CYP2A6 c.493+61G>C

Variant ID: 19-41354458-C-G

NM_000762.5(CYP2A6):c.493+61G>C

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Population Pharmacokinetic and Pharmacogenetic Analysis of Mitotane in Patients with Adrenocortical Carcinoma: Towards Individualized Dosing.

Clinical Pharmacokinetics
Yin, Anyue A; Ettaieb, Madeleine H T MHT; Swen, Jesse J JJ; van Deun, Liselotte L; Kerkhofs, Thomas M A TMA; van der Straaten, Robert J H M RJHM; Corssmit, Eleonora P M EPM; Gelderblom, Hans H; Kerstens, Michiel N MN; Feelders, Richard A RA; Eekhoff, Marelise M; Timmers, Henri J L M HJLM; D'Avolio, Antonio A; Cusato, Jessica J; Guchelaar, Henk-Jan HJ; Haak, Harm R HR; Moes, Dirk Jan A R DJAR
Publication Date: 2021-01

Variant appearance in text: rs28399442
PubMed Link: 32607875
Variant Present in the following documents:
  • 40262_2020_913_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Evaluation of a weighted genetic risk score for the prediction of biomarkers of CYP2A6 activity.

Addiction Biology
El-Boraie, Ahmed A; Taghavi, Taraneh T; Chenoweth, Meghan J MJ; Fukunaga, Koya K; Mushiroda, Taisei T; Kubo, Michiaki M; Lerman, Caryn C; Nollen, Nicole L NL; Benowitz, Neal L NL; Tyndale, Rachel F RF
Publication Date: 2020-01

Variant appearance in text: rs28399442
PubMed Link: 30815984
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci.

Molecular Psychiatry
Erzurumluoglu, A Mesut AM; Liu, Mengzhen M; Jackson, Victoria E VE; Barnes, Daniel R DR; Datta, Gargi G; Melbourne, Carl A CA; Young, Robin R; Batini, Chiara C; Surendran, Praveen P; Jiang, Tao T; Adnan, Sheikh Daud SD; Afaq, Saima S; Agrawal, Arpana A; Altmaier, Elisabeth E; Antoniou, Antonis C AC; Asselbergs, Folkert W FW; Baumbach, Clemens C; Bierut, Laura L; Bertelsen, Sarah S; Boehnke, Michael M; Bots, Michiel L ML; Brazel, David M DM; Chambers, John C JC; Chang-Claude, Jenny J; Chen, Chu C; Corley, Janie J; Chou, Yi-Ling YL; David, Sean P SP; de Boer, Rudolf A RA; de Leeuw, Christiaan A CA; Dennis, Joe G JG; Dominiczak, Anna F AF; Dunning, Alison M AM; Easton, Douglas F DF; Eaton, Charles C; Elliott, Paul P; Evangelou, Evangelos E; Faul, Jessica D JD; Foroud, Tatiana T; Goate, Alison A; Gong, Jian J; Grabe, Hans J HJ; Haessler, Jeff J; Haiman, Christopher C; Hallmans, Göran G; Hammerschlag, Anke R AR; Harris, Sarah E SE; Hattersley, Andrew A; Heath, Andrew A; Hsu, Chris C; Iacono, William G WG; Kanoni, Stavroula S; Kapoor, Manav M; Kaprio, Jaakko J; Kardia, Sharon L SL; Karpe, Fredrik F; Kontto, Jukka J; Kooner, Jaspal S JS; Kooperberg, Charles C; Kuulasmaa, Kari K; Laakso, Markku M; Lai, Dongbing D; Langenberg, Claudia C; Le, Nhung N; Lettre, Guillaume G; Loukola, Anu A; Luan, Jian'an J; Madden, Pamela A F PAF; Mangino, Massimo M; Marioni, Riccardo E RE; Marouli, Eirini E; Marten, Jonathan J; Martin, Nicholas G NG; McGue, Matt M; Michailidou, Kyriaki K; Mihailov, Evelin E; Moayyeri, Alireza A; Moitry, Marie M; Müller-Nurasyid, Martina M; Naheed, Aliya A; Nauck, Matthias M; Neville, Matthew J MJ; Nielsen, Sune Fallgaard SF; North, Kari K; Perola, Markus M; Pharoah, Paul D P PDP; Pistis, Giorgio G; Polderman, Tinca J TJ; Posthuma, Danielle D; Poulter, Neil N; Qaiser, Beenish B; Rasheed, Asif A; Reiner, Alex A; Renström, Frida F; Rice, John J; Rohde, Rebecca R; Rolandsson, Olov O; Samani, Nilesh J NJ; Samuel, Maria M; Schlessinger, David D; Scholte, Steven H SH; Scott, Robert A RA; Sever, Peter P; Shao, Yaming Y; Shrine, Nick N; Smith, Jennifer A JA; Starr, John M JM; Stirrups, Kathleen K; Stram, Danielle D; Stringham, Heather M HM; Tachmazidou, Ioanna I; Tardif, Jean-Claude JC; Thompson, Deborah J DJ; Tindle, Hilary A HA; Tragante, Vinicius V; Trompet, Stella S; Turcot, Valerie V; Tyrrell, Jessica J; Vaartjes, Ilonca I; van der Leij, Andries R AR; van der Meer, Peter P; Varga, Tibor V TV; Verweij, Niek N; Völzke, Henry H; Wareham, Nicholas J NJ; Warren, Helen R HR; Weir, David R DR; Weiss, Stefan S; Wetherill, Leah L; Yaghootkar, Hanieh H; Yavas, Ersin E; Jiang, Yu Y; Chen, Fang F; Zhan, Xiaowei X; Zhang, Weihua W; Zhao, Wei W; Zhao, Wei W; Zhou, Kaixin K; Amouyel, Philippe P; Blankenberg, Stefan S; Caulfield, Mark J MJ; Chowdhury, Rajiv R; Cucca, Francesco F; Deary, Ian J IJ; Deloukas, Panos P; Di Angelantonio, Emanuele E; Ferrario, Marco M; Ferrières, Jean J; Franks, Paul W PW; Frayling, Tim M TM; Frossard, Philippe P; Hall, Ian P IP; Hayward, Caroline C; Jansson, Jan-Håkan JH; Jukema, J Wouter JW; Kee, Frank F; Männistö, Satu S; Metspalu, Andres A; Munroe, Patricia B PB; Nordestgaard, Børge Grønne BG; Palmer, Colin N A CNA; Salomaa, Veikko V; Sattar, Naveed N; Spector, Timothy T; Strachan, David Peter DP; , ; van der Harst, Pim P; Zeggini, Eleftheria E; Saleheen, Danish D; Butterworth, Adam S AS; Wain, Louise V LV; Abecasis, Goncalo R GR; Danesh, John J; Tobin, Martin D MD; Vrieze, Scott S; Liu, Dajiang J DJ; Howson, Joanna M M JMM
Publication Date: 2020-10

