L Adrienne LA; Sandhu, Manjinder S MS; Rich, Stephen S SS; Boehnke, Michael M; Deloukas, Panos P; Kathiresan, Sekar S; Mohlke, Karen L KL; Ingelsson, Erik E; Abecasis, Gonçalo R GR; ,
Publication Date: 2013-11

Variant appearance in text: rs11603023
PubMed Link: 24097068
Variant Present in the following documents:
  • nihms-524703.pdf
  • NIHMS524703-supplement-1.pdf
View BVdb publication page