BMP4 c.370+160C>T

Variant ID: 14-54418411-G-A

NM_001202.3(BMP4):c.370+160C>T

This variant was identified in 17 publications

View GRCh38 version.




Publications:


XVII Meeting of the Academy AIPMB and I National Congress SPPMB. December 2-3, 2022. Proceedings and Abstract.

Medicina Oral, Patologia Oral Y Cirugia Bucal
Publication Date: 2023-04-11

Variant appearance in text: rs2071047
PubMed Link: 37039280
Variant Present in the following documents:
  • medoral-28-S1.pdf
View BVdb publication page



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: rs2071047
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



Effects of Genetic Variation on Endurance Performance, Muscle Strength, and Injury Susceptibility in Sports: A Systematic Review.

Frontiers In Physiology
Appel, Milena M; Zentgraf, Karen K; Krüger, Karsten K; Alack, Katharina K
Publication Date: 2021

Variant appearance in text: rs2071047
PubMed Link: 34366884
Variant Present in the following documents:
  • Main text
  • fphys-12-694411.pdf
View BVdb publication page



MicroRNA-374a, -4680, and -133b suppress cell proliferation through the regulation of genes associated with human cleft palate in cultured human palate cells.

Bmc Medical Genomics
Suzuki, Akiko A; Li, Aimin A; Gajera, Mona M; Abdallah, Nada N; Zhang, Musi M; Zhao, Zhongming Z; Iwata, Junichi J
Publication Date: 2019-07-01

Variant appearance in text: rs2071047
PubMed Link: 31262291
Variant Present in the following documents:
  • 12920_2019_546_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integrated Functional Genomic Analysis Enables Annotation of Kidney Genome-Wide Association Study Loci.

Journal Of The American Society Of Nephrology : Jasn
Sieber, Karsten B KB; Batorsky, Anna A; Siebenthall, Kyle K; Hudkins, Kelly L KL; Vierstra, Jeff D JD; Sullivan, Shawn S; Sur, Aakash A; McNulty, Michelle M; Sandstrom, Richard R; Reynolds, Alex A; Bates, Daniel D; Diegel, Morgan M; Dunn, Douglass D; Nelson, Jemma J; Buckley, Michael M; Kaul, Rajinder R; Sampson, Matthew G MG; Himmelfarb, Jonathan J; Alpers, Charles E CE; Waterworth, Dawn D; Akilesh, Shreeram S
Publication Date: 2019-02-13

Variant appearance in text: rs2071047
PubMed Link: 30760496
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: BMP4: 370+160C>T; rs2071047
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Molecular pathogenesis of fracture nonunion.

Journal Of Orthopaedic Translation
Ding, Zi-Chuan ZC; Lin, Yi-Kai YK; Gan, Yao-Kai YK; Tang, Ting-Ting TT
Publication Date: 2018-07

Variant appearance in text: rs2071047
PubMed Link: 30035032
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



DeFine: deep convolutional neural networks accurately quantify intensities of transcription factor-DNA binding and facilitate evaluation of functional non-coding variants.

Nucleic Acids Research
Wang, Meng M; Tai, Cheng C; E, Weinan W; Wei, Liping L
Publication Date: 2018-06-20

Variant appearance in text: rs2071047
PubMed Link: 29617928
Variant Present in the following documents:
  • gky215_supplemental_files.pdf
View BVdb publication page



Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.

Plos One
Du, Mengmeng M; Jiao, Shuo S; Bien, Stephanie A SA; Gala, Manish M; Abecasis, Goncalo G; Bezieau, Stephane S; Brenner, Hermann H; Butterbach, Katja K; Caan, Bette J BJ; Carlson, Christopher S CS; Casey, Graham G; Chang-Claude, Jenny J; Conti, David V DV; Curtis, Keith R KR; Duggan, David D; Gallinger, Steven S; Haile, Robert W RW; Harrison, Tabitha A TA; Hayes, Richard B RB; Hoffmeister, Michael M; Hopper, John L JL; Hudson, Thomas J TJ; Jenkins, Mark A MA; Küry, Sébastien S; Le Marchand, Loic L; Leal, Suzanne M SM; Newcomb, Polly A PA; Nickerson, Deborah A DA; Potter, John D JD; Schoen, Robert E RE; Schumacher, Fredrick R FR; Seminara, Daniela D; Slattery, Martha L ML; Hsu, Li L; Chan, Andrew T AT; White, Emily E; Berndt, Sonja I SI; Peters, Ulrike U
Publication Date: 2016

