PTPN22 c.2281+1330A>G

Variant ID: 1-114366434-T-C

NM_015967.5(PTPN22):c.2281+1330A>G

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: rs3789607
PubMed Link: 32879140
Variant Present in the following documents:
  • jciinsight-5-136477-s105.xlsx, sheet 5
View BVdb publication page



Using Incomplete Trios to Boost Confidence in Family Based Association Studies.

Frontiers In Genetics
Dhankani, Varsha V; Gibbs, David L DL; Knijnenburg, Theo T; Kramer, Roger R; Vockley, Joseph J; Niederhuber, John J; Shmulevich, Ilya I; Bernard, Brady B
Publication Date: 2016

Variant appearance in text: rs3789607
PubMed Link: 27047537
Variant Present in the following documents:
  • Main text
  • fgene-07-00034.pdf
View BVdb publication page



Genetic heterogeneity of susceptibility gene in different ethnic populations: refining association study of PTPN22 for Graves' disease in a Chinese Han population.

Plos One
Xue, Liqiong L; Pan, Chunming C; Gu, Zhaohui Z; Zhao, Shuangxia S; Han, Bing B; Liu, Wei W; Yang, Shaoying S; Yu, Shasha S; Sun, Yixuan Y; Liang, Jun J; Gao, Guanqi G; Zhang, Xiaomei X; Yuan, Guoyue G; Li, Changgui C; Du, Wenhua W; Chen, Gang G; Chen, Jialun J; Song, Huaidong H
Publication Date: 2013

Variant appearance in text: rs3789607
PubMed Link: 24386393
Variant Present in the following documents:
  • Main text
  • pone.0084514.pdf
View BVdb publication page



The balance of expression of PTPN22 splice forms is significantly different in rheumatoid arthritis patients compared with controls.

Genome Medicine
Ronninger, Marcus M; Guo, Yongjing Y; Shchetynsky, Klementy K; Hill, Andrew A; Khademi, Mohsen M; Olsson, Tomas T; Reddy, Padmalatha S PS; Seddighzadeh, Maria M; Clark, James D JD; Lin, Lih-Ling LL; O'Toole, Margot M; Padyukov, Leonid L
Publication Date: 2012-01-20

Variant appearance in text: rs3789607
PubMed Link: 22264340
Variant Present in the following documents:
  • Main text
  • gm301.pdf
View BVdb publication page



The PTPN22 locus and rheumatoid arthritis: no evidence for an effect on risk independent of Arg620Trp.

Plos One
Wan Taib, Wan R WR; Smyth, Deborah J DJ; Merriman, Marilyn E ME; Dalbeth, Nicola N; Gow, Peter J PJ; Harrison, Andrew A AA; Highton, John J; Jones, Peter B B PB; Stamp, Lisa L; Steer, Sophia S; Todd, John A JA; Merriman, Tony R TR
Publication Date: 2010-10-21

Variant appearance in text: rs3789607
PubMed Link: 20975833
Variant Present in the following documents:
  • Main text
  • pone.0013544.pdf
View BVdb publication page



Evaluating epistatic interaction signals in complex traits using quantitative traits.

Bmc Proceedings
Mukherjee, Odity O; Sanapala, Krishna Rao KR; Anbazhagana, Padmanabhan P; Ghosh, Saurabh S
Publication Date: 2009-12-15

Variant appearance in text: rs3789607
PubMed Link: 20018078
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

Genes And Immunity
Howson, J M M JM; Walker, N M NM; Smyth, D J DJ; Todd, J A JA; ,
Publication Date: 2009-12

Variant appearance in text: rs3789607
PubMed Link: 19956106
Variant Present in the following documents:
  • Main text
View BVdb publication page



Overview of the Rapid Response data.

Genes And Immunity
Brown, W M WM; Pierce, J J JJ; Hilner, J E JE; Perdue, L H LH; Lohman, K K; Lu, L L; de Bakker, P I W PI; Irenze, K K; Ziaugra, L L; Mirel, D B DB; ,
Publication Date: 2009-12

Variant appearance in text: rs3789607
PubMed Link: 19956101
Variant Present in the following documents:
  • Main text
View BVdb publication page



rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype.

Genes And Immunity
Steck, A K AK; Baschal, E E EE; Jasinski, J M JM; Boehm, B O BO; Bottini, N N; Concannon, P P; Julier, C C; Morahan, G G; Noble, J A JA; Polychronakos, C C; She, J X JX; Eisenbarth, G S GS; ,
Publication Date: 2009-12

Variant appearance in text: rs3789607
PubMed Link: 19956096
Variant Present in the following documents:
  • Main text
View BVdb publication page



TagSNP transferability and relative loss of variability prediction from HapMap to an admixed population.

Journal Of Biomedical Science
Lins, Tulio C TC; Abreu, Breno S BS; Pereira, Rinaldo W RW
Publication Date: 2009-08-14

Variant appearance in text: rs3789607
PubMed Link: 19682379
Variant Present in the following documents:
  • Main text
  • 1423-0127-16-73.pdf
View BVdb publication page