GCK c.45+8803A>G

Variant ID: 7-44219705-T-C

NM_000162.3(GCK):c.45+8803A>G

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Genetic Variants of Glycogen Metabolism Genes Were Associated With Liver PDFF Without Increasing NAFLD Risk.

Frontiers In Genetics
Yang, Liu L; Sun, Zewen Z; Li, Jiuling J; Pan, Xingchen X; Wen, Jianping J; Yang, Jianli J; Wang, Qing Q; Chen, Peng P
Publication Date: 2022

Variant appearance in text: rs10259649
PubMed Link: 35464866
Variant Present in the following documents:
  • Main text
  • fgene-13-830445.pdf
View BVdb publication page



Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation.

Plos Genetics
Horikoshi, Momoko M; Mӓgi, Reedik R; van de Bunt, Martijn M; Surakka, Ida I; Sarin, Antti-Pekka AP; Mahajan, Anubha A; Marullo, Letizia L; Thorleifsson, Gudmar G; Hӓgg, Sara S; Hottenga, Jouke-Jan JJ; Ladenvall, Claes C; Ried, Janina S JS; Winkler, Thomas W TW; Willems, Sara M SM; Pervjakova, Natalia N; Esko, Tõnu T; Beekman, Marian M; Nelson, Christopher P CP; Willenborg, Christina C; Wiltshire, Steven S; Ferreira, Teresa T; Fernandez, Juan J; Gaulton, Kyle J KJ; Steinthorsdottir, Valgerdur V; Hamsten, Anders A; Magnusson, Patrik K E PK; Willemsen, Gonneke G; Milaneschi, Yuri Y; Robertson, Neil R NR; Groves, Christopher J CJ; Bennett, Amanda J AJ; Lehtimӓki, Terho T; Viikari, Jorma S JS; Rung, Johan J; Lyssenko, Valeriya V; Perola, Markus M; Heid, Iris M IM; Herder, Christian C; Grallert, Harald H; Müller-Nurasyid, Martina M; Roden, Michael M; Hypponen, Elina E; Isaacs, Aaron A; van Leeuwen, Elisabeth M EM; Karssen, Lennart C LC; Mihailov, Evelin E; Houwing-Duistermaat, Jeanine J JJ; de Craen, Anton J M AJ; Deelen, Joris J; Havulinna, Aki S AS; Blades, Matthew M; Hengstenberg, Christian C; Erdmann, Jeanette J; Schunkert, Heribert H; Kaprio, Jaakko J; Tobin, Martin D MD; Samani, Nilesh J NJ; Lind, Lars L; Salomaa, Veikko V; Lindgren, Cecilia M CM; Slagboom, P Eline PE; Metspalu, Andres A; van Duijn, Cornelia M CM; Eriksson, Johan G JG; Peters, Annette A; Gieger, Christian C; Jula, Antti A; Groop, Leif L; Raitakari, Olli T OT; Power, Chris C; Penninx, Brenda W J H BW; de Geus, Eco E; Smit, Johannes H JH; Boomsma, Dorret I DI; Pedersen, Nancy L NL; Ingelsson, Erik E; Thorsteinsdottir, Unnur U; Stefansson, Kari K; Ripatti, Samuli S; Prokopenko, Inga I; McCarthy, Mark I MI; Morris, Andrew P AP; ,
Publication Date: 2015-07

Variant appearance in text: rs10259649
PubMed Link: 26132169
Variant Present in the following documents:
  • Main text
  • pgen.1005230.pdf
View BVdb publication page



Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

Theranostics
George, Doss C Priya DC; Chakraborty, Chiranjib C; Haneef, S A Syed SA; Nagasundaram, Nagarajan N; Chen, Luonan L; Zhu, Hailong H
Publication Date: 2014

Variant appearance in text: rs10259649
PubMed Link: 24578721
Variant Present in the following documents:
  • thnov04p0366s1.pdf
View BVdb publication page