VCL c.1743+229C>T

Variant ID: 10-75855842-C-T

NM_014000.2(VCL):c.1743+229C>T

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs4746172
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
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Blood pressure lowering and risk of new-onset type 2 diabetes: an individual participant data meta-analysis.

Lancet (London, England)
Nazarzadeh, Milad M; Bidel, Zeinab Z; Canoy, Dexter D; Copland, Emma E; Wamil, Malgorzata M; Majert, Jeannette J; Smith Byrne, Karl K; Sundström, Johan J; Teo, Koon K; Davis, Barry R BR; Chalmers, John J; Pepine, Carl J CJ; Dehghan, Abbas A; Bennett, Derrick A DA; Smith, George Davey GD; Rahimi, Kazem K; ,
Publication Date: 2021-11-13

Variant appearance in text: rs4746172
PubMed Link: 34774144
Variant Present in the following documents:
  • mmc1.pdf
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Regional gender differences in an autosomal disease result in corresponding diversity differences.

Scientific Reports
Guan, Shenmin S; Zhao, Yingying Y; Zhuo, Xiao X; Song, Wenhui W; Geng, Xiaorui X; Yang, Huanming H; Wang, Jian J; Wu, Xinhua X; Yang, Jinlong J; Song, Xin X; Cheng, Le L
Publication Date: 2019-04-02

Variant appearance in text: rs4746172
PubMed Link: 30940865
Variant Present in the following documents:
  • 41598_2019_Article_41905.pdf
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New Blood Pressure-Associated Loci Identified in Meta-Analyses of 475 000 Individuals.

Circulation. Cardiovascular Genetics
Kraja, Aldi T AT; Cook, James P JP; Warren, Helen R HR; Surendran, Praveen P; Liu, Chunyu C; Evangelou, Evangelos E; Manning, Alisa K AK; Grarup, Niels N; Drenos, Fotios F; Sim, Xueling X; Smith, Albert Vernon AV; Amin, Najaf N; Blakemore, Alexandra I F AIF; Bork-Jensen, Jette J; Brandslund, Ivan I; Farmaki, Aliki-Eleni AE; Fava, Cristiano C; Ferreira, Teresa T; Herzig, Karl-Heinz KH; Giri, Ayush A; Giulianini, Franco F; Grove, Megan L ML; Guo, Xiuqing X; Harris, Sarah E SE; Have, Christian T CT; Havulinna, Aki S AS; Zhang, He H; Jørgensen, Marit E ME; Käräjämäki, AnneMari A; Kooperberg, Charles C; Linneberg, Allan A; Little, Louis L; Liu, Yongmei Y; Bonnycastle, Lori L LL; Lu, Yingchang Y; Mägi, Reedik R; Mahajan, Anubha A; Malerba, Giovanni G; Marioni, Riccardo E RE; Mei, Hao H; Menni, Cristina C; Morrison, Alanna C AC; Padmanabhan, Sandosh S; Palmas, Walter W; Poveda, Alaitz A; Rauramaa, Rainer R; Rayner, Nigel William NW; Riaz, Muhammad M; Rice, Ken K; Richard, Melissa A MA; Smith, Jennifer A JA; Southam, Lorraine L; Stančáková, Alena A; Stirrups, Kathleen E KE; Tragante, Vinicius V; Tuomi, Tiinamaija T; Tzoulaki, Ioanna I; Varga, Tibor V TV; Weiss, Stefan S; Yiorkas, Andrianos M AM; Young, Robin R; Zhang, Weihua W; Barnes, Michael R MR; Cabrera, Claudia P CP; Gao, He H; Boehnke, Michael M; Boerwinkle, Eric E; Chambers, John C JC; Connell, John M JM; Christensen, Cramer K CK; de Boer, Rudolf A RA; Deary, Ian J IJ; Dedoussis, George G; Deloukas, Panos P; Dominiczak, Anna F AF; Dörr, Marcus M; Joehanes, Roby R; Edwards, Todd L TL; Esko, Tõnu T; Fornage, Myriam M; Franceschini, Nora N; Franks, Paul W PW; Gambaro, Giovanni G; Groop, Leif L; Hallmans, Göran G; Hansen, Torben T; Hayward, Caroline C; Heikki, Oksa O; Ingelsson, Erik E; Tuomilehto, Jaakko J; Jarvelin, Marjo-Riitta MR; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kooner, Jaspal S JS; Lakka, Timo A TA; Langenberg, Claudia C; Lind, Lars L; Loos, Ruth J F RJF; Laakso, Markku M; McCarthy, Mark I MI; Melander, Olle O; Mohlke, Karen L KL; Morris, Andrew P AP; Palmer, Colin N A CNA; Pedersen, Oluf O; Polasek, Ozren O; Poulter, Neil R NR; Province, Michael A MA; Psaty, Bruce M BM; Ridker, Paul M PM; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Sever, Peter J PJ; Skaaby, Tea T; Stafford, Jeanette M JM; Starr, John M JM; van der Harst, Pim P; van der Meer, Peter P; , ; van Duijn, Cornelia M CM; Vergnaud, Anne-Claire AC; Gudnason, Vilmundur V; Wareham, Nicholas J NJ; Wilson, James G JG; Willer, Cristen J CJ; Witte, Daniel R DR; Zeggini, Eleftheria E; Saleheen, Danish D; Butterworth, Adam S AS; Danesh, John J; Asselbergs, Folkert W FW; Wain, Louise V LV; Ehret, Georg B GB; Chasman, Daniel I DI; Caulfield, Mark J MJ; Elliott, Paul P; Lindgren, Cecilia M CM; Levy, Daniel D; Newton-Cheh, Christopher C; Munroe, Patricia B PB; Howson, Joanna M M JMM; ,
Publication Date: 2017-10

