DBH c.235C>G ;(p.R79G)

Variant ID: 9-136501728-C-G

NM_000787.3(DBH):c.235C>G;(p.R79G)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


FinnGen provides genetic insights from a well-phenotyped isolated population.

Nature
Kurki, Mitja I MI; Karjalainen, Juha J; Palta, Priit P; Sipilä, Timo P TP; Kristiansson, Kati K; Donner, Kati M KM; Reeve, Mary P MP; Laivuori, Hannele H; Aavikko, Mervi M; Kaunisto, Mari A MA; Loukola, Anu A; Lahtela, Elisa E; Mattsson, Hannele H; Laiho, Päivi P; Della Briotta Parolo, Pietro P; Lehisto, Arto A AA; Kanai, Masahiro M; Mars, Nina N; Rämö, Joel J; Kiiskinen, Tuomo T; Heyne, Henrike O HO; Veerapen, Kumar K; Rüeger, Sina S; Lemmelä, Susanna S; Zhou, Wei W; Ruotsalainen, Sanni S; Pärn, Kalle K; Hiekkalinna, Tero T; Koskelainen, Sami S; Paajanen, Teemu T; Llorens, Vincent V; Gracia-Tabuenca, Javier J; Siirtola, Harri H; Reis, Kadri K; Elnahas, Abdelrahman G AG; Sun, Benjamin B; Foley, Christopher N CN; Aalto-Setälä, Katriina K; Alasoo, Kaur K; Arvas, Mikko M; Auro, Kirsi K; Biswas, Shameek S; Bizaki-Vallaskangas, Argyro A; Carpen, Olli O; Chen, Chia-Yen CY; Dada, Oluwaseun A OA; Ding, Zhihao Z; Ehm, Margaret G MG; Eklund, Kari K; Färkkilä, Martti M; Finucane, Hilary H; Ganna, Andrea A; Ghazal, Awaisa A; Graham, Robert R RR; Green, Eric M EM; Hakanen, Antti A; Hautalahti, Marco M; Hedman, Åsa K ÅK; Hiltunen, Mikko M; Hinttala, Reetta R; Hovatta, Iiris I; Hu, Xinli X; Huertas-Vazquez, Adriana A; Huilaja, Laura L; Hunkapiller, Julie J; Jacob, Howard H; Jensen, Jan-Nygaard JN; Joensuu, Heikki H; John, Sally S; Julkunen, Valtteri V; Jung, Marc M; Junttila, Juhani J; Kaarniranta, Kai K; Kähönen, Mika M; Kajanne, Risto R; Kallio, Lila L; Kälviäinen, Reetta R; Kaprio, Jaakko J; , ; Kerimov, Nurlan N; Kettunen, Johannes J; Kilpeläinen, Elina E; Kilpi, Terhi T; Klinger, Katherine K; Kosma, Veli-Matti VM; Kuopio, Teijo T; Kurra, Venla V; Laisk, Triin T; Laukkanen, Jari J; Lawless, Nathan N; Liu, Aoxing A; Longerich, Simonne S; Mägi, Reedik R; Mäkelä, Johanna J; Mäkitie, Antti A; Malarstig, Anders A; Mannermaa, Arto A; Maranville, Joseph J; Matakidou, Athena A; Meretoja, Tuomo T; Mozaffari, Sahar V SV; Niemi, Mari E K MEK; Niemi, Marianna M; Niiranen, Teemu T; O Donnell, Christopher J CJ; Obeidat, Ma En ME; Okafo, George G; Ollila, Hanna M HM; Palomäki, Antti A; Palotie, Tuula T; Partanen, Jukka J; Paul, Dirk S DS; Pelkonen, Margit M; Pendergrass, Rion K RK; Petrovski, Slavé S; Pitkäranta, Anne A; Platt, Adam A; Pulford, David D; Punkka, Eero E; Pussinen, Pirkko P; Raghavan, Neha N; Rahimov, Fedik F; Rajpal, Deepak D; Renaud, Nicole A NA; Riley-Gillis, Bridget B; Rodosthenous, Rodosthenis R; Saarentaus, Elmo E; Salminen, Aino A; Salminen, Eveliina E; Salomaa, Veikko V; Schleutker, Johanna J; Serpi, Raisa R; Shen, Huei-Yi HY; Siegel, Richard R; Silander, Kaisa K; Siltanen, Sanna S; Soini, Sirpa S; Soininen, Hilkka H; Sul, Jae Hoon JH; Tachmazidou, Ioanna I; Tasanen, Kaisa K; Tienari, Pentti P; Toppila-Salmi, Sanna S; Tukiainen, Taru T; Tuomi, Tiinamaija T; Turunen, Joni A JA; Ulirsch, Jacob C JC; Vaura, Felix F; Virolainen, Petri P; Waring, Jeffrey J; Waterworth, Dawn D; Yang, Robert R; Nelis, Mari M; Reigo, Anu A; Metspalu, Andres A; Milani, Lili L; Esko, Tõnu T; Fox, Caroline C; Havulinna, Aki S AS; Perola, Markus M; Ripatti, Samuli S; Jalanko, Anu A; Laitinen, Tarja T; Mäkelä, Tomi P TP; Plenge, Robert R; McCarthy, Mark M; Runz, Heiko H; Daly, Mark J MJ; Palotie, Aarno A
Publication Date: 2023-01

