IRF1 c.87+598T>G

Variant ID: 5-131824486-A-C

NM_002198.2(IRF1):c.87+598T>G

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genetic variants associated with platelet count are predictive of human disease and physiological markers.

Communications Biology
Mikaelsdottir, Evgenia E; Thorleifsson, Gudmar G; Stefansdottir, Lilja L; Halldorsson, Gisli G; Sigurdsson, Jon K JK; Lund, Sigrun H SH; Tragante, Vinicius V; Melsted, Pall P; Rognvaldsson, Solvi S; Norland, Kristjan K; Helgadottir, Anna A; Magnusson, Magnus K MK; Ragnarsson, Gunnar B GB; Kristinsson, Sigurdur Y SY; Reykdal, Sigrun S; Vidarsson, Brynjar B; Gudmundsdottir, Ingibjorg J IJ; Olafsson, Isleifur I; Onundarson, Pall T PT; Sigurdardottir, Olof O; Sigurdsson, Emil L EL; Grondal, Gerdur G; Geirsson, Arni J AJ; Geirsson, Gudmundur G; Gudmundsson, Julius J; Holm, Hilma H; Saevarsdottir, Saedis S; Jonsdottir, Ingileif I; Thorgeirsson, Gudmundur G; Gudbjartsson, Daniel F DF; Thorsteinsdottir, Unnur U; Rafnar, Thorunn T; Stefansson, Kari K
Publication Date: 2021-09-27

Variant appearance in text: rs2070722
PubMed Link: 34580418
Variant Present in the following documents:
  • 42003_2021_2642_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



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: rs2070722
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Human candidate polymorphisms in sympatric ethnic groups differing in malaria susceptibility in Mali.

Plos One
Maiga, Bakary B; Dolo, Amagana A; Touré, Ousmane O; Dara, Victor V; Tapily, Amadou A; Campino, Susana S; Sepulveda, Nuno N; Risley, Paul P; Silva, Nilupa N; Silva, Nipula N; Corran, Patrick P; Rockett, Kirk A KA; Kwiatkowski, Dominic D; , ; Clark, Taane G TG; Troye-Blomberg, Marita M; Doumbo, Ogobara K OK
Publication Date: 2013

Variant appearance in text: rs2070722
PubMed Link: 24098393
Variant Present in the following documents:
  • Main text
  • pone.0075675.pdf
View BVdb publication page



Identification of a haplotype block in the 5q31 cytokine gene cluster associated with the susceptibility to severe malaria.

Malaria Journal
Naka, Izumi I; Nishida, Nao N; Patarapotikul, Jintana J; Nuchnoi, Pornlada P; Tokunaga, Katsushi K; Hananantachai, Hathairad H; Tsuchiya, Naoyuki N; Ohashi, Jun J
Publication Date: 2009-10-19

Variant appearance in text: rs2070722
PubMed Link: 19840389
Variant Present in the following documents:
  • Main text
View BVdb publication page



Lack of association of interferon regulatory factor 1 with severe malaria in affected child-parental trio studies across three African populations.

Plos One
Mangano, Valentina D VD; Clark, Taane G TG; Auburn, Sarah S; Campino, Susana S; Diakite, Mahamadou M; Fry, Andrew E AE; Green, Angela A; Richardson, Anna A; Jallow, Muminatou M; Sisay-Joof, Fatou F; Pinder, Margaret M; Griffiths, Michael J MJ; Newton, Charles C; Peshu, Norbert N; Williams, Thomas N TN; Marsh, Kevin K; Molyneux, Malcolm E ME; Taylor, Terrie E TE; Modiano, David D; Kwiatkowski, Dominic P DP; Rockett, Kirk A KA
Publication Date: 2009

Variant appearance in text: rs2070722
PubMed Link: 19145247
Variant Present in the following documents:
  • Main text
  • pone.0004206.pdf
View BVdb publication page



Interferon regulatory factor-1 polymorphisms are associated with the control of Plasmodium falciparum infection.

Genes And Immunity
Mangano, V D VD; Luoni, G G; Rockett, K A KA; Sirima, B S BS; Konaté, A A; Forton, J J; Clark, T G TG; Bancone, G G; Sadighi Akha, E E; Akha, E S ES; Kwiatkowski, D P DP; Modiano, D D
Publication Date: 2008-03

Variant appearance in text: rs2070722
PubMed Link: 18200030
Variant Present in the following documents:
  • Main text
View BVdb publication page