KCNQ1 c.1795-11764G>A

Variant ID: 11-2857233-G-A

NM_000218.2(KCNQ1):c.1795-11764G>A

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs60808706
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Association of Polygenic Variants with Type 2 Diabetes Risk and Their Interaction with Lifestyles in Asians.

Nutrients
Hur, Haeng Jeon HJ; Yang, Hye Jeong HJ; Kim, Min Jung MJ; Lee, Kyun-Hee KH; Kim, Myung-Sunny MS; Park, Sunmin S
Publication Date: 2022-08-06

Variant appearance in text: rs60808706
PubMed Link: 35956399
Variant Present in the following documents:
  • Main text
  • nutrients-14-03222.pdf
View BVdb publication page



Generation of Isogenic hiPSCs with Targeted Edits at Multiple Intronic SNPs to Study the Effects of the Type 2 Diabetes Associated KCNQ1 Locus in American Indians.

Cells
Nair, Anup K AK; Traurig, Michael M; Sutherland, Jeff R JR; Muller, Yunhua L YL; Grellinger, Emma D ED; Saporito, Lucas L; Nelson, Robert G RG; Bogardus, Clifton C; Baier, Leslie J LJ
Publication Date: 2022-04-25

Variant appearance in text: rs60808706
PubMed Link: 35563754
Variant Present in the following documents:
  • cells-11-01446.pdf
View BVdb publication page



A polygenic risk score predicts mosaic loss of chromosome Y in circulating blood cells.

Cell & Bioscience
Riaz, Moeen M; Mattisson, Jonas J; Polekhina, Galina G; Bakshi, Andrew A; Halvardson, Jonatan J; Danielsson, Marcus M; Ameur, Adam A; McNeil, John J; Forsberg, Lars A LA; Lacaze, Paul P
Publication Date: 2021-12-12

Variant appearance in text: rs60808706
PubMed Link: 34895331
Variant Present in the following documents:
  • 13578_2021_716_MOESM1_ESM.pdf
View BVdb publication page



Immune cells lacking Y chromosome show dysregulation of autosomal gene expression.

Cellular And Molecular Life Sciences : Cmls
Dumanski, Jan P JP; Halvardson, Jonatan J; Davies, Hanna H; Rychlicka-Buniowska, Edyta E; Mattisson, Jonas J; Moghadam, Behrooz Torabi BT; Nagy, Noemi N; Węglarczyk, Kazimierz K; Bukowska-Strakova, Karolina K; Danielsson, Marcus M; Olszewski, Paweł P; Piotrowski, Arkadiusz A; Oerton, Erin E; Ambicka, Aleksandra A; Przewoźnik, Marcin M; Bełch, Łukasz Ł; Grodzicki, Tomasz T; Chłosta, Piotr L PL; Imreh, Stefan S; Giedraitis, Vilmantas V; Kilander, Lena L; Nordlund, Jessica J; Ameur, Adam A; Gyllensten, Ulf U; Johansson, Åsa Å; Józkowicz, Alicja A; Siedlar, Maciej M; Klich-Rączka, Alicja A; Jaszczyński, Janusz J; Enroth, Stefan S; Baran, Jarosław J; Ingelsson, Martin M; Perry, John R B JRB; Ryś, Janusz J; Forsberg, Lars A LA
Publication Date: 2021-04

Variant appearance in text: rs60808706
PubMed Link: 33837451
Variant Present in the following documents:
  • Main text
  • 18_2021_Article_3822.pdf
View BVdb publication page



Body mass index and colorectal cancer risk: A Mendelian randomization study.