Variant appearance in text: rs77273740
PubMed Link: 36653562
Variant Present in the following documents:
  • 41586_2022_5473_MOESM4_ESM.xlsx, sheet 11
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Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.

Nature Communications
Yin, Xianyong X; Chan, Lap Sum LS; Bose, Debraj D; Jackson, Anne U AU; VandeHaar, Peter P; Locke, Adam E AE; Fuchsberger, Christian C; Stringham, Heather M HM; Welch, Ryan R; Yu, Ketian K; Fernandes Silva, Lilian L; Service, Susan K SK; Zhang, Daiwei D; Hector, Emily C EC; Young, Erica E; Ganel, Liron L; Das, Indraniel I; Abel, Haley H; Erdos, Michael R MR; Bonnycastle, Lori L LL; Kuusisto, Johanna J; Stitziel, Nathan O NO; Hall, Ira M IM; Wagner, Gregory R GR; , ; Kang, Jian J; Morrison, Jean J; Burant, Charles F CF; Collins, Francis S FS; Ripatti, Samuli S; Palotie, Aarno A; Freimer, Nelson B NB; Mohlke, Karen L KL; Scott, Laura J LJ; Wen, Xiaoquan X; Fauman, Eric B EB; Laakso, Markku M; Boehnke, Michael M
Publication Date: 2022-03-28

Variant appearance in text: rs77273740
PubMed Link: 35347128
Variant Present in the following documents:
  • 41467_2022_29143_MOESM1_ESM.pdf
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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.

