KCNQ1 c.386+19406T>G

Variant ID: 11-2486120-T-G

NM_000218.2(KCNQ1):c.386+19406T>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

Scientific Reports
Méndez-Giráldez, Raúl R; Gogarten, Stephanie M SM; Below, Jennifer E JE; Yao, Jie J; Seyerle, Amanda A AA; Highland, Heather M HM; Kooperberg, Charles C; Soliman, Elsayed Z EZ; Rotter, Jerome I JI; Kerr, Kathleen F KF; Ryckman, Kelli K KK; Taylor, Kent D KD; Petty, Lauren E LE; Shah, Sanjiv J SJ; Conomos, Matthew P MP; Sotoodehnia, Nona N; Cheng, Susan S; Heckbert, Susan R SR; Sofer, Tamar T; Guo, Xiuqing X; Whitsel, Eric A EA; Lin, Henry J HJ; Hanis, Craig L CL; Laurie, Cathy C CC; Avery, Christy L CL
Publication Date: 2017-12-06

Variant appearance in text: rs16928297
PubMed Link: 29213071
Variant Present in the following documents:
  • 41598_2017_17136_MOESM1_ESM.pdf
View BVdb publication page



A common variant in SLC8A1 is associated with the duration of the electrocardiographic QT interval.

American Journal Of Human Genetics
Kim, Jong Wook JW; Hong, Kyung-Won KW; Go, Min Jin MJ; Kim, Sung Soo SS; Tabara, Yasuharu Y; Kita, Yoshikuni Y; Tanigawa, Takeshi T; Cho, Yoon Shin YS; Han, Bok-Ghee BG; Oh, Bermseok B
Publication Date: 2012-07-13

Variant appearance in text: rs16928297
PubMed Link: 22726844
Variant Present in the following documents:
  • Main text
View BVdb publication page



A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes.

Circulation. Cardiovascular Genetics
Kääb, Stefan S; Crawford, Dana C DC; Sinner, Moritz F MF; Behr, Elijah R ER; Kannankeril, Prince J PJ; Wilde, Arthur A M AA; Bezzina, Connie R CR; Schulze-Bahr, Eric E; Guicheney, Pascale P; Bishopric, Nanette H NH; Myerburg, Robert J RJ; Schott, Jean-Jacques JJ; Pfeufer, Arne A; Beckmann, Britt-Maria BM; Martens, Eimo E; Zhang, Taifang T; Stallmeyer, Birgit B; Zumhagen, Sven S; Denjoy, Isabelle I; Bardai, Abdennasser A; Van Gelder, Isabelle C IC; Jamshidi, Yalda Y; Dalageorgou, Chrysoula C; Marshall, Vanessa V; Jeffery, Steve S; Shakir, Saad S; Camm, A John AJ; Steinbeck, Gerhard G; Perz, Siegfried S; Lichtner, Peter P; Meitinger, Thomas T; Peters, Annette A; Wichmann, H-Erich HE; Ingram, Christiana C; Bradford, Yuki Y; Carter, Shannon S; Norris, Kris K; Ritchie, Marylyn D MD; George, Alfred L AL; Roden, Dan M DM
Publication Date: 2012-02-01

Variant appearance in text: rs16928297
PubMed Link: 22100668
Variant Present in the following documents:
  • Main text
View BVdb publication page