Variant appearance in text: rs2071047
PubMed Link: 27379672
Variant Present in the following documents:
  • Main text
  • pone.0157521.pdf
View BVdb publication page



Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

Nature Communications
Pattaro, Cristian C; Teumer, Alexander A; Gorski, Mathias M; Chu, Audrey Y AY; Li, Man M; Mijatovic, Vladan V; Garnaas, Maija M; Tin, Adrienne A; Sorice, Rossella R; Li, Yong Y; Taliun, Daniel D; Olden, Matthias M; Foster, Meredith M; Yang, Qiong Q; Chen, Ming-Huei MH; Pers, Tune H TH; Johnson, Andrew D AD; Ko, Yi-An YA; Fuchsberger, Christian C; Tayo, Bamidele B; Nalls, Michael M; Feitosa, Mary F MF; Isaacs, Aaron A; Dehghan, Abbas A; d'Adamo, Pio P; Adeyemo, Adebowale A; Dieffenbach, Aida Karina AK; Zonderman, Alan B AB; Nolte, Ilja M IM; van der Most, Peter J PJ; Wright, Alan F AF; Shuldiner, Alan R AR; Morrison, Alanna C AC; Hofman, Albert A; Smith, Albert V AV; Dreisbach, Albert W AW; Franke, Andre A; Uitterlinden, Andre G AG; Metspalu, Andres A; Tonjes, Anke A; Lupo, Antonio A; Robino, Antonietta A; Johansson, Åsa Å; Demirkan, Ayse A; Kollerits, Barbara B; Freedman, Barry I BI; Ponte, Belen B; Oostra, Ben A BA; Paulweber, Bernhard B; Krämer, Bernhard K BK; Mitchell, Braxton D BD; Buckley, Brendan M BM; Peralta, Carmen A CA; Hayward, Caroline C; Helmer, Catherine C; Rotimi, Charles N CN; Shaffer, Christian M CM; Müller, Christian C; Sala, Cinzia C; van Duijn, Cornelia M CM; Saint-Pierre, Aude A; Ackermann, Daniel D; Shriner, Daniel D; Ruggiero, Daniela D; Toniolo, Daniela D; Lu, Yingchang Y; Cusi, Daniele D; Czamara, Darina D; Ellinghaus, David D; Siscovick, David S DS; Ruderfer, Douglas D; Gieger, Christian C; Grallert, Harald H; Rochtchina, Elena E; Atkinson, Elizabeth J EJ; Holliday, Elizabeth G EG; Boerwinkle, Eric E; Salvi, Erika E; Bottinger, Erwin P EP; Murgia, Federico F; Rivadeneira, Fernando F; Ernst, Florian F; Kronenberg, Florian F; Hu, Frank B FB; Navis, Gerjan J GJ; Curhan, Gary C GC; Ehret, George B GB; Homuth, Georg G; Coassin, Stefan S; Thun, Gian-Andri GA; Pistis, Giorgio G; Gambaro, Giovanni G; Malerba, Giovanni G; Montgomery, Grant W GW; Eiriksdottir, Gudny G; Jacobs, Gunnar G; Li, Guo G; Wichmann, H-Erich HE; Campbell, Harry H; Schmidt, Helena H; Wallaschofski, Henri H; Völzke, Henry H; Brenner, Hermann H; Kroemer, Heyo K HK; Kramer, Holly H; Lin, Honghuang H; Leach, I Mateo IM; Ford, Ian I; Guessous, Idris I; Rudan, Igor I; Prokopenko, Inga I; Borecki, Ingrid I; Heid, Iris M IM; Kolcic, Ivana I; Persico, Ivana I; Jukema, J Wouter JW; Wilson, James F JF; Felix, Janine F JF; Divers, Jasmin J; Lambert, Jean-Charles JC; Stafford, Jeanette