DBP c.485C>A ;(p.P162H)

Variant ID: 19-49138902-G-T

NM_001352.3(DBP):c.485C>A;(p.P162H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

Nature Genetics
Liu, Chunyu C; Kraja, Aldi T AT; Smith, Jennifer A JA; Brody, Jennifer A JA; Franceschini, Nora N; Bis, Joshua C JC; Rice, Kenneth K; Morrison, Alanna C AC; Lu, Yingchang Y; Weiss, Stefan S; Guo, Xiuqing X; Palmas, Walter W; Martin, Lisa W LW; Chen, Yii-Der Ida YD; Surendran, Praveen P; Drenos, Fotios F; Cook, James P JP; Auer, Paul L PL; Chu, Audrey Y AY; Giri, Ayush A; Zhao, Wei W; Jakobsdottir, Johanna J; Lin, Li-An LA; Stafford, Jeanette M JM; Amin, Najaf N; Mei, Hao H; Yao, Jie J; Voorman, Arend A; , ; , ; , ; , ; Larson, Martin G MG; Grove, Megan L ML; Smith, Albert V AV; Hwang, Shih-Jen SJ; Chen, Han H; Huan, Tianxiao T; Kosova, Gulum G; Stitziel, Nathan O NO; Kathiresan, Sekar S; Samani, Nilesh N; Schunkert, Heribert H; Deloukas, Panos P; , ; Li, Man M; Fuchsberger, Christian C; Pattaro, Cristian C; Gorski, Mathias M; , ; Kooperberg, Charles C; Papanicolaou, George J GJ; Rossouw, Jacques E JE; Faul, Jessica D JD; Kardia, Sharon L R SL; Bouchard, Claude C; Raffel, Leslie J LJ; Uitterlinden, André G AG; Franco, Oscar H OH; Vasan, Ramachandran S RS; O'Donnell, Christopher J CJ; Taylor, Kent D KD; Liu, Kiang K; Bottinger, Erwin P EP; Gottesman, Omri O; Daw, E Warwick EW; Giulianini, Franco F; Ganesh, Santhi S; Salfati, Elias E; Harris, Tamara B TB; Launer, Lenore J LJ; Dörr, Marcus M; Felix, Stephan B SB; Rettig, Rainer R; Völzke, Henry H; Kim, Eric E; Lee, Wen-Jane WJ; Lee, I-Te IT; Sheu, Wayne H-H WH; Tsosie, Krystal S KS; Edwards, Digna R Velez DR; Liu, Yongmei Y; Correa, Adolfo A; Weir, David R DR; Völker, Uwe U; Ridker, Paul M PM; Boerwinkle, Eric E; Gudnason, Vilmundur V; Reiner, Alexander P AP; van Duijn, Cornelia M CM; Borecki, Ingrid B IB; Edwards, Todd L TL; Chakravarti, Aravinda A; Rotter, Jerome I JI; Psaty, Bruce M BM; Loos, Ruth J F RJ; Fornage, Myriam M; Ehret, Georg B GB; Newton-Cheh, Christopher C; Levy, Daniel D; Chasman, Daniel I DI
Publication Date: 2016-10

Variant appearance in text: DBP: P162H
PubMed Link: 27618448
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.

