PRKAG2 c.467-41606A>T

Variant ID: 7-151414329-T-A

NM_016203.3(PRKAG2):c.467-41606A>T

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

Nature Communications
Hellwege, Jacklyn N JN; Velez Edwards, Digna R DR; Giri, Ayush A; Qiu, Chengxiang C; Park, Jihwan J; Torstenson, Eric S ES; Keaton, Jacob M JM; Wilson, O D OD; Robinson-Cohen, Cassianne C; Chung, Cecilia P CP; Roumie, Christianne L CL; Klarin, Derek D; Damrauer, Scott M SM; DuVall, Scott L SL; Siew, Edward E; Akwo, Elvis A EA; Wuttke, Matthias M; Gorski, Mathias M; Li, Man M; Li, Yong Y; Gaziano, J Michael JM; Wilson, Peter W F PWF; Tsao, Philip S PS; O'Donnell, Christopher J CJ; Kovesdy, Csaba P CP; Pattaro, Cristian C; Köttgen, Anna A; Susztak, Katalin K; Edwards, Todd L TL; Hung, Adriana M AM
Publication Date: 2019-08-26

Variant appearance in text: rs10265221
PubMed Link: 31451708
Variant Present in the following documents:
  • 41467_2019_11704_MOESM1_ESM.pdf
View BVdb publication page



Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

Nature Communications
Morris, Andrew P AP; Le, Thu H TH; Wu, Haojia H; Akbarov, Artur A; van der Most, Peter J PJ; Hemani, Gibran G; Smith, George Davey GD; Mahajan, Anubha A; Gaulton, Kyle J KJ; Nadkarni, Girish N GN; Valladares-Salgado, Adan A; Wacher-Rodarte, Niels N; Mychaleckyj, Josyf C JC; Dueker, Nicole D ND; Guo, Xiuqing X; Hai, Yang Y; Haessler, Jeffrey J; Kamatani, Yoichiro Y; Stilp, Adrienne M AM; Zhu, Gu G; Cook, James P JP; Ärnlöv, Johan J; Blanton, Susan H SH; de Borst, Martin H MH; Bottinger, Erwin P EP; Buchanan, Thomas A TA; Cechova, Sylvia S; Charchar, Fadi J FJ; Chu, Pei-Lun PL; Damman, Jeffrey J; Eales, James J; Gharavi, Ali G AG; Giedraitis, Vilmantas V; Heath, Andrew C AC; Ipp, Eli E; Kiryluk, Krzysztof K; Kramer, Holly J HJ; Kubo, Michiaki M; Larsson, Anders A; Lindgren, Cecilia M CM; Lu, Yingchang Y; Madden, Pamela A F PAF; Montgomery, Grant W GW; Papanicolaou, George J GJ; Raffel, Leslie J LJ; Sacco, Ralph L RL; Sanchez, Elena E; Stark, Holger H; Sundstrom, Johan J; Taylor, Kent D KD; Xiang, Anny H AH; Zivkovic, Aleksandra A; Lind, Lars L; Ingelsson, Erik E; Martin, Nicholas G NG; Whitfield, John B JB; Cai, Jianwen J; Laurie, Cathy C CC; Okada, Yukinori Y; Matsuda, Koichi K; Kooperberg, Charles C; Chen, Yii-Der Ida YI; Rundek, Tatjana T; Rich, Stephen S SS; Loos, Ruth J F RJF; Parra, Esteban J EJ; Cruz, Miguel M; Rotter, Jerome I JI; Snieder, Harold H; Tomaszewski, Maciej M; Humphreys, Benjamin D BD; Franceschini, Nora N
Publication Date: 2019-01-03

Variant appearance in text: rs10265221
PubMed Link: 30604766
Variant Present in the following documents:
  • 41467_2018_Article_7867.pdf
View BVdb publication page



Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution.

Human Molecular Genetics
Mägi, Reedik R; Horikoshi, Momoko M; Sofer, Tamar T; Mahajan, Anubha A; Kitajima, Hidetoshi H; Franceschini, Nora N; McCarthy, Mark I MI; , ; Morris, Andrew P AP
Publication Date: 2017-09-15

Variant appearance in text: rs10265221
PubMed Link: 28911207
Variant Present in the following documents:
  • Main text
  • ddx280.pdf
View BVdb publication page



Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity.

American Journal Of Human Genetics
Mahajan, Anubha A; Rodan, Aylin R AR; Le, Thu H TH; Gaulton, Kyle J KJ; Haessler, Jeffrey J; Stilp, Adrienne M AM; Kamatani, Yoichiro Y; Zhu, Gu G; Sofer, Tamar T; Puri, Sanjana S; Schellinger, Jeffrey N JN; Chu, Pei-Lun PL; Cechova, Sylvia S; van Zuydam, Natalie N; , ; , ; Arnlov, Johan J; Flessner, Michael F MF; Giedraitis, Vilmantas V; Heath, Andrew C AC; Kubo, Michiaki M; Larsson, Anders A; Lindgren, Cecilia M CM; Madden, Pamela A F PAF; Montgomery, Grant W GW; Papanicolaou, George J GJ; Reiner, Alex P AP; Sundström, Johan J; Thornton, Timothy A TA; Lind, Lars L; Ingelsson, Erik E; Cai, Jianwen J; Martin, Nicholas G NG; Kooperberg, Charles C; Matsuda, Koichi K; Whitfield, John B JB; Okada, Yukinori Y; Laurie, Cathy C CC; Morris, Andrew P AP; Franceschini, Nora N
Publication Date: 2016-09-01

Variant appearance in text: rs10265221
PubMed Link: 27588450
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Genome-wide study for circulating metabolites identifies 62 loci and reveals novel systemic effects of LPA.

Nature Communications
Kettunen, Johannes J; Demirkan, Ayşe A; Würtz, Peter P; Draisma, Harmen H M HH; Haller, Toomas T; Rawal, Rajesh R; Vaarhorst, Anika A; Kangas, Antti J AJ; Lyytikäinen, Leo-Pekka LP; Pirinen, Matti M; Pool, René R; Sarin, Antti-Pekka AP; Soininen, Pasi P; Tukiainen, Taru T; Wang, Qin Q; Tiainen, Mika M; Tynkkynen, Tuulia T; Amin, Najaf N; Zeller, Tanja T; Beekman, Marian M; Deelen, Joris J; van Dijk, Ko Willems KW; Esko, Tõnu T; Hottenga, Jouke-Jan JJ; van Leeuwen, Elisabeth M EM; Lehtimäki, Terho T; Mihailov, Evelin E; Rose, Richard J RJ; de Craen, Anton J M AJ; Gieger, Christian C; Kähönen, Mika M; Perola, Markus M; Blankenberg, Stefan S; Savolainen, Markku J MJ; Verhoeven, Aswin A; Viikari, Jorma J; Willemsen, Gonneke G; Boomsma, Dorret I DI; van Duijn, Cornelia M CM; Eriksson, Johan J; Jula, Antti A; Järvelin, Marjo-Riitta MR; Kaprio, Jaakko J; Metspalu, Andres A; Raitakari, Olli O; Salomaa, Veikko V; Slagboom, P Eline PE; Waldenberger, Melanie M; Ripatti, Samuli S; Ala-Korpela, Mika M
Publication Date: 2016-03-23

Variant appearance in text: rs10265221
PubMed Link: 27005778
Variant Present in the following documents:
  • ncomms11122-s1.pdf
View BVdb publication page