M JM; Gaspoz, Jean-Michel JM; Smith, Jennifer A JA; Faul, Jessica D JD; Wang, Jie Jin JJ; Ding, Jingzhong J; Hirschhorn, Joel N JN; Attia, John J; Whitfield, John B JB; Chalmers, John J; Viikari, Jorma J; Coresh, Josef J; Denny, Joshua C JC; Karjalainen, Juha J; Fernandes, Jyotika K JK; Endlich, Karlhans K; Butterbach, Katja K; Keene, Keith L KL; Lohman, Kurt K; Portas, Laura L; Launer, Lenore J LJ; Lyytikäinen, Leo-Pekka LP; Yengo, Loic L; Franke, Lude L; Ferrucci, Luigi L; Rose, Lynda M LM; Kedenko, Lyudmyla L; Rao, Madhumathi M; Struchalin, Maksim M; Kleber, Marcus E ME; Cavalieri, Margherita M; Haun, Margot M; Cornelis, Marilyn C MC; Ciullo, Marina M; Pirastu, Mario M; de Andrade, Mariza M; McEvoy, Mark A MA; Woodward, Mark M; Adam, Martin M; Cocca, Massimiliano M; Nauck, Matthias M; Imboden, Medea M; Waldenberger, Melanie M; Pruijm, Menno M; Metzger, Marie M; Stumvoll, Michael M; Evans, Michele K MK; Sale, Michele M MM; Kähönen, Mika M; Boban, Mladen M; Bochud, Murielle M; Rheinberger, Myriam M; Verweij, Niek N; Bouatia-Naji, Nabila N; Martin, Nicholas G NG; Hastie, Nick N; Probst-Hensch, Nicole N; Soranzo, Nicole N; Devuyst, Olivier O; Raitakari, Olli O; Gottesman, Omri O; Franco, Oscar H OH; Polasek, Ozren O; Gasparini, Paolo P; Munroe, Patricia B PB; Ridker, Paul M PM; Mitchell, Paul P; Muntner, Paul P; Meisinger, Christa C; Smit, Johannes H JH; , ; , ; , ; , ; , ; Kovacs, Peter P; Wild, Philipp S PS; Froguel, Philippe P; Rettig, Rainer R; Mägi, Reedik R; Biffar, Reiner R; Schmidt, Reinhold R; Middelberg, Rita P S RP; Carroll, Robert J RJ; Penninx, Brenda W BW; Scott, Rodney J RJ; Katz, Ronit R; Sedaghat, Sanaz S; Wild, Sarah H SH; Kardia, Sharon L R SL; Ulivi, Sheila S; Hwang, Shih-Jen SJ; Enroth, Stefan S; Kloiber, Stefan S; Trompet, Stella S; Stengel, Benedicte B; Hancock, Stephen J SJ; Turner, Stephen T ST; Rosas, Sylvia E SE; Stracke, Sylvia S; Harris, Tamara B TB; Zeller, Tanja T; Zemunik, Tatijana T; Lehtimäki, Terho T; Illig, Thomas T; Aspelund, Thor T; Nikopensius, Tiit T; Esko, Tonu T; Tanaka, Toshiko T; Gyllensten, Ulf U; Völker, Uwe U; Emilsson, Valur V; Vitart, Veronique V; Aalto, Ville V; Gudnason, Vilmundur V; Chouraki, Vincent V; Chen, Wei-Min WM; Igl, Wilmar W; März, Winfried W; Koenig, Wolfgang W; Lieb, Wolfgang W; Loos, Ruth J F RJ; Liu, Yongmei Y; Snieder, Harold H; Pramstaller, Peter P PP; Parsa, Afshin A; O'Connell, Jeffrey R JR; Susztak, Katalin K; Hamet, Pavel P; Tremblay, Johanne J; de Boer, Ian H IH; Böger, Carsten A CA; Goessling, Wolfram W; Chasman, Daniel I DI; Köttgen, Anna A; Kao, W H Linda WH; Fox, Caroline S CS
Publication Date: 2016-01-21