Variant appearance in text: rs4746172
PubMed Link: 29030403
Variant Present in the following documents:
  • Main text
View BVdb publication page



Towards Precision Medicine for Hypertension: A Review of Genomic, Epigenomic, and Microbiomic Effects on Blood Pressure in Experimental Rat Models and Humans.

Physiological Reviews
Padmanabhan, Sandosh S; Joe, Bina B
Publication Date: 2017-10-01

Variant appearance in text: rs4746172
PubMed Link: 28931564
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sex-specific association of rs4746172 of VCL gene with hypertension in two Han populations from Southern China.

Scientific Reports
Yu, Qin Q; Sun, Hong-Peng HP; Chen, Wan-Qun WQ; Chen, Xiao-Qiong XQ; Xu, Yong Y; He, Yong-Han YH; Kong, Qing-Peng QP
Publication Date: 2015-10-21

Variant appearance in text: rs4746172
PubMed Link: 26487440
Variant Present in the following documents:
  • Main text
  • srep15245.pdf
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Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci.

American Journal Of Human Genetics
Tragante, Vinicius V; Barnes, Michael R MR; Ganesh, Santhi K SK; Lanktree, Matthew B MB; Guo, Wei W; Franceschini, Nora N; Smith, Erin N EN; Johnson, Toby T; Holmes, Michael V MV; Padmanabhan, Sandosh S; Karczewski, Konrad J KJ; Almoguera, Berta B; Barnard, John J; Baumert, Jens J; Chang, Yen-Pei Christy YP; Elbers, Clara C CC; Farrall, Martin M; Fischer, Mary E ME; Gaunt, Tom R TR; Gho, Johannes M I H JM; Gieger, Christian C; Goel, Anuj A; Gong, Yan Y; Isaacs, Aaron A; Kleber, Marcus E ME; Mateo Leach, Irene I; McDonough, Caitrin W CW; Meijs, Matthijs F L MF; Melander, Olle O; Nelson, Christopher P CP; Nolte, Ilja M IM; Pankratz, Nathan N; Price, Tom S TS; Shaffer, Jonathan J; Shah, Sonia S; Tomaszewski, Maciej M; van der Most, Peter J PJ; Van Iperen, Erik P A EP; Vonk, Judith M JM; Witkowska, Kate K; Wong, Caroline O L CO; Zhang, Li L; Beitelshees, Amber L AL; Berenson, Gerald S GS; Bhatt, Deepak L DL; Brown, Morris M; Burt, Amber A; Cooper-DeHoff, Rhonda M RM; Connell, John M JM; Cruickshanks, Karen J KJ; Curtis, Sean P SP; Davey-Smith, George G; Delles, Christian C; Gansevoort, Ron T RT; Guo, Xiuqing X; Haiqing, Shen S; Hastie, Claire E CE; Hofker, Marten H MH; Hovingh, G Kees GK; Kim, Daniel S DS; Kirkland, Susan A SA; Klein, Barbara E BE; Klein, Ronald R; Li, Yun R YR; Maiwald, Steffi S; Newton-Cheh, Christopher C; O'Brien, Eoin T ET; Onland-Moret, N Charlotte NC; Palmas, Walter W; Parsa, Afshin A; Penninx, Brenda W BW; Pettinger, Mary M; Vasan, Ramachandran S RS; Ranchalis, Jane E JE; M Ridker, Paul P; Rose, Lynda M LM; Sever, Peter P; Shimbo, Daichi D; Steele, Laura L; Stolk, Ronald P RP; Thorand, Barbara B; Trip, Mieke D MD; van Duijn, Cornelia M CM; Verschuren, W Monique WM; Wijmenga, Cisca C; Wyatt, Sharon S; Young, J Hunter JH; Zwinderman, Aeilko H