G6PC c.340+188A>G

Variant ID: 17-41056245-A-G

NM_000151.3(G6PC):c.340+188A>G

This variant was identified in 9 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: rs2593595
PubMed Link: 35464866
Variant Present in the following documents:
  • Main text
  • fgene-13-830445.pdf
View BVdb publication page



Polymorphisms analysis for association between ADIPO signaling pathway and genetic susceptibility to T2DM in Chinese han population.

Adipocyte
Yu, Haibing H; Hu, Wei W; Lin, Chunwen C; Xu, Lin L; Liu, Hao H; Luo, Ling L; Chen, Rong R; Huang, Jialu J; Chen, Weiying W; Yang, Chen C; Kong, Danli D; Ding, Yuanlin Y
Publication Date: 2021-12

Variant appearance in text: rs2593595
PubMed Link: 34641739
Variant Present in the following documents:
  • Main text
  • KADI_10_1978728.pdf
View BVdb publication page



Pushing the Boundaries: Forensic DNA Phenotyping Challenged by Single-Cell Sequencing.

Genes
Diepenbroek, Marta M; Bayer, Birgit B; Anslinger, Katja K
Publication Date: 2021-08-30

Variant appearance in text: rs2593595
PubMed Link: 34573344
Variant Present in the following documents:
  • genes-12-01362.pdf
View BVdb publication page



DCDC2 READ1 regulatory element: how temporal processing differences may shape language.

Proceedings. Biological Sciences
Tang, Kevin K; DeMille, Mellissa M C MMC; Frijters, Jan C JC; Gruen, Jeffrey R JR
Publication Date: 2020-06-10

Variant appearance in text: rs2593595
PubMed Link: 32486976
Variant Present in the following documents:
  • rspb20192712supp1.pdf
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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: G6PC: 340+188A>G; rs2593595
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
View BVdb publication page



Common variants in Mendelian kidney disease genes and their association with renal function.

