KCNQ1 c.1794+412T>G

Variant ID: 11-2799679-T-G

NM_000218.2(KCNQ1):c.1794+412T>G

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Multi-ancestry genome-wide study in >2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications.

Medrxiv : The Preprint Server For Health Sciences
Suzuki, Ken K; Hatzikotoulas, Konstantinos K; Southam, Lorraine L; Taylor, Henry J HJ; Yin, Xianyong X; Lorenz, Kim M KM; Mandla, Ravi R; Huerta-Chagoya, Alicia A; Rayner, Nigel W NW; Bocher, Ozvan O; Ana Luiza de, S V Arruda SVA; Sonehara, Kyuto K; Namba, Shinichi S; Lee, Simon S K SSK; Preuss, Michael H MH; Petty, Lauren E LE; Schroeder, Philip P; Vanderwerff, Brett B; Kals, Mart M; Bragg, Fiona F; Lin, Kuang K; Guo, Xiuqing X; Zhang, Weihua W; Yao, Jie J; Kim, Young Jin YJ; Graff, Mariaelisa M; Takeuchi, Fumihiko F; Nano, Jana J; Lamri, Amel A; Nakatochi, Masahiro M; Moon, Sanghoon S; Scott, Robert A RA; Cook, James P JP; Lee, Jung-Jin JJ; Pan, Ian I; Taliun, Daniel D; Parra, Esteban J EJ; Chai, Jin-Fang JF; Bielak, Lawrence F LF; Tabara, Yasuharu Y; Hai, Yang Y; Thorleifsson, Gudmar G; Grarup, Niels N; Sofer, Tamar T; Wuttke, Matthias M; Sarnowski, Chloé C; Gieger, Christian C; Nousome, Darryl D; Trompet, Stella S; Kwak, Soo-Heon SH; Long, Jirong J; Sun, Meng M; Tong, Lin L; Chen, Wei-Min WM; Nongmaithem, Suraj S SS; Noordam, Raymond R; Lim, Victor J Y VJY; Tam, Claudia H T CHT; Joo, Yoonjung Yoonie YY; Chen, Chien-Hsiun CH; Raffield, Laura M LM; Prins, Bram Peter BP; Nicolas, Aude A; Yanek, Lisa R LR; Chen, Guanjie G; Brody, Jennifer A JA; Kabagambe, Edmond E; An, Ping P; Xiang, Anny H AH; Choi, Hyeok Sun HS; Cade, Brian E BE; Tan, Jingyi J; Alaine Broadaway, K K; Williamson, Alice A; Kamali, Zoha Z; Cui, Jinrui J; Adair, Linda S LS; Adeyemo, Adebowale A; Aguilar-Salinas, Carlos A CA; Ahluwalia, Tarunveer S TS; Anand, Sonia S SS; Bertoni, Alain A; Bork-Jensen, Jette J; Brandslund, Ivan I; Buchanan, Thomas A TA; Burant, Charles F CF; Butterworth, Adam S AS; Canouil, Mickaël M; Chan, Juliana C N JCN; Chang, Li-Ching LC; Chee, Miao-Li ML; Chen, Ji J; Chen, Shyh-Huei SH; Chen, Yuan-Tsong YT; Chen, Zhengming Z; Chuang, Lee-Ming LM; Cushman, Mary M; Danesh, John J; Das, Swapan K SK; Janaka de Silva, H H; Dedoussis, George G; Dimitrov, Latchezar L; Doumatey, Ayo P AP; Du, Shufa S; Duan, Qing Q; Eckardt, Kai-Uwe KU; Emery, Leslie S LS; Evans, Daniel S DS; Evans, Michele K MK; Fischer, Krista K; Floyd, James S JS; Ford, Ian I; Franco, Oscar H OH; Frayling, Timothy M TM; Freedman, Barry I BI; Genter, Pauline P; Gerstein, Hertzel C HC; Giedraitis, Vilmantas V; González-Villalpando, Clicerio C; González-Villalpando, Maria Elena ME; Gordon-Larsen, Penny P; Gross, Myron M; Guare, Lindsay A LA; Hackinger, Sophie S; Han, Sohee S; Hattersley, Andrew T AT; Herder, Christian C; Horikoshi, Momoko M; Howard, Annie-Green AG; Hsueh, Willa W; Huang, Mengna M; Huang, Wei W; Hung, Yi-Jen YJ; Hwang, Mi Yeong MY; Hwu, Chii-Min CM; Ichihara, Sahoko S; Ikram, Mohammad Arfan MA; Ingelsson, Martin M; Islam, Md Tariqul MT; Isono, Masato M; Jang, Hye-Mi HM; Jasmine, Farzana F; Jiang, Guozhi G; Jonas, Jost B JB; Jørgensen, Torben T; Kandeel, Fouad R FR; Kasturiratne, Anuradhani A; Katsuya, Tomohiro T; Kaur, Varinderpal V; Kawaguchi, Takahisa T; Keaton, Jacob M JM; Kho, Abel N AN; Khor, Chiea-Chuen CC; Kibriya, Muhammad G MG; Kim, Duk-Hwan DH; Kronenberg, Florian F; Kuusisto, Johanna J; Läll, Kristi K; Lange, Leslie A LA; Lee, Kyung Min KM; Lee, Myung-Shik MS; Lee, Nanette R NR; Leong, Aaron A; Li, Liming L; Li, Yun Y; Li-Gao, Ruifang R; Lithgart, Symen S; Lindgren, Cecilia M CM; Linneberg, Allan A; Liu, Ching-Ti CT; Liu, Jianjun J; Locke, Adam E AE; Louie, Tin T; Luan, Jian'an