Nature Genetics
Surendran, Praveen P; Feofanova, Elena V EV; Lahrouchi, Najim N; Ntalla, Ioanna I; Karthikeyan, Savita S; Cook, James J; Chen, Lingyan L; Mifsud, Borbala B; Yao, Chen C; Kraja, Aldi T AT; Cartwright, James H JH; Hellwege, Jacklyn N JN; Giri, Ayush A; Tragante, Vinicius V; Thorleifsson, Gudmar G; Liu, Dajiang J DJ; Prins, Bram P BP; Stewart, Isobel D ID; Cabrera, Claudia P CP; Eales, James M JM; Akbarov, Artur A; Auer, Paul L PL; Bielak, Lawrence F LF; Bis, Joshua C JC; Braithwaite, Vickie S VS; Brody, Jennifer A JA; Daw, E Warwick EW; Warren, Helen R HR; Drenos, Fotios F; Nielsen, Sune Fallgaard SF; Faul, Jessica D JD; Fauman, Eric B EB; Fava, Cristiano C; Ferreira, Teresa T; Foley, Christopher N CN; Franceschini, Nora N; Gao, He H; Giannakopoulou, Olga O; Giulianini, Franco F; Gudbjartsson, Daniel F DF; Guo, Xiuqing X; Harris, Sarah E SE; Havulinna, Aki S AS; Helgadottir, Anna A; Huffman, Jennifer E JE; Hwang, Shih-Jen SJ; Kanoni, Stavroula S; Kontto, Jukka J; Larson, Martin G MG; Li-Gao, Ruifang R; Lindström, Jaana J; Lotta, Luca A LA; Lu, Yingchang Y; Luan, Jian'an J; Mahajan, Anubha A; Malerba, Giovanni G; Masca, Nicholas G D NGD; Mei, Hao H; Menni, Cristina C; Mook-Kanamori, Dennis O DO; Mosen-Ansorena, David D; Müller-Nurasyid, Martina M; Paré, Guillaume G; Paul, Dirk S DS; Perola, Markus M; Poveda, Alaitz A; Rauramaa, Rainer R; Richard, Melissa M; Richardson, Tom G TG; Sepúlveda, Nuno N; Sim, Xueling X; Smith, Albert V AV; Smith, Jennifer A JA; Staley, James R JR; Stanáková, Alena A; Sulem, Patrick P; Thériault, Sébastien S; Thorsteinsdottir, Unnur U; Trompet, Stella S; Varga, Tibor V TV; Velez Edwards, Digna R DR; Veronesi, Giovanni G; Weiss, Stefan S; Willems, Sara M SM; Yao, Jie J; Young, Robin R; Yu, Bing B; Zhang, Weihua W; Zhao, Jing-Hua JH; Zhao, Wei W; Zhao, Wei W; Evangelou, Evangelos E; Aeschbacher, Stefanie S; Asllanaj, Eralda E; Blankenberg, Stefan S; Bonnycastle, Lori L LL; Bork-Jensen, Jette J; Brandslund, Ivan I; Braund, Peter S PS; Burgess, Stephen S; Cho, Kelly K; Christensen, Cramer C; Connell, John J; Mutsert, Renée de R; Dominiczak, Anna F AF; Dörr, Marcus M; Eiriksdottir, Gudny G; Farmaki, Aliki-Eleni AE; Gaziano, J Michael JM; Grarup, Niels N; Grove, Megan L ML; Hallmans, Göran G; Hansen, Torben T; Have, Christian T CT; Heiss, Gerardo G; Jørgensen, Marit E ME; Jousilahti, Pekka P; Kajantie, Eero E; Kamat, Mihir M; Käräjämäki, AnneMari A; Karpe, Fredrik F; Koistinen, Heikki A HA; Kovesdy, Csaba P CP; Kuulasmaa, Kari K; Laatikainen, Tiina T; Lannfelt, Lars L; Lee, I-Te IT; Lee, Wen-Jane WJ; , ; Linneberg, Allan A; Martin, Lisa W LW; Moitry, Marie M; Nadkarni, Girish G; Neville, Matt J MJ; Palmer, Colin N A CNA; Papanicolaou, George J GJ; Pedersen, Oluf O; Peters, James J; Poulter, Neil N; Rasheed, Asif A; Rasmussen, Katrine L KL; Rayner, N William NW; Mägi, Reedik R; Renström, Frida F; Rettig, Rainer R; Rossouw, Jacques J; Schreiner, Pamela J PJ; Sever, Peter S PS; Sigurdsson, Emil L EL; Skaaby, Tea T; Sun, Yan V YV; Sundstrom, Johan J; Thorgeirsson, Gudmundur G; Esko, Tõnu T; Trabetti, Elisabetta E; Tsao, Philip S PS; Tuomi, Tiinamaija T; Turner, Stephen T ST; Tzoulaki, Ioanna I; Vaartjes, Ilonca I; Vergnaud, Anne-Claire AC; Willer, Cristen J CJ; Wilson, Peter W F PWF; Witte, Daniel R DR; Yonova-Doing, Ekaterina E; Zhang, He H; Aliya, Naheed N; Almgren, Peter P; Amouyel, Philippe P; Asselbergs, Folkert W FW; Barnes, Michael