Variant appearance in text: rs2071047
PubMed Link: 26831199
Variant Present in the following documents:
  • ncomms10023-s1.pdf
View BVdb publication page



Capture Hi-C identifies the chromatin interactome of colorectal cancer risk loci.

Nature Communications
Jäger, Roland R; Migliorini, Gabriele G; Henrion, Marc M; Kandaswamy, Radhika R; Speedy, Helen E HE; Heindl, Andreas A; Whiffin, Nicola N; Carnicer, Maria J MJ; Broome, Laura L; Dryden, Nicola N; Nagano, Takashi T; Schoenfelder, Stefan S; Enge, Martin M; Yuan, Yinyin Y; Taipale, Jussi J; Fraser, Peter P; Fletcher, Olivia O; Houlston, Richard S RS
Publication Date: 2015-02-19

Variant appearance in text: rs2071047
PubMed Link: 25695508
Variant Present in the following documents:
  • ncomms7178-s1.pdf
View BVdb publication page



Joint testing of genotypic and gene-environment interaction identified novel association for BMP4 with non-syndromic CL/P in an Asian population using data from an International Cleft Consortium.

Plos One
Chen, Qianqian Q; Wang, Hong H; Schwender, Holger H; Zhang, Tianxiao T; Hetmanski, Jacqueline B JB; Chou, Yah-Huei Wu YH; Ye, Xiaoqian X; Yeow, Vincent V; Chong, Samuel S SS; Zhang, Bo B; Jabs, Ethylin Wang EW; Parker, Margaret M MM; Scott, Alan F AF; Beaty, Terri H TH
Publication Date: 2014

Variant appearance in text: rs2071047
PubMed Link: 25303326
Variant Present in the following documents:
  • Main text
  • pone.0109038.pdf
View BVdb publication page



Common variations in BMP4 confer genetic susceptibility to sporadic congenital heart disease in a Han Chinese population.

Pediatric Cardiology
Qian, Bo B; Mo, Ran R; Da, Min M; Peng, Wei W; Hu, Yuanli Y; Mo, Xuming X
Publication Date: 2014-12

Variant appearance in text: rs2071047
PubMed Link: 25022354
Variant Present in the following documents:
  • Main text
  • 246_2014_Article_951.pdf
View BVdb publication page



Association of genetic variants of BMP4 with type 2 diabetes mellitus and clinical traits in a Chinese Han population.

Biomed Research International
Tang, Shanshan S; Zhang, Rong R; Yu, Weihui W; Jiang, Feng F; Wang, Jie J; Chen, Miao M; Peng, Danfeng D; Yan, Jing J; Bao, Yuqian Y; Jia, Weiping W
Publication Date: 2013

Variant appearance in text: rs2071047
PubMed Link: 24350253
Variant Present in the following documents:
  • Main text
  • BMRI2013-238150.pdf
View BVdb publication page



BMP4 was associated with NSCL/P in an Asian population.

Plos One
Chen, Qianqian Q; Wang, Hong H; Hetmanski, Jacqueline B JB; Zhang, Tianxiao T; Ruczinski, Ingo I; Schwender, Holger H; Liang, Kung Yee KY; Fallin, M Daniele MD; Redett, Richard J RJ; Raymond, Gerald V GV; Wu Chou, Yah-Huei YH; Chen, Philip Kuo-Ting PK; Yeow, Vincent V; Chong, Samuel S SS; Cheah, Felicia S H FS; Jabs, Ethylin Wang EW; Scott, Alan F AF; Beaty, Terri H TH
Publication Date: 2012

Variant appearance in text: rs2071047
PubMed Link: 22514733
Variant Present in the following documents:
  • Main text
  • pone.0035347.pdf
View BVdb publication page



Replication study of SNP associations for colorectal cancer in Hong Kong Chinese.

British Journal Of Cancer
Ho, J W JW; Choi, S-c SC; Lee, Y-f YF; Hui, T C TC; Cherny, S S SS; Garcia-Barceló, M-M MM; Carvajal-Carmona, L L; Liu, R R; To, S-h SH; Yau, T-k TK; Chung, C C CC; Yau, C C CC; Hui, S M SM; Lau, P Y PY; Yuen, C-h CH; Wong, Y-w YW; Ho, S S; Fung, S S SS; Tomlinson, I P IP; Houlston, R S RS; Cheng, K K KK; Sham, P C PC
Publication Date: 2011-01-18

Variant appearance in text: rs2071047
PubMed Link: 21179028
Variant Present in the following documents:
  • Main text
  • 6605977a.pdf
View BVdb publication page



Bone morphogenetic protein 7 (BMP7) gene polymorphisms are associated with inverse relationships between vascular calcification and BMD: the Diabetes Heart Study.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Freedman, Barry I BI; Bowden, Donald W DW; Ziegler, Julie T JT; Langefeld, Carl D CD; Lehtinen, Allison B AB; Rudock, Megan E ME; Lenchik, Leon L; Hruska, Keith A KA; Register, Thomas C TC; Carr, J Jeffrey JJ
Publication Date: 2009-10

Variant appearance in text: rs2071047
PubMed Link: 19453255
Variant Present in the following documents:
  • Main text
View BVdb publication page