Variant appearance in text: rs28399442
PubMed Link: 30617275
Variant Present in the following documents:
  • Main text
View BVdb publication page



CYP2A6 metabolism in the development of smoking behaviors in young adults.

Addiction Biology
Olfson, Emily E; Bloom, Joseph J; Bertelsen, Sarah S; Budde, John P JP; Breslau, Naomi N; Brooks, Andrew A; Culverhouse, Robert R; Chan, Grace G; Chen, Li-Shiun LS; Chorlian, David D; Dick, Danielle M DM; Edenberg, Howard J HJ; Hartz, Sarah S; Hatsukami, Dorothy D; Hesselbrock, Victor M VM; Johnson, Eric O EO; Kramer, John R JR; Kuperman, Samuel S; Meyers, Jacquelyn L JL; Nurnberger, John J; Porjesz, Bernice B; Saccone, Nancy L NL; Schuckit, Marc A MA; Stitzel, Jerry J; Tischfield, Jay A JA; Rice, John P JP; Goate, Alison A; Bierut, Laura J LJ
Publication Date: 2018-01

Variant appearance in text: rs28399442
PubMed Link: 28032407
Variant Present in the following documents:
  • Main text
View BVdb publication page



Characterization of ADME gene variation in 21 populations by exome sequencing.

Pharmacogenetics And Genomics
Hovelson, Daniel H DH; Xue, Zhengyu Z; Zawistowski, Matthew M; Ehm, Margaret G MG; Harris, Elizabeth C EC; Stocker, Sophie L SL; Gross, Annette S AS; Jang, In-Jin IJ; Ieiri, Ichiro I; Lee, Jong-Eun JE; Cardon, Lon R LR; Chissoe, Stephanie L SL; Abecasis, Gonçalo G; Nelson, Matthew R MR
Publication Date: 2017-03

Variant appearance in text: rs28399442
PubMed Link: 27984508
Variant Present in the following documents:
  • fpc-27-089-s005.xlsx, sheet 2
View BVdb publication page



The Affymetrix DMET Plus platform reveals unique distribution of ADME-related variants in ethnic Arabs.

Disease Markers
Wakil, Salma M SM; Nguyen, Cao C; Muiya, Nzioka P NP; Andres, Editha E; Lykowska-Tarnowska, Agnieszka A; Baz, Batoul B; Tahir, Asma I AI; Meyer, Brian F BF; Morahan, Grant G; Dzimiri, Nduna N
Publication Date: 2015

Variant appearance in text: rs28399442
PubMed Link: 25802476
Variant Present in the following documents:
  • 542543.f1.xlsx, sheet 1
View BVdb publication page



The RPTEC/TERT1 cell line models key renal cell responses to the environmental toxicants, benzo[a]pyrene and cadmium.

Toxicology Reports
Simon, B R BR; Wilson, M J MJ; Wickliffe, J K JK
Publication Date: 2014

Variant appearance in text: rs28399442
PubMed Link: 25126521
Variant Present in the following documents:
  • mmc1.xls, sheet 1
View BVdb publication page



Beyond cigarettes per day. A genome-wide association study of the biomarker carbon monoxide.

Annals Of The American Thoracic Society
Bloom, A Joseph AJ; Hartz, Sarah M SM; Baker, Timothy B TB; Chen, Li-Shiun LS; Piper, Megan E ME; Fox, Louis L; Martinez, Maribel M; Hatsukami, Dorothy D; Johnson, Eric O EO; Laurie, Cathy C CC; Saccone, Nancy L NL; Goate, Alison A; Bierut, Laura J LJ
Publication Date: 2014-09

Variant appearance in text: rs28399442
PubMed Link: 25072098
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of a predictive model derived from in vivo endophenotype measurements to demonstrate associations with a complex locus, CYP2A6.

Human Molecular Genetics
Bloom, A Joseph AJ; Harari, Oscar O; Martinez, Maribel M; Madden, Pamela A F PA; Martin, Nicholas G NG; Montgomery, Grant W GW; Rice, John P JP; Murphy, Sharon E SE; Bierut, Laura J LJ; Goate, Alison A
Publication Date: 2012-07-01

Variant appearance in text: rs28399442
PubMed Link: 22451501
Variant Present in the following documents:
  • Main text
View BVdb publication page