CDKAL1 c.287-8653T>C

Variant ID: 6-20640871-T-C

NM_017774.3(CDKAL1):c.287-8653T>C

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: rs4712520
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Fine-mapping inflammatory bowel disease loci to single-variant resolution.

Nature
Huang, Hailiang H; Fang, Ming M; Jostins, Luke L; Umićević Mirkov, Maša M; Boucher, Gabrielle G; Anderson, Carl A CA; Andersen, Vibeke V; Cleynen, Isabelle I; Cortes, Adrian A; Crins, François F; D'Amato, Mauro M; Deffontaine, Valérie V; Dmitrieva, Julia J; Docampo, Elisa E; Elansary, Mahmoud M; Farh, Kyle Kai-How KK; Franke, Andre A; Gori, Ann-Stephan AS; Goyette, Philippe P; Halfvarson, Jonas J; Haritunians, Talin T; Knight, Jo J; Lawrance, Ian C IC; Lees, Charlie W CW; Louis, Edouard E; Mariman, Rob R; Meuwissen, Theo T; Mni, Myriam M; Momozawa, Yukihide Y; Parkes, Miles M; Spain, Sarah L SL; Théâtre, Emilie E; Trynka, Gosia G; Satsangi, Jack J; van Sommeren, Suzanne S; Vermeire, Severine S; Xavier, Ramnik J RJ; , ; Weersma, Rinse K RK; Duerr, Richard H RH; Mathew, Christopher G CG; Rioux, John D JD; McGovern, Dermot P B DPB; Cho, Judy H JH; Georges, Michel M; Daly, Mark J MJ; Barrett, Jeffrey C JC
Publication Date: 2017-07-13

Variant appearance in text: rs4712520
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page



Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci.

Nature Genetics
Ellinghaus, David D; Jostins, Luke L; Spain, Sarah L SL; Cortes, Adrian A; Bethune, Jörn J; Han, Buhm B; Park, Yu Rang YR; Raychaudhuri, Soumya S; Pouget, Jennie G JG; Hübenthal, Matthias M; Folseraas, Trine T; Wang, Yunpeng Y; Esko, Tonu T; Metspalu, Andres A; Westra, Harm-Jan HJ; Franke, Lude L; Pers, Tune H TH; Weersma, Rinse K RK; Collij, Valerie V; D'Amato, Mauro M; Halfvarson, Jonas J; Jensen, Anders Boeck AB; Lieb, Wolfgang W; Degenhardt, Franziska F; Forstner, Andreas J AJ; Hofmann, Andrea A; , ; , ; , ; , ; , ; Schreiber, Stefan S; Mrowietz, Ulrich U; Juran, Brian D BD; Lazaridis, Konstantinos N KN; Brunak, Søren S; Dale, Anders M AM; Trembath, Richard C RC; Weidinger, Stephan S; Weichenthal, Michael M; Ellinghaus, Eva E; Elder, James T JT; Barker, Jonathan N W N JN; Andreassen, Ole A OA; McGovern, Dermot P DP; Karlsen, Tom H TH; Barrett, Jeffrey C JC; Parkes, Miles M; Brown, Matthew A MA; Franke, Andre A
Publication Date: 2016-05

Variant appearance in text: rs4712520
PubMed Link: 26974007
Variant Present in the following documents:
  • NIHMS762030-supplement-1.pdf
View BVdb publication page