AH; Bezzina, Connie R CR; Boerwinkle, Eric E; Casas, Juan P JP; Caulfield, Mark J MJ; Chakravarti, Aravinda A; Chasman, Daniel I DI; Davidson, Karina W KW; Doevendans, Pieter A PA; Dominiczak, Anna F AF; FitzGerald, Garret A GA; Gums, John G JG; Fornage, Myriam M; Hakonarson, Hakon H; Halder, Indrani I; Hillege, Hans L HL; Illig, Thomas T; Jarvik, Gail P GP; Johnson, Julie A JA; Kastelein, John J P JJ; Koenig, Wolfgang W; Kumari, Meena M; März, Winfried W; Murray, Sarah S SS; O'Connell, Jeffery R JR; Oldehinkel, Albertine J AJ; Pankow, James S JS; Rader, Daniel J DJ; Redline, Susan S; Reilly, Muredach P MP; Schadt, Eric E EE; Kottke-Marchant, Kandice K; Snieder, Harold H; Snyder, Michael M; Stanton, Alice V AV; Tobin, Martin D MD; Uitterlinden, André G AG; van der Harst, Pim P; van der Schouw, Yvonne T YT; Samani, Nilesh J NJ; Watkins, Hugh H; Johnson, Andrew D AD; Reiner, Alex P AP; Zhu, Xiaofeng X; de Bakker, Paul I W PI; Levy, Daniel D; Asselbergs, Folkert W FW; Munroe, Patricia B PB; Keating, Brendan J BJ
Publication Date: 2014-03-06

Variant appearance in text: rs4746172
PubMed Link: 24560520
Variant Present in the following documents:
  • Main text
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EINVis: a visualization tool for analyzing and exploring genetic interactions in large-scale association studies.

Genetic Epidemiology
Wu, Yubao Y; Zhu, Xiaofeng X; Chen, Jian J; Zhang, Xiang X
Publication Date: 2013-11

Variant appearance in text: rs4746172
PubMed Link: 23934759
Variant Present in the following documents:
  • Main text
View BVdb publication page



Polymorphisms in FGF12, VCL, CX43 and VAX1 in Brazilian patients with nonsyndromic cleft lip with or without cleft palate.

Bmc Medical Genetics
de Aquino, Sibele Nascimento SN; Messetti, Ana Camila AC; Bagordakis, Elizabete E; Martelli-Júnior, Hercílio H; Swerts, Mario Sergio Oliveira MS; Graner, Edgard E; Coletta, Ricardo D RD
Publication Date: 2013-05-16

Variant appearance in text: rs4746172
PubMed Link: 23679094
Variant Present in the following documents:
  • Main text
  • 1471-2350-14-53.pdf
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Fetal genetic risk of isolated cleft lip only versus isolated cleft lip and palate: a subphenotype analysis using two population-based studies of orofacial clefts in Scandinavia.

Birth Defects Research. Part A, Clinical And Molecular Teratology
Jugessur, Astanand A; Shi, Min M; Gjessing, Håkon Kristian HK; Lie, Rolv Terje RT; Wilcox, Allen James AJ; Weinberg, Clarice Ring CR; Christensen, Kaare K; Boyles, Abee Lowman AL; Daack-Hirsch, Sandra S; Nguyen, Truc Trung TT; Christiansen, Lene L; Lidral, Andrew Carl AC; Murray, Jeffrey Clark JC
Publication Date: 2011-02

Variant appearance in text: rs4746172
PubMed Link: 21319277
Variant Present in the following documents:
  • Main text
View BVdb publication page