IFIH1 c.770-4185C>T

Variant ID: 2-163154363-G-A

NM_022168.3(IFIH1):c.770-4185C>T

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Genetic predisposition in the 2'-5'A pathway in the development of type 1 diabetes: potential contribution to dysregulation of innate antiviral immunity.

Diabetologia
Pedersen, Kristina K; Haupt-Jorgensen, Martin M; Krogvold, Lars L; Kaur, Simranjeet S; Gerling, Ivan C IC; Pociot, Flemming F; Dahl-Jørgensen, Knut K; Buschard, Karsten K
Publication Date: 2021-08

Variant appearance in text: rs13023380
PubMed Link: 33973017
Variant Present in the following documents:
  • Main text
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: rs13023380
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Association of IFIH1 and pro-inflammatory mediators: Potential new clues in SLE-associated pathogenesis.

Plos One
Munroe, Melissa E ME; Pezant, Nathan N; Brown, Michael A MA; Fife, Dustin A DA; Guthridge, Joel M JM; Kelly, Jennifer A JA; Wiley, Graham G; Gaffney, Patrick M PM; James, Judith A JA; Montgomery, Courtney G CG
Publication Date: 2017

Variant appearance in text: rs13023380
PubMed Link: 28234905
Variant Present in the following documents:
  • Main text
  • pone.0171193.pdf
View BVdb publication page



Advances in lupus genetics and epigenetics.

Current Opinion In Rheumatology
Deng, Yun Y; Tsao, Betty P BP
Publication Date: 2014-09

Variant appearance in text: rs13023380
PubMed Link: 25010439
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluation of SLE Susceptibility Genes in Malaysians.

Autoimmune Diseases
Molineros, Julio E JE; Chua, Kek Heng KH; Sun, Celi C; Lian, Lay Hoong LH; Motghare, Prasenjeet P; Kim-Howard, Xana X; Nath, Swapan K SK
Publication Date: 2014

Variant appearance in text: rs13023380
PubMed Link: 24696779
Variant Present in the following documents:
  • Main text
  • AD2014-305436.pdf
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Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production.

Plos Genetics
Molineros, Julio E JE; Maiti, Amit K AK; Sun, Celi C; Looger, Loren L LL; Han, Shizhong S; Kim-Howard, Xana X; Glenn, Stuart S; Adler, Adam A; Kelly, Jennifer A JA; Niewold, Timothy B TB; Gilkeson, Gary S GS; Brown, Elizabeth E EE; Alarcón, Graciela S GS; Edberg, Jeffrey C JC; Petri, Michelle M; Ramsey-Goldman, Rosalind R; Reveille, John D JD; Vilá, Luis M LM; Freedman, Barry I BI; Tsao, Betty P BP; Criswell, Lindsey A LA; Jacob, Chaim O CO; Moore, Jason H JH; Vyse, Timothy J TJ; Langefeld, Carl L CL; Guthridge, Joel M JM; Gaffney, Patrick M PM; Moser, Kathy L KL; Scofield, R Hal RH; Alarcón-Riquelme, Marta E ME; , ; Williams, Scott M SM; Merrill, Joan T JT; James, Judith A JA; Kaufman, Kenneth M KM; Kimberly, Robert P RP; Harley, John B JB; Nath, Swapan K SK
Publication Date: 2013

Variant appearance in text: rs13023380
PubMed Link: 23441136
Variant Present in the following documents:
  • Main text
  • pgen.1003222.pdf
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To identify associations with rare variants, just WHaIT: Weighted haplotype and imputation-based tests.

American Journal Of Human Genetics
Li, Yun Y; Byrnes, Andrea E AE; Li, Mingyao M
Publication Date: 2010-11-12

Variant appearance in text: rs13023380
PubMed Link: 21055717
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reduced expression of IFIH1 is protective for type 1 diabetes.

Plos One
Downes, Kate K; Pekalski, Marcin M; Angus, Karen L KL; Hardy, Matthew M; Nutland, Sarah S; Smyth, Deborah J DJ; Walker, Neil M NM; Wallace, Chris C; Todd, John A JA
Publication Date: 2010-09-09

Variant appearance in text: rs13023380
PubMed Link: 20844740
Variant Present in the following documents:
  • Main text
  • pone.0012646.pdf
View BVdb publication page