JAZF1 c.115+30533A>C

Variant ID: 7-28189549-T-G

NM_175061.3(JAZF1):c.115+30533A>C

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs1635853
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Associations of Adiposity, Circulating Protein Biomarkers, and Risk of Major Vascular Diseases.

Jama Cardiology
Pang, Yuanjie Y; Kartsonaki, Christiana C; Lv, Jun J; Fairhurst-Hunter, Zammy Z; Millwood, Iona Y IY; Yu, Canqing C; Guo, Yu Y; Chen, Yiping Y; Bian, Zheng Z; Yang, Ling L; Chen, Junshi J; Clarke, Robert R; Walters, Robin G RG; Holmes, Michael V MV; Li, Liming L; Chen, Zhengming Z
Publication Date: 2021-03-01

Variant appearance in text: rs1635853
PubMed Link: 33263724
Variant Present in the following documents:
  • jamacardiol-e206041-s001.pdf
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: rs1635853
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page



Evaluation of the genetic overlap between osteoarthritis with body mass index and height using genome-wide association scan data.

Annals Of The Rheumatic Diseases
Elliott, Katherine S KS; Chapman, Kay K; Day-Williams, Aaron A; Panoutsopoulou, Kalliope K; Southam, Lorraine L; Lindgren, Cecilia M CM; Arden, Nigel N; Aslam, Nadim N; Birrell, Fraser F; Carluke, Ian I; Carr, Andrew A; Deloukas, Panos P; Doherty, Michael M; Loughlin, John J; McCaskie, Andrew A; Ollier, William E R WE; Rai, Ashok A; Ralston, Stuart S; Reed, Mike R MR; Spector, Timothy D TD; Valdes, Ana M AM; Wallis, Gillian A GA; Wilkinson, Mark M; Zeggini, Eleftheria E; , ; ,
Publication Date: 2013-06

Variant appearance in text: rs1635853
PubMed Link: 22956599
Variant Present in the following documents:
  • Main text
  • annrheumdis-2012-202081.pdf
View BVdb publication page