PTPN22 c.2251-1940T>C

Variant ID: 1-114369734-A-G

NM_015967.5(PTPN22):c.2251-1940T>C

This variant was identified in 7 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: rs2476600
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: rs2476600
PubMed Link: 27047537
Variant Present in the following documents:
  • Main text
  • fgene-07-00034.pdf
View BVdb publication page



Gene- or region-based association study via kernel principal component analysis.

Bmc Genetics
Gao, Qingsong Q; He, Yungang Y; Yuan, Zhongshang Z; Zhao, Jinghua J; Zhang, Bingbing B; Xue, Fuzhong F
Publication Date: 2011-08-26

Variant appearance in text: rs2476600
PubMed Link: 21871061
Variant Present in the following documents:
  • Main text
  • 1471-2156-12-75.pdf
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: rs2476600
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: rs2476600
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: rs2476600
PubMed Link: 19682379
Variant Present in the following documents:
  • Main text
  • 1423-0127-16-73.pdf
View BVdb publication page



PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.

American Journal Of Human Genetics
Carlton, Victoria E H VE; Hu, Xiaolan X; Chokkalingam, Anand P AP; Schrodi, Steven J SJ; Brandon, Rhonda R; Alexander, Heather C HC; Chang, Monica M; Catanese, Joseph J JJ; Leong, Diane U DU; Ardlie, Kristin G KG; Kastner, Daniel L DL; Seldin, Michael F MF; Criswell, Lindsey A LA; Gregersen, Peter K PK; Beasley, Ellen E; Thomson, Glenys G; Amos, Christopher I CI; Begovich, Ann B AB
Publication Date: 2005-10

Variant appearance in text: rs2476600
PubMed Link: 16175503
Variant Present in the following documents:
  • Main text
View BVdb publication page