KCNK3 c.-120G>T

Variant ID: 2-26915624-G-T

NM_002246.2(KCNK3):c.-120G>T

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Stroke genetics informs drug discovery and risk prediction across ancestries.

Nature
Mishra, Aniket A; Malik, Rainer R; Hachiya, Tsuyoshi T; Jürgenson, Tuuli T; Namba, Shinichi S; Posner, Daniel C DC; Kamanu, Frederick K FK; Koido, Masaru M; Le Grand, Quentin Q; Shi, Mingyang M; He, Yunye Y; Georgakis, Marios K MK; Caro, Ilana I; Krebs, Kristi K; Liaw, Yi-Ching YC; Vaura, Felix C FC; Lin, Kuang K; Winsvold, Bendik Slagsvold BS; Srinivasasainagendra, Vinodh V; Parodi, Livia L; Bae, Hee-Joon HJ; Chauhan, Ganesh G; Chong, Michael R MR; Tomppo, Liisa L; Akinyemi, Rufus R; Roshchupkin, Gennady V GV; Habib, Naomi N; Jee, Yon Ho YH; Thomassen, Jesper Qvist JQ; Abedi, Vida V; Cárcel-Márquez, Jara J; Nygaard, Marianne M; Leonard, Hampton L HL; Yang, Chaojie C; Yonova-Doing, Ekaterina E; Knol, Maria J MJ; Lewis, Adam J AJ; Judy, Renae L RL; Ago, Tetsuro T; Amouyel, Philippe P; Armstrong, Nicole D ND; Bakker, Mark K MK; Bartz, Traci M TM; Bennett, David A DA; Bis, Joshua C JC; Bordes, Constance C; Børte, Sigrid S; Cain, Anael A; Ridker, Paul M PM; Cho, Kelly K; Chen, Zhengming Z; Cruchaga, Carlos C; Cole, John W JW; de Jager, Phil L PL; de Cid, Rafael R; Endres, Matthias M; Ferreira, Leslie E LE; Geerlings, Mirjam I MI; Gasca, Natalie C NC; Gudnason, Vilmundur V; Hata, Jun J; He, Jing J; Heath, Alicia K AK; Ho, Yuk-Lam YL; Havulinna, Aki S AS; Hopewell, Jemma C JC; Hyacinth, Hyacinth I HI; Inouye, Michael M; Jacob, Mina A MA; Jeon, Christina E CE; Jern, Christina C; Kamouchi, Masahiro M; Keene, Keith L KL; Kitazono, Takanari T; Kittner, Steven J SJ; Konuma, Takahiro T; Kumar, Amit A; Lacaze, Paul P; Launer, Lenore J LJ; Lee, Keon-Joo KJ; Lepik, Kaido K; Li, Jiang J; Li, Liming L; Manichaikul, Ani A; Markus, Hugh S HS; Marston, Nicholas A NA; Meitinger, Thomas T; Mitchell, Braxton D BD; Montellano, Felipe A FA; Morisaki, Takayuki T; Mosley, Thomas H TH; Nalls, Mike A MA; Nordestgaard, Børge G BG; O'Donnell, Martin J MJ; Okada, Yukinori Y; Onland-Moret, N Charlotte NC; Ovbiagele, Bruce B; Peters, Annette A; Psaty, Bruce M BM; Rich, Stephen S SS; Rosand, Jonathan J; Sabatine, Marc S MS; Sacco, Ralph L RL; Saleheen, Danish D; Sandset, Else Charlotte EC; Salomaa, Veikko V; Sargurupremraj, Muralidharan M; Sasaki, Makoto M; Satizabal, Claudia L CL; Schmidt, Carsten O CO; Shimizu, Atsushi A; Smith, Nicholas L NL; Sloane, Kelly L KL; Sutoh, Yoichi Y; Sun, Yan V YV; Tanno, Kozo K; Tiedt, Steffen S; Tatlisumak, Turgut T; Torres-Aguila, Nuria P NP; Tiwari, Hemant K HK; Trégouët, David-Alexandre DA; Trompet, Stella S; Tuladhar, Anil Man AM; Tybjærg-Hansen, Anne A; van Vugt, Marion M; Vibo, Riina R; Verma, Shefali S SS; Wiggins, Kerri L KL; Wennberg, Patrik P; Woo, Daniel D; Wilson, Peter W F PWF; Xu, Huichun H; Yang, Qiong Q; Yoon, Kyungheon K; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Millwood, Iona Y IY; Gieger, Christian C; Ninomiya, Toshiharu T; Grabe, Hans J HJ; Jukema, J Wouter JW; Rissanen, Ina L IL; Strbian, Daniel D; Kim, Young Jin YJ; Chen, Pei-Hsin PH; Mayerhofer, Ernst E; Howson, Joanna M M JMM; Irvin, Marguerite R MR; Adams, Hieab H; Wassertheil-Smoller, Sylvia S; Christensen, Kaare K; Ikram, Mohammad A MA; Rundek, Tatjana T; Worrall, Bradford B BB; Lathrop, G Mark GM; Riaz, Moeen M; Simonsick, Eleanor M EM; Kõrv, Janika J; França, Paulo H C PHC; Zand, Ramin R; Prasad, Kameshwar K; Frikke-Schmidt, Ruth R; de Leeuw, Frank-Erik FE; Liman, Thomas T; Haeusler, Karl Georg KG; Ruigrok, Ynte M YM; Heuschmann, Peter Ulrich PU; Longstreth, W T WT; Jung, Keum Ji KJ; Bastarache, Lisa L; Paré, Guillaume G; Damrauer, Scott M SM; Chasman, Daniel I DI; Rotter, Jerome I JI; Anderson, Christopher D CD; Zwart, John-Anker JA; Niiranen, Teemu J TJ; Fornage, Myriam M; Liaw, Yung-Po YP; Seshadri, Sudha S; Fernández-Cadenas, Israel I; Walters, Robin G RG; Ruff, Christian T CT; Owolabi, Mayowa O MO; Huffman, Jennifer E JE; Milani, Lili L; Kamatani, Yoichiro Y; Dichgans, Martin M; Debette, Stephanie S
Publication Date: 2022-11

