ELL2 c.195+5296A>T

Variant ID: 5-95273410-T-A

NM_012081.5(ELL2):c.195+5296A>T

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: rs7700895
PubMed Link: 32128391
Variant Present in the following documents:
  • Main text
  • aax0301.pdf
View BVdb publication page



Integration of VDR genome wide binding and GWAS genetic variation data reveals co-occurrence of VDR and NF-κB binding that is linked to immune phenotypes.

Bmc Genomics
Singh, Prashant K PK; van den Berg, Patrick R PR; Long, Mark D MD; Vreugdenhil, Angie A; Grieshober, Laurie L; Ochs-Balcom, Heather M HM; Wang, Jianmin J; Delcambre, Sylvie S; Heikkinen, Sami S; Carlberg, Carsten C; Campbell, Moray J MJ; Sucheston-Campbell, Lara E LE
Publication Date: 2017-02-06

Variant appearance in text: rs7700895
PubMed Link: 28166722
Variant Present in the following documents:
  • Main text
  • 12864_2017_Article_3481.pdf
View BVdb publication page