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rs2488457

From SNPedia

Orientationminus
Stabilizedminus
Make rs2488457(C;C)
Make rs2488457(C;G)
Make rs2488457(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position113872746
GeneMIR223, PTPN22
is asnp
is mentioned by
dbSNPrs2488457
ebirs2488457
HLIrs2488457
Exacrs2488457
Varsomers2488457
Maprs2488457
PheGenIrs2488457
hapmaprs2488457
1000 genomesrs2488457
hgdprs2488457
ensemblrs2488457
gopubmedrs2488457
geneviewrs2488457
scholarrs2488457
googlers2488457
pharmgkbrs2488457
gwascentralrs2488457
openSNPrs2488457
23andMers2488457
23andMe allrs2488457
SNP Nexus

SNPshotrs2488457
SNPdbers2488457
MSV3drs2488457
GWAS Ctlgrs2488457
GMAF0.2916
Max Magnitude
? (C;C) (C;G) (G;G) 28
OMIM600716
DescPROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22
Variant
Relatedalso
OMIM600716
Desc
Variant0002
Relatedalso


[PMID 22197427] PTPN22 and myasthenia gravis: replication in an Italian population and meta-analysis of literature data

[PMID 17000021] No independent role of the -1123 G>C and+2740 A>G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations.

[PMID 17934143] Further evidence of a primary, causal association of the PTPN22 620W variant with type 1 diabetes.

[PMID 18075792OA-icon.png] PTPN22: its role in SLE and autoimmunity.

[PMID 18252225OA-icon.png] On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.

[PMID 18578611] Associations of protein tyrosine phosphatase nonreceptor 22 (PTPN22) gene polymorphisms with susceptibility to Graves' disease in a Japanese population.

[PMID 19180477OA-icon.png] Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations.

[PMID 19956096OA-icon.png] rs2476601 T allele (R620W) defines high-risk PTPN22 type I diabetes-associated haplotypes with preliminary evidence for an additional protective haplotype.

[PMID 19956101OA-icon.png] Overview of the Rapid Response data.

[PMID 19956106OA-icon.png] Analysis of 19 genes for association with type I diabetes in the Type I Diabetes Genetics Consortium families.

[PMID 20722033OA-icon.png] The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1.

[PMID 21193990] A PTPN22 promoter polymorphism -1123G>C is associated with RA pathogenesis in Chinese.

[PMID 22396730OA-icon.png] No association of PTPN22 polymorphisms with susceptibility to ocular Behcet's disease in two Chinese Han populations.


[PMID 23025987] Recipient PTPN22 -1123 C/C genotype predicts acute graft-versus-host disease after HLA fully matched unrelated bone marrow transplantation for hematologic malignancies.


[PMID 23456301] Association of PTPN22 gene (rs2488457) polymorphism with ulcerative colitis and high levels of PTPN22 mRNA in ulcerative colitis.


[PMID 25073032] Association Between a Gain-of-Function Variant of PTPN22 and Rejection in Liver Transplantation


[PMID 25781893OA-icon.png] STAT4 rs7574865 G/T and PTPN22 rs2488457 G/C Polymorphisms Influence the Risk of Developing Juvenile Idiopathic Arthritis in Han Chinese Patients


[PMID 27888068] Associations of single nucleotide polymorphisms of PTPN22 and Ctla4 genes with the risk of allergic rhinitis in a Chinese Han population.