Nature Genetics
Surendran, Praveen P; Drenos, Fotios F; Young, Robin R; Warren, Helen H; Cook, James P JP; Manning, Alisa K AK; Grarup, Niels N; Sim, Xueling X; Barnes, Daniel R DR; Witkowska, Kate K; Staley, James R JR; Tragante, Vinicius V; Tukiainen, Taru T; Yaghootkar, Hanieh H; Masca, Nicholas N; Freitag, Daniel F DF; Ferreira, Teresa T; Giannakopoulou, Olga O; Tinker, Andrew A; Harakalova, Magdalena M; Mihailov, Evelin E; Liu, Chunyu C; Kraja, Aldi T AT; Fallgaard Nielsen, Sune S; Rasheed, Asif A; Samuel, Maria M; Zhao, Wei W; Bonnycastle, Lori L LL; Jackson, Anne U AU; Narisu, Narisu N; Swift, Amy J AJ; Southam, Lorraine L; Marten, Jonathan J; Huyghe, Jeroen R JR; Stančáková, Alena A; Fava, Cristiano C; Ohlsson, Therese T; Matchan, Angela A; Stirrups, Kathleen E KE; Bork-Jensen, Jette J; Gjesing, Anette P AP; Kontto, Jukka J; Perola, Markus M; Shaw-Hawkins, Susan S; Havulinna, Aki S AS; Zhang, He H; Donnelly, Louise A LA; Groves, Christopher J CJ; Rayner, N William NW; Neville, Matt J MJ; Robertson, Neil R NR; Yiorkas, Andrianos M AM; Herzig, Karl-Heinz KH; Kajantie, Eero E; Zhang, Weihua W; Willems, Sara M SM; Lannfelt, Lars L; Malerba, Giovanni G; Soranzo, Nicole N; Trabetti, Elisabetta E; Verweij, Niek N; Evangelou, Evangelos E; Moayyeri, Alireza A; Vergnaud, Anne-Claire AC; Nelson, Christopher P CP; Poveda, Alaitz A; Varga, Tibor V TV; Caslake, Muriel M; de Craen, Anton Jm AJ; Trompet, Stella S; Luan, Jian'an J; Scott, Robert A RA; Harris, Sarah E SE; Liewald, David Cm DC; Marioni, Riccardo R; Menni, Cristina C; Farmaki, Aliki-Eleni AE; Hallmans, Göran G; Renström, Frida F; Huffman, Jennifer E JE; Hassinen, Maija M; Burgess, Stephen S; Vasan, Ramachandran S RS; Felix, Janine F JF; , ; Uria-Nickelsen, Maria M; Malarstig, Anders A; Reily, Dermot F DF; Hoek, Maarten M; Vogt, Thomas T; Lin, Honghuang H; Lieb, Wolfgang W; , ; Traylor, Matthew M; Markus, Hugh F HF; , ; Highland, Heather M HM; Justice, Anne E AE; Marouli, Eirini E; , ; Lindström, Jaana J; Uusitupa, Matti M; Komulainen, Pirjo P; Lakka, Timo A TA; Rauramaa, Rainer R; Polasek, Ozren O; Rudan, Igor I; Rolandsson, Olov O; Franks, Paul W PW; Dedoussis, George G; Spector, Timothy D TD; , ; Jousilahti, Pekka P; Männistö, Satu S; Deary, Ian J IJ; Starr, John M JM; Langenberg, Claudia C; Wareham, Nick J NJ; Brown, Morris J MJ; Dominiczak, Anna F AF; Connell, John M JM; Jukema, J Wouter JW; Sattar, Naveed N; Ford, Ian I; Packard, Chris J CJ; Esko, Tõnu T; Mägi, Reedik R; Metspalu, Andres A; de Boer, Rudolf A RA; van der Meer, Peter P; van der Harst, Pim P; , ; Gambaro, Giovanni G; Ingelsson, Erik E; Lind, Lars L; de Bakker, Paul Iw PI; Numans, Mattijs E ME; Brandslund, Ivan I; Christensen, Cramer C; Petersen, Eva Rb ER; Korpi-Hyövälti, Eeva E; Oksa, Heikki H; Chambers, John C JC; Kooner, Jaspal S JS; Blakemore, Alexandra If AI; Franks, Steve S; Jarvelin, Marjo-Riitta MR; Husemoen, Lise L LL; Linneberg, Allan A; Skaaby, Tea T; Thuesen, Betina B; Karpe, Fredrik F; Tuomilehto, Jaakko J; Doney, Alex Sf AS; Morris, Andrew D AD; Palmer, Colin Na CN; Holmen, Oddgeir Lingaas OL; Hveem, Kristian K; Willer, Cristen J CJ; Tuomi, Tiinamaija T; Groop, Leif L; Käräjämäki, AnneMari A; Palotie, Aarno A; Ripatti, Samuli S; Salomaa, Veikko V; Alam, Dewan S DS; Shafi Majumder, Abdulla Al AA; Di Angelantonio, Emanuele E; Chowdhury, Rajiv R; McCarthy, Mark I MI; Poulter, Neil N; Stanton, Alice V AV; Sever, Peter P; Amouyel, Philippe P; Arveiler, Dominique D; Blankenberg, Stefan S; Ferrières, Jean J; Kee, Frank F; Kuulasmaa, Kari K; Müller-Nurasyid, Martina M; Veronesi, Giovanni G; Virtamo, Jarmo J; Deloukas, Panos P; , ; Elliott, Paul P; , ; Zeggini, Eleftheria E; Kathiresan, Sekar S; Melander, Olle O; Kuusisto, Johanna J; Laakso, Markku M; Padmanabhan, Sandosh S; Porteous, David D; Hayward, Caroline C; Scotland, Generation G; Collins, Francis S FS; Mohlke, Karen L KL; Hansen, Torben T; Pedersen, Oluf O; Boehnke, Michael M; Stringham, Heather M HM; , ; Frossard, Philippe P; Newton-Cheh, Christopher C; , ; Tobin, Martin D MD; Nordestgaard, Børge Grønne BG; , ; , ; , ; , ; Caulfield, Mark J MJ; Mahajan, Anubha A; Morris, Andrew P AP; Tomaszewski, Maciej M; Samani, Nilesh J NJ; Saleheen, Danish D; Asselbergs, Folkert W FW; Lindgren, Cecilia M CM; Danesh, John J; Wain, Louise V LV; Butterworth, Adam S AS; Howson, Joanna Mm JM; Munroe, Patricia B PB
Publication Date: 2016-10

Variant appearance in text: DBP: P162H
PubMed Link: 27618447
Variant Present in the following documents:
  • NIHMS69533-supplement-Supplementary_Tables.xlsx, sheet 5
View BVdb publication page



Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

American Journal Of Human Genetics
Ferdinandusse, Sacha S; Ylianttila, Mari S MS; Gloerich, Jolein J; Koski, M Kristian MK; Oostheim, Wendy W; Waterham, Hans R HR; Hiltunen, J Kalervo JK; Wanders, Ronald J A RJ; Glumoff, Tuomo T
Publication Date: 2006-01

Variant appearance in text:
PubMed Link: 16385454
Variant Present in the following documents:
  • Main text
View BVdb publication page