CLCN6 c.1980+392T>C

Variant ID: 1-11896602-T-C

NM_001286.3(CLCN6):c.1980+392T>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A multiple coefficient of determination-based method for parsing SNPs that correlate with mRNA expression.

Scientific Reports
Song, Fan F; Tao, Yu Y; Sun, Yue Y; Saffen, David D
Publication Date: 2019-12-27

Variant appearance in text: rs2075538
PubMed Link: 31882953
Variant Present in the following documents:
  • 41598_2019_56494_MOESM1_ESM.pdf
View BVdb publication page



Genome-wide association analysis and fine mapping of NT-proBNP level provide novel insight into the role of the MTHFR-CLCN6-NPPA-NPPB gene cluster.

Human Molecular Genetics
Del Greco M, Fabiola F; Pattaro, Cristian C; Luchner, Andreas A; Pichler, Irene I; Winkler, Thomas T; Hicks, Andrew A AA; Fuchsberger, Christian C; Franke, Andre A; Melville, Scott A SA; Peters, Annette A; Wichmann, H Erich HE; Schreiber, Stefan S; Heid, Iris M IM; Krawczak, Michael M; Minelli, Cosetta C; Wiedermann, Christian J CJ; Pramstaller, Peter P PP
Publication Date: 2011-04-15

Variant appearance in text: rs2075538
PubMed Link: 21273288
Variant Present in the following documents:
  • Main text
  • ddr035.pdf
View BVdb publication page