COL22A1 c.-72-5691A>G

Variant ID: 8-139901178-T-C

NM_152888.1(COL22A1):c.-72-5691A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2318345
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



A meta-analysis of genome-wide data from five European isolates reveals an association of COL22A1, SYT1, and GABRR2 with serum creatinine level.

Bmc Medical Genetics
Pattaro, Cristian C; De Grandi, Alessandro A; Vitart, Veronique V; Hayward, Caroline C; Franke, Andre A; Aulchenko, Yurii S YS; Johansson, Asa A; Wild, Sarah H SH; Melville, Scott A SA; Isaacs, Aaron A; Polasek, Ozren O; Ellinghaus, David D; Kolcic, Ivana I; Nöthlings, Ute U; Zgaga, Lina L; Zemunik, Tatijana T; Gnewuch, Carsten C; Schreiber, Stefan S; Campbell, Susan S; Hastie, Nick N; Boban, Mladen M; Meitinger, Thomas T; Oostra, Ben A BA; Riegler, Peter P; Minelli, Cosetta C; Wright, Alan F AF; Campbell, Harry H; van Duijn, Cornelia M CM; Gyllensten, Ulf U; Wilson, James F JF; Krawczak, Michael M; Rudan, Igor I; Pramstaller, Peter P PP; ,
Publication Date: 2010-03-11

Variant appearance in text: rs2318345
PubMed Link: 20222955
Variant Present in the following documents:
  • Main text
  • 1471-2350-11-41.pdf
View BVdb publication page