J; Luk, Andrea O AO; Luo, Xi X; Lv, Jun J; Lynch, Julie A JA; Lyssenko, Valeriya V; Maeda, Shiro S; Mamakou, Vasiliki V; Mansuri, Sohail Rafik SR; Matsuda, Koichi K; Meitinger, Thomas T; Metspalu, Andres A; Mo, Huan H; Morris, Andrew D AD; Nadler, Jerry L JL; Nalls, Michael A MA; Nayak, Uma U; Ntalla, Ioanna I; Okada, Yukinori Y; Orozco, Lorena L; Patel, Sanjay R SR; Patil, Snehal S; Pei, Pei P; Pereira, Mark A MA; Peters, Annette A; Pirie, Fraser J FJ; Polikowsky, Hannah G HG; Porneala, Bianca B; Prasad, Gauri G; Rasmussen-Torvik, Laura J LJ; Reiner, Alexander P AP; Roden, Michael M; Rohde, Rebecca R; Roll, Katheryn K; Sabanayagam, Charumathi C; Sandow, Kevin K; Sankareswaran, Alagu A; Sattar, Naveed N; Schönherr, Sebastian S; Shahriar, Mohammad M; Shen, Botong B; Shi, Jinxiu J; Shin, Dong Mun DM; Shojima, Nobuhiro N; Smith, Jennifer A JA; So, Wing Yee WY; Stančáková, Alena A; Steinthorsdottir, Valgerdur V; Stilp, Adrienne M AM; Strauch, Konstantin K; Taylor, Kent D KD; Thorand, Barbara B; Thorsteinsdottir, Unnur U; Tomlinson, Brian B; Tran, Tam C TC; Tsai, Fuu-Jen FJ; Tuomilehto, Jaakko J; Tusie-Luna, Teresa T; Udler, Miriam S MS; Valladares-Salgado, Adan A; van Dam, Rob M RM; van Klinken, Jan B JB; Varma, Rohit R; Wacher-Rodarte, Niels N; Wheeler, Eleanor E; Wickremasinghe, Ananda R AR; van Dijk, Ko Willems KW; Witte, Daniel R DR; Yajnik, Chittaranjan S CS; Yamamoto, Ken K; Yamamoto, Kenichi K; Yoon, Kyungheon K; Yu, Canqing C; Yuan, Jian-Min JM; Yusuf, Salim S; Zawistowski, Matthew M; Zhang, Liang L; Zheng, Wei W; , ; Project, Biobank Japan BJ; BioBank, Penn Medicine PM; Center, Regeneron Genetics RG; Consortium, eMERGE E; , ; , ; Raffel, Leslie J LJ; Igase, Michiya M; Ipp, Eli E; Redline, Susan S; Cho, Yoon Shin YS; Lind, Lars L; Province, Michael A MA; Fornage, Myriam M; Hanis, Craig L CL; Ingelsson, Erik E; Zonderman, Alan B AB; Psaty, Bruce M BM; Wang, Ya-Xing YX; Rotimi, Charles N CN; Becker, Diane M DM; Matsuda, Fumihiko F; Liu, Yongmei Y; Yokota, Mitsuhiro M; Kardia, Sharon L R SLR; Peyser, Patricia A PA; Pankow, James S JS; Engert, James C JC; Bonnefond, Amélie A; Froguel, Philippe P; Wilson, James G JG; Sheu, Wayne H H WHH; Wu, Jer-Yuarn JY; Geoffrey Hayes, M M; Ma, Ronald C W RCW; Wong, Tien-Yin TY; Mook-Kanamori, Dennis O DO; Tuomi, Tiinamaija T; Chandak, Giriraj R GR; Collins, Francis S FS; Bharadwaj, Dwaipayan D; Paré, Guillaume G; Sale, Michèle M MM; Ahsan, Habibul H; Motala, Ayesha A AA; Shu, Xiao-Ou XO; Park, Kyong-Soo KS; Jukema, J Wouter JW; Cruz, Miguel M; Chen, Yii-Der Ida YI; Rich, Stephen S SS; McKean-Cowdin, Roberta R; Grallert, Harald H; Cheng, Ching-Yu CY; Ghanbari, Mohsen M; Tai, E-Shyong ES; Dupuis, Josee J; Kato, Norihiro N; Laakso, Markku M; Köttgen, Anna A; Koh, Woon-Puay WP; Bowden, Donald W DW; Palmer, Colin N A CNA; Kooner, Jaspal S JS; Kooperberg, Charles C; Liu, Simin S; North, Kari E KE; Saleheen, Danish D; Hansen, Torben T; Pedersen, Oluf O; Wareham, Nicholas J NJ; Lee, Juyoung J; Kim, Bong-Jo BJ; Millwood, Iona Y IY; Walters, Robin G RG; Stefansson, Kari K; Goodarzi, Mark O MO; Mohlke, Karen L KL; Langenberg, Claudia C; Haiman, Christopher A CA; Loos, Ruth J F RJF; Florez, Jose C JC; Rader, Daniel J DJ; Ritchie, Marylyn D MD; Zöllner, Sebastian S; Mägi, Reedik R; Denny, Joshua C JC; Yamauchi, Toshimasa T; Kadowaki, Takashi T; Chambers, John C JC; Ng, Maggie C Y MCY; Sim, Xueling X; Below, Jennifer E JE; Tsao, Philip S PS; Chang, Kyong-Mi KM; McCarthy, Mark I MI; Meigs, James B JB; Mahajan, Anubha A; Spracklen, Cassandra N CN; Mercader, Josep M JM; Boehnke, Michael M; Rotter, Jerome I JI; Vujkovic, Marijana M; Voight, Benjamin F BF; Morris, Andrew P AP; Zeggini, Eleftheria E
Publication Date: 2023-03-31