Cancer Science
Suzuki, Shiori S; Goto, Atsushi A; Nakatochi, Masahiro M; Narita, Akira A; Yamaji, Taiki T; Sawada, Norie N; Katagiri, Ryoko R; Iwagami, Masao M; Hanyuda, Akiko A; Hachiya, Tsuyoshi T; Sutoh, Yoichi Y; Oze, Isao I; Koyanagi, Yuriko N YN; Kasugai, Yumiko Y; Taniyama, Yukari Y; Ito, Hidemi H; Ikezaki, Hiroaki H; Nishida, Yuichiro Y; Tamura, Takashi T; Mikami, Haruo H; Takezaki, Toshiro T; Suzuki, Sadao S; Ozaki, Etsuko E; Kuriki, Kiyonori K; Takashima, Naoyuki N; Arisawa, Kokichi K; Takeuchi, Kenji K; Tanno, Kozo K; Shimizu, Atsushi A; Tamiya, Gen G; Hozawa, Atsushi A; Kinoshita, Kengo K; Wakai, Kenji K; Sasaki, Makoto M; Yamamoto, Masayuki M; Matsuo, Keitaro K; Tsugane, Shoichiro S; Iwasaki, Motoki M
Publication Date: 2021-04

Variant appearance in text: rs60808706
PubMed Link: 33506574
Variant Present in the following documents:
  • CAS-112-1579-s001.pdf
View BVdb publication page



Genetics of Obesity in East Asians.

Frontiers In Genetics
Sun, Chang C; Kovacs, Peter P; Guiu-Jurado, Esther E
Publication Date: 2020

Variant appearance in text: rs60808706
PubMed Link: 33193685
Variant Present in the following documents:
  • Main text
  • fgene-11-575049.pdf
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: KCNQ1: 1795-11764G>A; rs60808706
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM17_ESM.xlsx, sheet 1
View BVdb publication page



Trans-ethnic fine-mapping of genetic loci for body mass index in the diverse ancestral populations of the Population Architecture using Genomics and Epidemiology (PAGE) Study reveals evidence for multiple signals at established loci.

Human Genetics
Fernández-Rhodes, Lindsay L; Gong, Jian J; Haessler, Jeffrey J; Franceschini, Nora N; Graff, Mariaelisa M; Nishimura, Katherine K KK; Wang, Yujie Y; Highland, Heather M HM; Yoneyama, Sachiko S; Bush, William S WS; Goodloe, Robert R; Ritchie, Marylyn D MD; Crawford, Dana D; Gross, Myron M; Fornage, Myriam M; Buzkova, Petra P; Tao, Ran R; Isasi, Carmen C; Avilés-Santa, Larissa L; Daviglus, Martha M; Mackey, Rachel H RH; Houston, Denise D; Gu, C Charles CC; Ehret, Georg G; Nguyen, Khanh-Dung H KH; Lewis, Cora E CE; Leppert, Mark M; Irvin, Marguerite R MR; Lim, Unhee U; Haiman, Christopher A CA; Le Marchand, Loic L; Schumacher, Fredrick F; Wilkens, Lynne L; Lu, Yingchang Y; Bottinger, Erwin P EP; Loos, Ruth J L RJL; Sheu, Wayne H-H WH; Guo, Xiuqing X; Lee, Wen-Jane WJ; Hai, Yang Y; Hung, Yi-Jen YJ; Absher, Devin D; Wu, I-Chien IC; Taylor, Kent D KD; Lee, I-Te IT; Liu, Yeheng Y; Wang, Tzung-Dau TD; Quertermous, Thomas T; Juang, Jyh-Ming J JJ; Rotter, Jerome I JI; Assimes, Themistocles T; Hsiung, Chao A CA; Chen, Yii-Der Ida YI; Prentice, Ross R; Kuller, Lewis H LH; Manson, JoAnn E JE; Kooperberg, Charles C; Smokowski, Paul P; Robinson, Whitney R WR; Gordon-Larsen, Penny P; Li, Rongling R; Hindorff, Lucia L; Buyske, Steven S; Matise, Tara C TC; Peters, Ulrike U; North, Kari E KE
Publication Date: 2017-06

Variant appearance in text: rs60808706
PubMed Link: 28391526
Variant Present in the following documents:
  • Main text
View BVdb publication page