SLC22A5 c.1052+616T>A

Variant ID: 5-131725329-T-A

NM_003060.3(SLC22A5):c.1052+616T>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs.

Jci Insight
Chen, Xiao-Feng XF; Guo, Ming-Rui MR; Duan, Yuan-Yuan YY; Jiang, Feng F; Wu, Hao H; Dong, Shan-Shan SS; Zhou, Xiao-Rong XR; Thynn, Hlaing Nwe HN; Liu, Cong-Cong CC; Zhang, Lin L; Guo, Yan Y; Yang, Tie-Lin TL
Publication Date: 2020-09-03

Variant appearance in text: rs11748193
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases.

Science Advances
Klarić, Lucija L; Tsepilov, Yakov A YA; Stanton, Chloe M CM; Mangino, Massimo M; Sikka, Timo Tõnis TT; Esko, Tõnu T; Pakhomov, Eugene E; Salo, Perttu P; Deelen, Joris J; McGurnaghan, Stuart J SJ; Keser, Toma T; Vučković, Frano F; Ugrina, Ivo I; Krištić, Jasminka J; Gudelj, Ivan I; Štambuk, Jerko J; Plomp, Rosina R; Pučić-Baković, Maja M; Pavić, Tamara T; Vilaj, Marija M; Trbojević-Akmačić, Irena I; Drake, Camilla C; Dobrinić, Paula P; Mlinarec, Jelena J; Jelušić, Barbara B; Richmond, Anne A; Timofeeva, Maria M; Grishchenko, Alexander K AK; Dmitrieva, Julia J; Bermingham, Mairead L ML; Sharapov, Sodbo Zh SZ; Farrington, Susan M SM; Theodoratou, Evropi E; Uh, Hae-Won HW; Beekman, Marian M; Slagboom, Eline P EP; Louis, Edouard E; Georges, Michel M; Wuhrer, Manfred M; Colhoun, Helen M HM; Dunlop, Malcolm G MG; Perola, Markus M; Fischer, Krista K; Polasek, Ozren O; Campbell, Harry H; Rudan, Igor I; Wilson, James F JF; Zoldoš, Vlatka V; Vitart, Veronique V; Spector, Tim T; Aulchenko, Yurii S YS; Lauc, Gordan G; Hayward, Caroline C
Publication Date: 2020-02

Variant appearance in text: rs11748193
PubMed Link: 32128391
Variant Present in the following documents:
  • Main text
  • aax0301.pdf
View BVdb publication page



Natural Selection and Functional Potentials of Human Noncoding Elements Revealed by Analysis of Next Generation Sequencing Data.

Plos One
Jha, Pankaj P; Lu, Dongsheng D; Xu, Shuhua S
Publication Date: 2015

Variant appearance in text: rs11748193
PubMed Link: 26053627
Variant Present in the following documents:
  • Main text
  • pone.0129023.pdf
View BVdb publication page