Variant appearance in text: rs2237884
PubMed Link: 37034649
Variant Present in the following documents:
  • Main text
  • nihpp-2023.03.31.23287839v1.pdf
  • media-1.pdf
View BVdb publication page



The utility of a type 2 diabetes polygenic score in addition to clinical variables for prediction of type 2 diabetes incidence in birth, youth and adult cohorts in an Indigenous study population.

Diabetologia
Wedekind, Lauren E LE; Mahajan, Anubha A; Hsueh, Wen-Chi WC; Chen, Peng P; Olaiya, Muideen T MT; Kobes, Sayuko S; Sinha, Madhumita M; Baier, Leslie J LJ; Knowler, William C WC; McCarthy, Mark I MI; Hanson, Robert L RL
Publication Date: 2023-03-02

Variant appearance in text: rs2237884
PubMed Link: 36862161
Variant Present in the following documents:
  • 125_2023_5870_MOESM1_ESM.pdf
View BVdb publication page



Glucocorticoid receptor triggers a reversible drug-tolerant dormancy state with acquired therapeutic vulnerabilities in lung cancer.

Nature Communications
Prekovic, Stefan S; Schuurman, Karianne K; Mayayo-Peralta, Isabel I; Manjón, Anna G AG; Buijs, Mark M; Yavuz, Selçuk S; Wellenstein, Max D MD; Barrera, Alejandro A; Monkhorst, Kim K; Huber, Anne A; Morris, Ben B; Lieftink, Cor C; Chalkiadakis, Theofilos T; Alkan, Ferhat F; Silva, Joana J; Győrffy, Balázs B; Hoekman, Liesbeth L; van den Broek, Bram B; Teunissen, Hans H; Debets, Donna O DO; Severson, Tesa T; Jonkers, Jos J; Reddy, Timothy T; de Visser, Karin E KE; Faller, William W; Beijersbergen, Roderick R; Altelaar, Maarten M; de Wit, Elzo E; Medema, Rene R; Zwart, Wilbert W
Publication Date: 2021-07-16

Variant appearance in text: rs2237884
PubMed Link: 34272384
Variant Present in the following documents:
  • 41467_2021_24537_MOESM2_ESM.pdf
View BVdb publication page



Epigenetic Characterization of CDKN1C in Placenta Samples from Non-syndromic Intrauterine Growth Restriction.

Frontiers In Genetics
López-Abad, Miriam M; Iglesias-Platas, Isabel I; Monk, David D
Publication Date: 2016

Variant appearance in text: rs2237884
PubMed Link: 27200075
Variant Present in the following documents:
  • Main text
  • fgene-07-00062.pdf
View BVdb publication page