R MR; Blakemore, Alexandra I AI; Boehnke, Michael M; Bots, Michiel L ML; Bottinger, Erwin P EP; Buring, Julie E JE; Chambers, John C JC; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Conen, David D; Correa, Adolfo A; Davey Smith, George G; Boer, Rudolf A de RA; Deary, Ian J IJ; Dedoussis, George G; Deloukas, Panos P; Di Angelantonio, Emanuele E; Elliott, Paul P; , ; , ; Felix, Stephan B SB; Ferrières, Jean J; Ford, Ian I; Fornage, Myriam M; Franks, Paul W PW; Franks, Stephen S; Frossard, Philippe P; Gambaro, Giovanni G; Gaunt, Tom R TR; Groop, Leif L; Gudnason, Vilmundur V; Harris, Tamara B TB; Hayward, Caroline C; Hennig, Branwen J BJ; Herzig, Karl-Heinz KH; Ingelsson, Erik E; Tuomilehto, Jaakko J; Järvelin, Marjo-Riitta MR; Jukema, J Wouter JW; Kardia, Sharon L R SLR; Kee, Frank F; Kooner, Jaspal S JS; Kooperberg, Charles C; Launer, Lenore J LJ; Lind, Lars L; Loos, Ruth J F RJF; Majumder, Abdulla Al Shafi AAS; Laakso, Markku M; McCarthy, Mark I MI; Melander, Olle O; Mohlke, Karen L KL; Murray, Alison D AD; Nordestgaard, Børge Grønne BG; Orho-Melander, Marju M; Packard, Chris J CJ; Padmanabhan, Sandosh S; Palmas, Walter W; Polasek, Ozren O; Porteous, David J DJ; Prentice, Andrew M AM; Province, Michael A MA; Relton, Caroline L CL; Rice, Kenneth K; Ridker, Paul M PM; Rolandsson, Olov O; Rosendaal, Frits R FR; Rotter, Jerome I JI; Rudan, Igor I; Salomaa, Veikko V; Samani, Nilesh J NJ; Sattar, Naveed N; Sheu, Wayne H-H WH; Smith, Blair H BH; Soranzo, Nicole N; Spector, Timothy D TD; Starr, John M JM; Sebert, Sylvain S; Taylor, Kent D KD; Lakka, Timo A TA; Timpson, Nicholas J NJ; Tobin, Martin D MD; , ; van der Harst, Pim P; van der Meer, Peter P; Ramachandran, Vasan S VS; Verweij, Niek N; Virtamo, Jarmo J; Völker, Uwe U; Weir, David R DR; Zeggini, Eleftheria E; Charchar, Fadi J FJ; , ; Wareham, Nicholas J NJ; Langenberg, Claudia C; Tomaszewski, Maciej M; Butterworth, Adam S AS; Caulfield, Mark J MJ; Danesh, John J; Edwards, Todd L TL; Holm, Hilma H; Hung, Adriana M AM; Lindgren, Cecilia M CM; Liu, Chunyu C; Manning, Alisa K AK; Morris, Andrew P AP; Morrison, Alanna C AC; O'Donnell, Christopher J CJ; Psaty, Bruce M BM; Saleheen, Danish D; Stefansson, Kari K; Boerwinkle, Eric E; Chasman, Daniel I DI; Levy, Daniel D; Newton-Cheh, Christopher C; Munroe, Patricia B PB; Howson, Joanna M M JMM
Publication Date: 2020-12

Variant appearance in text: rs77273740
PubMed Link: 33230300
Variant Present in the following documents:
  • Main text
View BVdb publication page



A single nucleotide polymorphism in dopamine beta hydroxylase (rs6271(C>T)) is over-represented in inflammatory bowel disease patients and reduces circulating enzyme.

Plos One
Gonzalez-Lopez, Eugene E; Kawasawa-Imamura, Yuka Y; Zhang, Lijun L; Huang, Xuemei X; Koltun, Walter A WA; Coates, Matthew D MD; Vrana, Kent E KE
Publication Date: 2019

Variant appearance in text: rs77273740
PubMed Link: 30817802
Variant Present in the following documents:
  • Main text
  • pone.0210175.pdf
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Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs77273740
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
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: rs77273740
PubMed Link: 27618447
Variant Present in the following documents:
  • Main text
  • emss-69533.pdf
  • NIHMS69533-supplement-Supplementary_Tables.xlsx, sheet 5
View BVdb publication page