PRKAG2 c.467-40471A>G

Variant ID: 7-151413194-T-C

NM_016203.3(PRKAG2):c.467-40471A>G

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs10224210
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; , ; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs10224210
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.

Nature Communications
Stanzick, Kira J KJ; Li, Yong Y; Schlosser, Pascal P; Gorski, Mathias M; Wuttke, Matthias M; Thomas, Laurent F LF; Rasheed, Humaira H; Rowan, Bryce X BX; Graham, Sarah E SE; Vanderweff, Brett R BR; Patil, Snehal B SB; , ; Robinson-Cohen, Cassiane C; Gaziano, John M JM; O'Donnell, Christopher J CJ; Willer, Cristen J CJ; Hallan, Stein S; Åsvold, Bjørn Olav BO; Gessner, Andre A; Hung, Adriana M AM; Pattaro, Cristian C; Köttgen, Anna A; Stark, Klaus J KJ; Heid, Iris M IM; Winkler, Thomas W TW
Publication Date: 2021-07-16

Variant appearance in text: rs10224210
PubMed Link: 34272381
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_24491.pdf
View BVdb publication page



Altered Enhancer and Promoter Usage Leads to Differential Gene Expression in the Normal and Failed Human Heart.

Circulation. Heart Failure
Gacita, Anthony M AM; Dellefave-Castillo, Lisa L; Page, Patrick G T PGT; Barefield, David Y DY; Wasserstrom, J Andrew JA; Puckelwartz, Megan J MJ; Nobrega, Marcelo A MA; McNally, Elizabeth M EM
Publication Date: 2020-10

Variant appearance in text: rs10224210
PubMed Link: 32993371
Variant Present in the following documents:
  • Main text
View BVdb publication page



Use of Genetic Variants Related to Antihypertensive Drugs to Inform on Efficacy and Side Effects.

Circulation
Gill, Dipender D; Georgakis, Marios K MK; Koskeridis, Fotios F; Jiang, Lan L; Feng, Qiping Q; Wei, Wei-Qi WQ; Theodoratou, Evropi E; Elliott, Paul P; Denny, Joshua C JC; Malik, Rainer R; Evangelou, Evangelos E; Dehghan, Abbas A; Dichgans, Martin M; Tzoulaki, Ioanna I
Publication Date: 2019-07-23

Variant appearance in text: rs10224210
PubMed Link: 31234639
Variant Present in the following documents:
  • cir-140-270-s001.pdf
View BVdb publication page



Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

Genome Medicine
Nagy, Reka R; Boutin, Thibaud S TS; Marten, Jonathan J; Huffman, Jennifer E JE; Kerr, Shona M SM; Campbell, Archie A; Evenden, Louise L; Gibson, Jude J; Amador, Carmen C; Howard, David M DM; Navarro, Pau P; Morris, Andrew A; Deary, Ian J IJ; Hocking, Lynne J LJ; Padmanabhan, Sandosh S; Smith, Blair H BH; Joshi, Peter P; Wilson, James F JF; Hastie, Nicholas D ND; Wright, Alan F AF; McIntosh, Andrew M AM; Porteous, David J DJ; Haley, Chris S CS; Vitart, Veronique V; Hayward, Caroline C
Publication Date: 2017-03-07

Variant appearance in text: rs10224210
PubMed Link: 28270201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study reveals a polymorphism in the podocyte receptor RANK for the decline of renal function in coronary patients.

Plos One
Leiherer, Andreas A; Muendlein, Axel A; Rein, Philipp P; Saely, Christoph H CH; Kinz, Elena E; Vonbank, Alexander A; Fraunberger, Peter P; Drexel, Heinz H
Publication Date: 2014

Variant appearance in text: rs10224210
PubMed Link: 25478860
Variant Present in the following documents:
  • Main text
  • pone.0114240.pdf
View BVdb publication page



Generalization of associations of kidney-related genetic loci to American Indians.

Clinical Journal Of The American Society Of Nephrology : Cjasn
Franceschini, Nora N; Haack, Karin K; Almasy, Laura L; Laston, Sandra S; Lee, Elisa T ET; Best, Lyle G LG; Fabsitz, Richard R RR; MacCluer, Jean W JW; Howard, Barbara V BV; Umans, Jason G JG; Cole, Shelley A SA
Publication Date: 2014-01

Variant appearance in text: rs10224210
PubMed Link: 24311711
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic association for renal traits among participants of African ancestry reveals new loci for renal function.

Plos Genetics
Liu, Ching-Ti CT; Garnaas, Maija K MK; Tin, Adrienne A; Kottgen, Anna A; Franceschini, Nora N; Peralta, Carmen A CA; de Boer, Ian H IH; Lu, Xiaoning X; Atkinson, Elizabeth E; Ding, Jingzhong J; Nalls, Michael M; Shriner, Daniel D; Coresh, Josef J; Kutlar, Abdullah A; Bibbins-Domingo, Kirsten K; Siscovick, David D; Akylbekova, Ermeg E; Wyatt, Sharon S; Astor, Brad B; Mychaleckjy, Josef J; Li, Man M; Reilly, Muredach P MP; Townsend, Raymond R RR; Adeyemo, Adebowale A; Zonderman, Alan B AB; de Andrade, Mariza M; Turner, Stephen T ST; Mosley, Thomas H TH; Harris, Tamara B TB; , ; Rotimi, Charles N CN; Liu, Yongmei Y; Kardia, Sharon L R SL; Evans, Michele K MK; Shlipak, Michael G MG; Kramer, Holly H; Flessner, Michael F MF; Dreisbach, Albert W AW; Goessling, Wolfram W; Cupples, L Adrienne LA; Kao, W Linda WL; Fox, Caroline S CS
Publication Date: 2011-09

Variant appearance in text: rs10224210
PubMed Link: 21931561
Variant Present in the following documents:
  • Main text
  • pgen.1002264.pdf
View BVdb publication page



Genetic association analysis highlights new loci that modulate hematological trait variation in Caucasians and African Americans.

Human Genetics
Lo, Ken Sin KS; Wilson, James G JG; Lange, Leslie A LA; Folsom, Aaron R AR; Galarneau, Geneviève G; Ganesh, Santhi K SK; Grant, Struan F A SF; Keating, Brendan J BJ; McCarroll, Steven A SA; Mohler, Emile R ER; O'Donnell, Christopher J CJ; Palmas, Walter W; Tang, Weihong W; Tracy, Russell P RP; Reiner, Alexander P AP; Lettre, Guillaume G
Publication Date: 2011-03

Variant appearance in text: rs10224210
PubMed Link: 21153663
Variant Present in the following documents:
  • Main text
View BVdb publication page