IRF5 c.195+1754T>C

Variant ID: 7-128584084-T-C

NM_001098629.1(IRF5):c.195+1754T>C

This variant was identified in 10 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: rs7808907
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: rs7808907
PubMed Link: 28658209
Variant Present in the following documents:
  • NIHMS72714-supplement-Supplementary_Table_1.xlsx, sheet 2
View BVdb publication page



Synthesis of 53 tissue and cell line expression QTL datasets reveals master eQTLs.

Bmc Genomics
Zhang, Xiaoling X; Gierman, Hinco J HJ; Levy, Daniel D; Plump, Andrew A; Dobrin, Radu R; Goring, Harald H H HH; Curran, Joanne E JE; Johnson, Matthew P MP; Blangero, John J; Kim, Stuart K SK; O'Donnell, Christopher J CJ; Emilsson, Valur V; Johnson, Andrew D AD
Publication Date: 2014-06-27

Variant appearance in text: rs7808907
PubMed Link: 24973796
Variant Present in the following documents:
  • Main text
View BVdb publication page



GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

Genes And Immunity
Armstrong, D L DL; Zidovetzki, R R; Alarcón-Riquelme, M E ME; Tsao, B P BP; Criswell, L A LA; Kimberly, R P RP; Harley, J B JB; Sivils, K L KL; Vyse, T J TJ; Gaffney, P M PM; Langefeld, C D CD; Jacob, C O CO
Publication Date: 2014-09

Variant appearance in text: rs7808907
PubMed Link: 24871463
Variant Present in the following documents:
  • NIHMS583203-supplement-1.pdf
View BVdb publication page



Human cardiovascular disease IBC chip-wide association with weight loss and weight regain in the look AHEAD trial.

Human Heredity
McCaffery, Jeanne M JM; Papandonatos, George D GD; Huggins, Gordon S GS; Peter, Inga I; Erar, Bahar B; Kahn, Steven E SE; Knowler, William C WC; Lipkin, Edward W EW; Kitabchi, Abbas E AE; Wagenknecht, Lynne E LE; Wing, Rena R RR; , ; ,
Publication Date: 2013

Variant appearance in text: rs7808907
PubMed Link: 24081232
Variant Present in the following documents:
  • Main text
View BVdb publication page



IRF5 risk polymorphisms contribute to interindividual variance in pattern recognition receptor-mediated cytokine secretion in human monocyte-derived cells.

Journal Of Immunology (Baltimore, Md. : 1950)
Hedl, Matija M; Abraham, Clara C
Publication Date: 2012-06-01

Variant appearance in text: rs7808907
PubMed Link: 22544929
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of CSK as a systemic sclerosis genetic risk factor through Genome Wide Association Study follow-up.

Human Molecular Genetics
Martin, Jose-Ezequiel JE; Broen, Jasper C JC; Carmona, F David FD; Teruel, Maria M; Simeon, Carmen P CP; Vonk, Madelon C MC; van 't Slot, Ruben R; Rodriguez-Rodriguez, Luis L; Vicente, Esther E; Fonollosa, Vicente V; Ortego-Centeno, Norberto N; González-Gay, Miguel A MA; García-Hernández, Francisco J FJ; de la Peña, Paloma García PG; Carreira, Patricia P; , ; Voskuyl, Alexandre E AE; Schuerwegh, Annemie J AJ; van Riel, Piet L C M PL; Kreuter, Alexander A; Witte, Torsten T; Riemekasten, Gabriella G; Airo, Paolo P; Scorza, Raffaella R; Lunardi, Claudio C; Hunzelmann, Nicolas N; Distler, Jörg H W JH; Beretta, Lorenzo L; van Laar, Jacob J; Chee, Meng May MM; Worthington, Jane J; Herrick, Ariane A; Denton, Christopher C; Tan, Filemon K FK; Arnett, Frank C FC; Assassi, Shervin S; Fonseca, Carmen C; Mayes, Maureen D MD; Radstake, Timothy R D J TR; Koeleman, Bobby P C BP; Martin, Javier J
Publication Date: 2012-06-15

Variant appearance in text: rs7808907
PubMed Link: 22407130
Variant Present in the following documents:
  • Main text
View BVdb publication page



A two-marker haplotype in the IRF5 gene is associated with inflammatory bowel disease in a North American cohort.

Genes And Immunity
Gathungu, G G; Zhang, C K CK; Zhang, W W; Cho, J H JH
Publication Date: 2012-06

Variant appearance in text: rs7808907
PubMed Link: 22257839
Variant Present in the following documents:
  • Main text
View BVdb publication page



Association of IRF5 polymorphisms with activation of the interferon alpha pathway.

Annals Of The Rheumatic Diseases
Rullo, Ornella J OJ; Woo, Jennifer M P JM; Wu, Hui H; Hoftman, Alice D C AD; Maranian, Paul P; Brahn, Brittany A BA; McCurdy, Deborah D; Cantor, Rita M RM; Tsao, Betty P BP
Publication Date: 2010-03

Variant appearance in text: rs7808907
PubMed Link: 19854706
Variant Present in the following documents:
  • Main text
View BVdb publication page



Complex nature of SNP genotype effects on gene expression in primary human leucocytes.

Bmc Medical Genomics
Heap, Graham A GA; Trynka, Gosia G; Jansen, Ritsert C RC; Bruinenberg, Marcel M; Swertz, Morris A MA; Dinesen, Lotte C LC; Hunt, Karen A KA; Wijmenga, Cisca C; Vanheel, David A DA; Franke, Lude L
Publication Date: 2009-01-07

Variant appearance in text: rs7808907
PubMed Link: 19128478
Variant Present in the following documents:
  • Main text
  • 1755-8794-2-1.pdf
View BVdb publication page