Journal Of The American Society Of Nephrology : Jasn
Parsa, Afshin A; Fuchsberger, Christian C; Köttgen, Anna A; O'Seaghdha, Conall M CM; Pattaro, Cristian C; de Andrade, Mariza M; Chasman, Daniel I DI; Teumer, Alexander A; Endlich, Karlhans K; Olden, Matthias M; Chen, Ming-Huei MH; Tin, Adrienne A; Kim, Young J YJ; Taliun, Daniel D; Li, Man M; Feitosa, Mary M; Gorski, Mathias M; Yang, Qiong Q; Hundertmark, Claudia C; Foster, Meredith C MC; Glazer, Nicole N; Isaacs, Aaron A; Rao, Madhumathi M; Smith, Albert V AV; O'Connell, Jeffrey R JR; Struchalin, Maksim M; Tanaka, Toshiko T; Li, Guo G; Hwang, Shih-Jen SJ; Atkinson, Elizabeth J EJ; Lohman, Kurt K; Cornelis, Marilyn C MC; Johansson, Asa A; Tönjes, Anke A; Dehghan, Abbas A; Couraki, Vincent V; Holliday, Elizabeth G EG; Sorice, Rossella R; Kutalik, Zoltan Z; Lehtimäki, Terho T; Esko, Tõnu T; Deshmukh, Harshal H; Ulivi, Sheila S; Chu, Audrey Y AY; Murgia, Federico F; Trompet, Stella S; Imboden, Medea M; Kollerits, Barbara B; Pistis, Giorgio G; Harris, Tamara B TB; Launer, Lenore J LJ; Aspelund, Thor T; Eiriksdottir, Gudny G; Mitchell, Braxton D BD; Boerwinkle, Eric E; Schmidt, Helena H; Hofer, Edith E; Hu, Frank F; Demirkan, Ayse A; Oostra, Ben A BA; Turner, Stephen T ST; Ding, Jingzhong J; Andrews, Jeanette S JS; Freedman, Barry I BI; Giulianini, Franco F; Koenig, Wolfgang W; Illig, Thomas T; Döring, Angela A; Wichmann, H-Erich HE; Zgaga, Lina L; Zemunik, Tatijana T; Boban, Mladen M; Minelli, Cosetta C; Wheeler, Heather E HE; Igl, Wilmar W; Zaboli, Ghazal G; Wild, Sarah H SH; Wright, Alan F AF; Campbell, Harry H; Ellinghaus, David D; Nöthlings, Ute U; Jacobs, Gunnar G; Biffar, Reiner R; Ernst, Florian F; Homuth, Georg G; Kroemer, Heyo K HK; Nauck, Matthias M; Stracke, Sylvia S; Völker, Uwe U; Völzke, Henry H; Kovacs, Peter P; Stumvoll, Michael M; Mägi, Reedik R; Hofman, Albert A; Uitterlinden, Andre G AG; Rivadeneira, Fernando F; Aulchenko, Yurii S YS; Polasek, Ozren O; Hastie, Nick N; Vitart, Veronique V; Helmer, Catherine C; Wang, Jie Jin JJ; Stengel, Bénédicte B; Ruggiero, Daniela D; Bergmann, Sven S; Kähönen, Mika M; Viikari, Jorma J; Nikopensius, Tiit T; Province, Michael M; Colhoun, Helen H; Doney, Alex A; Robino, Antonietta A; Krämer, Bernhard K BK; Portas, Laura L; Ford, Ian I; Buckley, Brendan M BM; Adam, Martin M; Thun, Gian-Andri GA; Paulweber, Bernhard B; Haun, Margot M; Sala, Cinzia C; Mitchell, Paul P; Ciullo, Marina M; Vollenweider, Peter P; Raitakari, Olli O; Metspalu, Andres A; Palmer, Colin C; Gasparini, Paolo P; Pirastu, Mario M; Jukema, J Wouter JW; Probst-Hensch, Nicole M NM; Kronenberg, Florian F; Toniolo, Daniela D; Gudnason, Vilmundur V; Shuldiner, Alan R AR; Coresh, Josef J; Schmidt, Reinhold R; Ferrucci, Luigi L; van Duijn, Cornelia M CM; Borecki, Ingrid I; Kardia, Sharon L R SL; Liu, Yongmei Y; Curhan, Gary C GC; Rudan, Igor I; Gyllensten, Ulf U; Wilson, James F JF; Franke, Andre A; Pramstaller, Peter P PP; Rettig, Rainer R; Prokopenko, Inga I; Witteman, Jacqueline J; Hayward, Caroline C; Ridker, Paul M PM; Bochud, Murielle M; Heid, Iris M IM; Siscovick, David S DS; Fox, Caroline S CS; Kao, W Linda WL; Böger, Carsten A CA
Publication Date: 2013-12

Variant appearance in text: rs2593595
PubMed Link: 24029420
Variant Present in the following documents:
  • Main text
View BVdb publication page



Inference of human continental origin and admixture proportions using a highly discriminative ancestry informative 41-SNP panel.

Investigative Genetics
Nievergelt, Caroline M CM; Maihofer, Adam X AX; Shekhtman, Tatyana T; Libiger, Ondrej O; Wang, Xudong X; Kidd, Kenneth K KK; Kidd, Judith R JR
Publication Date: 2013-07-01

Variant appearance in text: rs2593595
PubMed Link: 23815888
Variant Present in the following documents:
  • Main text
  • 2041-2223-4-13.pdf
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Capitalizing on admixture in genome-wide association studies: a two-stage testing procedure and application to height in African-Americans.

Frontiers In Genetics
Kang, Guolian G; Gao, Guimin G; Shete, Sanjay S; Redden, David T DT; Chang, Bao-Li BL; Rebbeck, Timothy R TR; Barnholtz-Sloan, Jill S JS; Pajewski, Nicholas M NM; Allison, David B DB
Publication Date: 2011

Variant appearance in text: rs2593595
PubMed Link: 21754915
Variant Present in the following documents:
  • Main text
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The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies.

Bmc Genetics
Pereira, Lutécia H Mateus LH; Pineda, Marbin A MA; Rowe, William H WH; Fonseca, Libia R LR; Greene, Mark H MH; Offit, Kenneth K; Ellis, Nathan A NA; Zhang, Jinghui J; Collins, Andrew A; Struewing, Jeffery P JP
Publication Date: 2007-10-04

Variant appearance in text: rs2593595
PubMed Link: 17916242
Variant Present in the following documents:
  • Main text
  • 1471-2156-8-68.pdf
View BVdb publication page