BAZ1B c.2594-997C>T

Variant ID: 7-72885810-G-A

NM_032408.3(BAZ1B):c.2594-997C>T

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Systemic Investigation of Promoter-wide Methylome and Genome Variations in Gout.

International Journal Of Molecular Sciences
Tseng, Chia-Chun CC; Wong, Man Chun MC; Liao, Wei-Ting WT; Chen, Chung-Jen CJ; Lee, Su-Chen SC; Yen, Jeng-Hsien JH; Chang, Shun-Jen SJ
Publication Date: 2020-07-01

Variant appearance in text: rs6976930
PubMed Link: 32630231
Variant Present in the following documents:
  • ijms-21-04702-s001.pdf
View BVdb publication page



Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.

Nature Genetics
Justice, Anne E AE; Karaderi, Tugce T; Highland, Heather M HM; Young, Kristin L KL; Graff, Mariaelisa M; Lu, Yingchang Y; Turcot, Valérie V; Auer, Paul L PL; Fine, Rebecca S RS; Guo, Xiuqing X; Schurmann, Claudia C; Lempradl, Adelheid A; Marouli, Eirini E; Mahajan, Anubha A; Winkler, Thomas W TW; Locke, Adam E AE; Medina-Gomez, Carolina C; Esko, Tõnu T; Vedantam, Sailaja S; Giri, Ayush A; Lo, Ken Sin KS; Alfred, Tamuno T; Mudgal, Poorva P; Ng, Maggie C Y MCY; Heard-Costa, Nancy L NL; Feitosa, Mary F MF; Manning, Alisa K AK; Willems, Sara M SM; Sivapalaratnam, Suthesh S; Abecasis, Goncalo G; Alam, Dewan S DS; Allison, Matthew M; Amouyel, Philippe P; Arzumanyan, Zorayr Z; Balkau, Beverley B; Bastarache, Lisa L; Bergmann, Sven S; Bielak, Lawrence F LF; Blüher, Matthias M; Boehnke, Michael M; Boeing, Heiner H; Boerwinkle, Eric E; Böger, Carsten A CA; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Bowden, Donald W DW; Brandslund, Ivan I; Broer, Linda L; Burt, Amber A AA; Butterworth, Adam S AS; Caulfield, Mark J MJ; Cesana, Giancarlo G; Chambers, John C JC; Chasman, Daniel I DI; Chen, Yii-Der Ida YI; Chowdhury, Rajiv R; Christensen, Cramer C; Chu, Audrey Y AY; Collins, Francis S FS; Cook, James P JP; Cox, Amanda J AJ; Crosslin, David S DS; Danesh, John J; de Bakker, Paul I W PIW; Denus, Simon de S; Mutsert, Renée de R; Dedoussis, George G; Demerath, Ellen W EW; Dennis, Joe G JG; Denny, Josh C JC; Di Angelantonio, Emanuele E; Dörr, Marcus M; Drenos, Fotios F; Dubé, Marie-Pierre MP; Dunning, Alison M AM; Easton, Douglas F DF; Elliott, Paul P; Evangelou, Evangelos E; Farmaki, Aliki-Eleni AE; Feng, Shuang S; Ferrannini, Ele E; Ferrieres, Jean J; Florez, Jose C JC; Fornage, Myriam M; Fox, Caroline S CS; Franks, Paul W PW; Friedrich, Nele N; Gan, Wei W; Gandin, Ilaria I; Gasparini, Paolo P; Giedraitis, Vilmantas V; Girotto, Giorgia G; Gorski, Mathias M; Grallert, Harald H; Grarup, Niels N; Grove, Megan L ML; Gustafsson, Stefan S; Haessler, Jeff J; Hansen, Torben T; Hattersley, Andrew T AT; Hayward, Caroline C; Heid, Iris M IM; Holmen, Oddgeir L OL; Hovingh, G Kees GK; Howson, Joanna M M JMM; Hu, Yao Y; Hung, Yi-Jen YJ; Hveem, Kristian K; Ikram, M Arfan MA; Ingelsson, Erik E; Jackson, Anne U AU; Jarvik, Gail P GP; Jia, Yucheng Y; Jørgensen, Torben T; Jousilahti, Pekka P; Justesen, Johanne M JM; Kahali, Bratati B; Karaleftheri, Maria M; Kardia, Sharon L R SLR; Karpe, Fredrik F; Kee, Frank F; Kitajima, Hidetoshi H; Komulainen, Pirjo P; Kooner, Jaspal S JS; Kovacs, Peter P; Krämer, Bernhard K BK; Kuulasmaa, Kari K; Kuusisto, Johanna J; Laakso, Markku M; Lakka, Timo A TA; Lamparter, David D; Lange, Leslie A LA; Langenberg, Claudia C; Larson, Eric B EB; Lee, Nanette R NR; Lee, Wen-Jane WJ; Lehtimäki, Terho