Variant appearance in text: rs12476527
PubMed Link: 36180795
Variant Present in the following documents:
  • Main text
  • 41586_2022_Article_5165.pdf
View BVdb publication page



Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?

Genes
Ekkert, Aleksandra A; Šliachtenko, Aleksandra A; Grigaitė, Julija J; Burnytė, Birutė B; Utkus, Algirdas A; Jatužis, Dalius D
Publication Date: 2021-12-24

Variant appearance in text: rs12476527
PubMed Link: 35052389
Variant Present in the following documents:
  • Main text
  • genes-13-00048.pdf
View BVdb publication page



Ischemic Stroke Genetics: What Is New and How to Apply It in Clinical Practice?

Genes
Ekkert, Aleksandra A; Šliachtenko, Aleksandra A; Grigaitė, Julija J; Burnytė, Birutė B; Utkus, Algirdas A; Jatužis, Dalius D
Publication Date: 2021-12-24

Variant appearance in text: rs12476527
PubMed Link: 35052389
Variant Present in the following documents:
  • Main text
  • genes-13-00048.pdf
View BVdb publication page



Heritability for stroke: Essential for taking family history.

Caspian Journal Of Internal Medicine
Pourasgari, Masoumeh M; Mohamadkhani, Ashraf A
Publication Date: 2020-05

Variant appearance in text: rs12476527
PubMed Link: 32874429
Variant Present in the following documents:
  • Main text
View BVdb publication page



Stroke and Alzheimer's Disease: A Mendelian Randomization Study.

Frontiers In Genetics
Wang, Tao T; Ni, Qing-Bin QB; Wang, Kun K; Han, Zhifa Z; Sun, Bao-Liang BL
Publication Date: 2020

Variant appearance in text: rs12476527
PubMed Link: 32760421
Variant Present in the following documents:
  • Main text
  • fgene-11-00581.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs12476527
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 3
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: KCNK3: -120G>T; rs12476527
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