T; Lewis, Cora E CE; Li, Huaixing H; Li, Jin J; Li-Gao, Ruifang R; Lin, Li-An LA; Lin, Xu X; Lind, Lars L; Lindström, Jaana J; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Dajiang J DJ; Luan, Jian'an J; Lyytikäinen, Leo-Pekka LP; MacGregor, Stuart S; Mägi, Reedik R; Männistö, Satu S; Marenne, Gaëlle G; Marten, Jonathan J; Masca, Nicholas G D NGD; McCarthy, Mark I MI; Meidtner, Karina K; Mihailov, Evelin E; Moilanen, Leena L; Moitry, Marie M; Mook-Kanamori, Dennis O DO; Morgan, Anna A; Morris, Andrew P AP; Müller-Nurasyid, Martina M; Munroe, Patricia B PB; Narisu, Narisu N; Nelson, Christopher P CP; Neville, Matt M; Ntalla, Ioanna I; O'Connell, Jeffrey R JR; Owen, Katharine R KR; Pedersen, Oluf O; Peloso, Gina M GM; Pennell, Craig E CE; Perola, Markus M; Perry, James A JA; Perry, John R B JRB; Pers, Tune H TH; Ewing, Ailith A; Polasek, Ozren O; Raitakari, Olli T OT; Rasheed, Asif A; Raulerson, Chelsea K CK; Rauramaa, Rainer R; Reilly, Dermot F DF; Reiner, Alex P AP; Ridker, Paul M PM; Rivas, Manuel A MA; Robertson, Neil R NR; Robino, Antonietta A; Rudan, Igor I; Ruth, Katherine S KS; Saleheen, Danish D; Salomaa, Veikko V; Samani, Nilesh J NJ; Schreiner, Pamela J PJ; Schulze, Matthias B MB; Scott, Robert A RA; Segura-Lepe, Marcelo M; Sim, Xueling X; Slater, Andrew J AJ; Small, Kerrin S KS; Smith, Blair H BH; Smith, Jennifer A JA; Southam, Lorraine L; Spector, Timothy D TD; Speliotes, Elizabeth K EK; Stefansson, Kari K; Steinthorsdottir, Valgerdur V; Stirrups, Kathleen E KE; Strauch, Konstantin K; Stringham, Heather M HM; Stumvoll, Michael M; Sun, Liang L; Surendran, Praveen P; Swart, Karin M A KMA; Tardif, Jean-Claude JC; Taylor, Kent D KD; Teumer, Alexander A; Thompson, Deborah J DJ; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Thuesen, Betina H BH; Tönjes, Anke A; Torres, Mina M; Tsafantakis, Emmanouil E; Tuomilehto, Jaakko J; Uitterlinden, André G AG; Uusitupa, Matti M; van Duijn, Cornelia M CM; Vanhala, Mauno M; Varma, Rohit R; Vermeulen, Sita H SH; Vestergaard, Henrik H; Vitart, Veronique V; Vogt, Thomas F TF; Vuckovic, Dragana D; Wagenknecht, Lynne E LE; Walker, Mark M; Wallentin, Lars L; Wang, Feijie F; Wang, Carol A CA; Wang, Shuai S; Wareham, Nicholas J NJ; Warren, Helen R HR; Waterworth, Dawn M DM; Wessel, Jennifer J; White, Harvey D HD; Willer, Cristen J CJ; Wilson, James G JG; Wood, Andrew R AR; Wu, Ying Y; Yaghootkar, Hanieh H; Yao, Jie J; Yerges-Armstrong, Laura M LM; Young, Robin R; Zeggini, Eleftheria E; Zhan, Xiaowei X; Zhang, Weihua W; Zhao, Jing Hua JH; Zhao, Wei W; Zheng, He H; Zhou, Wei W; Zillikens, M Carola MC; Rivadeneira, Fernando F; Borecki, Ingrid B IB; Pospisilik, J Andrew JA; Deloukas, Panos P; Frayling, Timothy M TM; Lettre, Guillaume G; Mohlke, Karen L KL; Rotter, Jerome I JI; Kutalik, Zoltán Z; Hirschhorn, Joel N JN; Cupples, L Adrienne LA; Loos, Ruth J F RJF; North, Kari E KE; Lindgren, Cecilia M CM; , ; , ; , ; , ; , ; , ; , ; , ; , ; ,
Publication Date: 2019-03

Variant appearance in text: rs6976930
PubMed Link: 30778226
Variant Present in the following documents:
  • Main text
  • NIHMS1016010-supplement-SupplementaryData4.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData5.xlsx, sheet 1
  • NIHMS1016010-supplement-Supplementaryfig.pdf
  • NIHMS1016010-supplement-SupplementaryData6.xlsx, sheet 1
  • NIHMS1016010-supplement-SupplementaryData14.xlsx, sheet 1
View BVdb publication page



Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

Plos Genetics
Graff, Mariaelisa M; Scott, Robert A RA; Justice, Anne E AE; Young, Kristin L KL; Feitosa, Mary F MF; Barata, Llilda L; Winkler, Thomas W TW; Chu, Audrey Y AY; Mahajan, Anubha A; Hadley, David D; Xue, Luting L; Workalemahu, Tsegaselassie T; Heard-Costa, Nancy L NL; den Hoed, Marcel M; Ahluwalia, Tarunveer S TS; Qi, Qibin Q; Ngwa, Julius S JS; Renström, Frida F; Quaye, Lydia L; Eicher, John D JD; Hayes, James E JE; Cornelis, Marilyn M; Kutalik, Zoltan Z; Lim, Elise E; Luan, Jian'an J; Huffman, Jennifer E JE; Zhang, Weihua W; Zhao, Wei W; Griffin, Paula J PJ; Haller, Toomas T; Ahmad, Shafqat S; Marques-Vidal, Pedro M PM; Bien, Stephanie S; Yengo, Loic L; Teumer, Alexander A; Smith, Albert Vernon AV; Kumari, Meena M; Harder, Marie Neergaard MN; Justesen, Johanne Marie JM; Kleber, Marcus E ME; Hollensted, Mette M; Lohman, Kurt K; Rivera, Natalia V NV; Whitfield, John B JB; Zhao, Jing Hua JH; Stringham, Heather M HM; Lyytikäinen, Leo-Pekka LP; Huppertz, Charlotte C; Willemsen, Gonneke G; Peyrot, Wouter J WJ; Wu, Ying Y; Kristiansson, Kati K; Demirkan, Ayse A; Fornage, Myriam M; Hassinen, Maija M; Bielak, Lawrence F LF; Cadby, Gemma G; Tanaka, Toshiko T; Mägi, Reedik R; van der Most, Peter J PJ; Jackson, Anne U AU; Bragg-Gresham, Jennifer L JL; Vitart, Veronique V; Marten, Jonathan J; Navarro, Pau P; Bellis, Claire C; Pasko, Dorota D; Johansson, Åsa Å; Snitker, Søren S; Cheng, Yu-Ching YC; Eriksson, Joel J; Lim, Unhee U; Aadahl, Mette M; Adair, Linda S LS; Amin, Najaf N; Balkau, Beverley B; Auvinen, Juha J; Beilby, John J; Bergman, Richard N RN; Bergmann, Sven S; Bertoni, Alain G AG; Blangero, John J; Bonnefond, Amélie A; Bonnycastle, Lori L LL; Borja, Judith B JB; Brage, Søren S; Busonero, Fabio F; Buyske, Steve S; Campbell, Harry H; Chines, Peter S PS; Collins, Francis S FS; Corre, Tanguy T; Smith, George Davey GD; Delgado, Graciela E GE; Dueker, Nicole N; Dörr, Marcus M; Ebeling, Tapani T; Eiriksdottir, Gudny G; Esko, Tõnu T; Faul, Jessica D JD; Fu, Mao M; Færch, Kristine K; Gieger, Christian C; Gläser, Sven S; Gong, Jian J; Gordon-Larsen, Penny P; Grallert, Harald H; Grammer, Tanja B TB; Grarup, Niels N; van Grootheest, Gerard G; Harald, Kennet K; Hastie, Nicholas D ND; Havulinna, Aki S AS; Hernandez, Dena D; Hindorff, Lucia L; Hocking, Lynne J LJ; Holmens, Oddgeir L OL; Holzapfel, Christina C; Hottenga, Jouke Jan JJ; Huang, Jie J; Huang, Tao T; Hui, Jennie J; Huth, Cornelia C; Hutri-Kähönen, Nina N; James, Alan L AL; Jansson, John-Olov JO; Jhun, Min A MA; Juonala, Markus M; Kinnunen, Leena L; Koistinen, Heikki A HA; Kolcic, Ivana I; Komulainen, Pirjo P; Kuusisto, Johanna J; Kvaløy, Kirsti K; Kähönen, Mika M; Lakka, Timo A TA; Launer, Lenore J LJ; Lehne, Benjamin B; Lindgren, Cecilia M CM; Lorentzon, Mattias M; Luben, Robert R; Marre, Michel M; Milaneschi, Yuri Y; Monda, Keri L KL; Montgomery, Grant W GW; De Moor, Marleen H M MHM; Mulas, Antonella A; Müller-Nurasyid, Martina M; Musk, A W AW; Männikkö, Reija R; Männistö, Satu S; Narisu, Narisu N; Nauck, Matthias M; Nettleton, Jennifer A JA; Nolte, Ilja M IM; Oldehinkel, Albertine J AJ; Olden, Matthias M; Ong, Ken K KK; Padmanabhan, Sandosh S; Paternoster, Lavinia L; Perez, Jeremiah J; Perola, Markus M; Peters, Annette A; Peters, Ulrike U; Peyser, Patricia A PA; Prokopenko, Inga I; Puolijoki, Hannu H; Raitakari, Olli T OT; Rankinen, Tuomo T; Rasmussen-Torvik, Laura J LJ; Rawal, Rajesh R; Ridker, Paul M PM; Rose, Lynda M LM; Rudan, Igor I; Sarti, Cinzia C; Sarzynski, Mark A MA; Savonen, Kai K; Scott, William R WR; Sanna, Serena S; Shuldiner, Alan R AR; Sidney, Steve S; Silbernagel, Günther G; Smith, Blair H BH; Smith, Jennifer A JA; Snieder, Harold H; Stančáková, Alena A; Sternfeld, Barbara B; Swift, Amy J AJ; Tammelin, Tuija T; Tan, Sian-Tsung ST; Thorand, Barbara B; Thuillier, Dorothée D; Vandenput, Liesbeth L; Vestergaard, Henrik H; van Vliet-Ostaptchouk, Jana V JV; Vohl, Marie-Claude MC; Völker, Uwe U; Waeber, Gérard G; Walker, Mark M; Wild, Sarah S; Wong, Andrew A; Wright, Alan F AF; Zillikens, M Carola MC; Zubair, Niha N; Haiman, Christopher A CA; Lemarchand, Loic L; Gyllensten, Ulf U; Ohlsson, Claes C; Hofman, Albert A; Rivadeneira, Fernando F; Uitterlinden, André G AG; Pérusse, Louis L; Wilson, James F JF; Hayward, Caroline C; Polasek, Ozren O; Cucca, Francesco F; Hveem, Kristian K; Hartman, Catharina A CA; Tönjes, Anke A; Bandinelli, Stefania S; Palmer, Lyle J LJ; Kardia, Sharon L R SLR; Rauramaa, Rainer R; Sørensen, Thorkild I A TIA; Tuomilehto, Jaakko J; Salomaa, Veikko V; Penninx, Brenda W J H BWJH; de Geus, Eco J C EJC; Boomsma, Dorret I DI; Lehtimäki, Terho T; Mangino, Massimo M; Laakso, Markku M; Bouchard, Claude C; Martin, Nicholas G NG; Kuh, Diana D; Liu, Yongmei Y; Linneberg, Allan A; März, Winfried W; Strauch, Konstantin K; Kivimäki, Mika M; Harris, Tamara B TB; Gudnason, Vilmundur V; Völzke, Henry H; Qi, Lu L; Järvelin, Marjo-Riitta MR; Chambers, John C JC; Kooner, Jaspal S JS; Froguel, Philippe P; Kooperberg, Charles C; Vollenweider, Peter P; Hallmans, Göran G; Hansen, Torben T; Pedersen, Oluf O; Metspalu, Andres A; Wareham, Nicholas J NJ; Langenberg, Claudia C; Weir, David R DR; Porteous, David J DJ; Boerwinkle, Eric E; Chasman, Daniel I DI; , ; , ; , ; Abecasis, Gonçalo R GR; Barroso, Inês I; McCarthy, Mark I MI; Frayling, Timothy M TM; O'Connell, Jeffrey R JR; van Duijn, Cornelia M CM; Boehnke, Michael M; Heid, Iris M IM; Mohlke, Karen L KL; Strachan, David P DP; Fox, Caroline S CS; Liu, Ching-Ti CT; Hirschhorn, Joel N JN; Klein, Robert J RJ; Johnson, Andrew D AD; Borecki, Ingrid B IB; Franks, Paul W PW; North, Kari E KE; Cupples, L Adrienne LA; Loos, Ruth J F RJF; Kilpeläinen, Tuomas O TO
Publication Date: 2017-04

Variant appearance in text: rs6976930
PubMed Link: 28448500
Variant Present in the following documents:
  • Main text
  • pgen.1006528.pdf
View BVdb publication page



Small dense low-density lipoprotein-cholesterol concentrations predict risk for coronary heart disease: the Atherosclerosis Risk In Communities (ARIC) study.

Arteriosclerosis, Thrombosis, And Vascular Biology
Hoogeveen, Ron C RC; Gaubatz, John W JW; Sun, Wensheng W; Dodge, Rhiannon C RC; Crosby, Jacy R JR; Jiang, Jennifer J; Couper, David D; Virani, Salim S SS; Kathiresan, Sekar S; Boerwinkle, Eric E; Ballantyne, Christie M CM
Publication Date: 2014-05

Variant appearance in text: rs6976930
PubMed Link: 24558110
Variant Present in the following documents:
  • Main text
View BVdb publication page