Nature Genetics
Malik, Rainer R; Chauhan, Ganesh G; Traylor, Matthew M; Sargurupremraj, Muralidharan M; Okada, Yukinori Y; Mishra, Aniket A; Rutten-Jacobs, Loes L; Giese, Anne-Katrin AK; van der Laan, Sander W SW; Gretarsdottir, Solveig S; Anderson, Christopher D CD; Chong, Michael M; Adams, Hieab H H HHH; Ago, Tetsuro T; Almgren, Peter P; Amouyel, Philippe P; Ay, Hakan H; Bartz, Traci M TM; Benavente, Oscar R OR; Bevan, Steve S; Boncoraglio, Giorgio B GB; Brown, Robert D RD; Butterworth, Adam S AS; Carrera, Caty C; Carty, Cara L CL; Chasman, Daniel I DI; Chen, Wei-Min WM; Cole, John W JW; Correa, Adolfo A; Cotlarciuc, Ioana I; Cruchaga, Carlos C; Danesh, John J; de Bakker, Paul I W PIW; DeStefano, Anita L AL; den Hoed, Marcel M; Duan, Qing Q; Engelter, Stefan T ST; Falcone, Guido J GJ; Gottesman, Rebecca F RF; Grewal, Raji P RP; Gudnason, Vilmundur V; Gustafsson, Stefan S; Haessler, Jeffrey J; Harris, Tamara B TB; Hassan, Ahamad A; Havulinna, Aki S AS; Heckbert, Susan R SR; Holliday, Elizabeth G EG; Howard, George G; Hsu, Fang-Chi FC; Hyacinth, Hyacinth I HI; Ikram, M Arfan MA; Ingelsson, Erik E; Irvin, Marguerite R MR; Jian, Xueqiu X; Jiménez-Conde, Jordi J; Johnson, Julie A JA; Jukema, J Wouter JW; Kanai, Masahiro M; Keene, Keith L KL; Kissela, Brett M BM; Kleindorfer, Dawn O DO; Kooperberg, Charles C; Kubo, Michiaki M; Lange, Leslie A LA; Langefeld, Carl D CD; Langenberg, Claudia C; Launer, Lenore J LJ; Lee, Jin-Moo JM; Lemmens, Robin R; Leys, Didier D; Lewis, Cathryn M CM; Lin, Wei-Yu WY; Lindgren, Arne G AG; Lorentzen, Erik E; Magnusson, Patrik K PK; Maguire, Jane J; Manichaikul, Ani A; McArdle, Patrick F PF; Meschia, James F JF; Mitchell, Braxton D BD; Mosley, Thomas H TH; Nalls, Michael A MA; Ninomiya, Toshiharu T; O'Donnell, Martin J MJ; Psaty, Bruce M BM; Pulit, Sara L SL; Rannikmäe, Kristiina K; Reiner, Alexander P AP; Rexrode, Kathryn M KM; Rice, Kenneth K; Rich, Stephen S SS; Ridker, Paul M PM; Rost, Natalia S NS; Rothwell, Peter M PM; Rotter, Jerome I JI; Rundek, Tatjana T; Sacco, Ralph L RL; Sakaue, Saori S; Sale, Michele M MM; Salomaa, Veikko V; Sapkota, Bishwa R BR; Schmidt, Reinhold R; Schmidt, Carsten O CO; Schminke, Ulf U; Sharma, Pankaj P; Slowik, Agnieszka A; Sudlow, Cathie L M CLM; Tanislav, Christian C; Tatlisumak, Turgut T; Taylor, Kent D KD; Thijs, Vincent N S VNS; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Tiedt, Steffen S; Trompet, Stella S; Tzourio, Christophe C; van Duijn, Cornelia M CM; Walters, Matthew M; Wareham, Nicholas J NJ; Wassertheil-Smoller, Sylvia S; Wilson, James G JG; Wiggins, Kerri L KL; Yang, Qiong Q; Yusuf, Salim S; , ; , ; , ; , ; , ; Bis, Joshua C JC; Pastinen, Tomi T; Ruusalepp, Arno A; Schadt, Eric E EE; Koplev, Simon S; Björkegren, Johan L M JLM; Codoni, Veronica V; Civelek, Mete M; Smith, Nicholas L NL; Trégouët, David A DA; Christophersen, Ingrid E IE; Roselli, Carolina C; Lubitz, Steven A SA; Ellinor, Patrick T PT; Tai, E Shyong ES; Kooner, Jaspal S JS; Kato, Norihiro N; He, Jiang J; van der Harst, Pim P; Elliott, Paul P; Chambers, John C JC; Takeuchi, Fumihiko F; Johnson, Andrew D AD; , ; , ; , ; , ; , ; , ; , ; , ; , ; , ; Sanghera, Dharambir K DK; Melander, Olle O; Jern, Christina C; Strbian, Daniel D; Fernandez-Cadenas, Israel I; Longstreth, W T WT; Rolfs, Arndt A; Hata, Jun J; Woo, Daniel D; Rosand, Jonathan J; Pare, Guillaume G; Hopewell, Jemma C JC; Saleheen, Danish D; Stefansson, Kari K; Worrall, Bradford B BB; Kittner, Steven J SJ; Seshadri, Sudha S; Fornage, Myriam M; Markus, Hugh S HS; Howson, Joanna M M JMM; Kamatani, Yoichiro Y; Debette, Stephanie S; Dichgans, Martin M
Publication Date: 2018-04

Variant appearance in text: rs12476527
PubMed Link: 29531354
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variant Discovery and Fine Mapping of Genetic Loci Associated with Blood Pressure Traits in Hispanics and African Americans.

Plos One
Franceschini, Nora N; Carty, Cara L CL; Lu, Yingchang Y; Tao, Ran R; Sung, Yun Ju YJ; Manichaikul, Ani A; Haessler, Jeff J; Fornage, Myriam M; Schwander, Karen K; Zubair, Niha N; Bien, Stephanie S; Hindorff, Lucia A LA; Guo, Xiuqing X; Bielinski, Suzette J SJ; Ehret, Georg G; Kaufman, Joel D JD; Rich, Stephen S SS; Carlson, Christopher S CS; Bottinger, Erwin P EP; North, Kari E KE; Rao, D C DC; Chakravarti, Aravinda A; Barrett, Paula Q PQ; Loos, Ruth J F RJ; Buyske, Steven S; Kooperberg, Charles C
Publication Date: 2016

Variant appearance in text: rs12476527
PubMed Link: 27736895
Variant Present in the following documents:
  • Main text
  • pone.0164132.pdf
View BVdb publication page