Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation UNIPROT

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE A functional polymorphism (1858C/T) in the PTPN22 gene is linked and associated with type I diabetes in multiplex families. 15526003

2004

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE Recently, it has been reported that a single nucleotide polymorphism (SNP), 1858C>T, in the gene PTPN22, encoding Arg620Trp in the lymphoid protein tyrosine phosphatase (LYP), which has been shown to be a negative regulator of T-cell activation, is associated with an increased risk of type 1 diabetes. 15504986

2004

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE The PTPN22 polymorphism 1858 C/T may be involved in the pathogenesis of type 1 diabetes mellitus by a sex-specific mechanism that contributes to susceptibility in females. 16322396

2005

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE In this study, a set of 341 white, multiplex T1D families were genotyped for the C1858T single nucleotide polymorphism of PTPN22, and transmission disequilibrium test analysis revealed significant association (p = 0.005) of the T allele with T1D. 15620463

2005

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE We have genotyped 396 type 1 diabetic patients and 1,178 control subjects of Caucasian descent from north central Florida and report a strong association between type 1 diabetes and a polymorphism (R620W) in the PTPN22 gene. 15734872

2005

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE We report that a recently described functional single-nucleotide polymorphism (rs2476601, encoding R620W) in the intracellular tyrosine phosphatase (PTPN22) confers risk of four separate autoimmune phenotypes in these families: T1D, RA, SLE, and Hashimoto thyroiditis. 15719322

2005

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE A functional single nucleotide polymorphism, 1858C>T, in the PTPN22 gene, encoding a tyrosine phosphatase, has been reported to be associated with type I diabetes and some other autoimmune diseases. 15759012

2005

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE A missense single-nucleotide polymorphism (SNP) within this gene (rs2476601) has recently been associated with 4 autoimmune diseases: rheumatoid arthritis (RA), systemic lupus erythematosus, autoimmune thyroid disease, and type 1 diabetes mellitus, all of which are T cell-mediated and associated with the elaboration of autoantibody. 15934099

2005

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been reported to be associated with multiple autoimmune diseases, including type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis, juvenile idiopathic arthritis, autoimmune thyroiditis and vitiligo. 16464986

2006

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE Recently, a gain of function variant C1858T of the lymphoid-specific protein tyrosine phosphatase non-receptor (LYP, PTPN22) gene has been reported to be associated with several autoimmune disorders including Graves' disease, type 1 diabetes, rheumatoid arthritis and vitiligo. 16893384

2006

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE These results support the conclusion that the 1858C/T allele is the major risk variant for type 1 diabetes in the PTPN22 locus, but they suggest that additional infrequent coding variants at PTPN22 may also contribute to type 1 diabetes risk. 17003357

2006

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE The aim of this study has been to investigate the possible association of 1858C-->T PTPN22 polymorphism and type 1 diabetes (T1D) in Caucasians from Ukraine. 16671953

2006

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE The C1858T single-nucleotide polymorphism within the PTPN22 gene was genotyped in 753 patients with T1D ascertained from the diabetes clinic at the Barbara Davis Center in Denver and 662 control population. 17054449

2006

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE Recently, the minor allele of a single-nucleotide polymorphism (SNP) at nucleotide position 1858 (rs2476601, +1858C > T) was found to be associated with type 1 diabetes. 16470599

2006

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE In the pathogenesis of type 1 diabetes the underlying mechanism of the PTPN22 C1858T polymorphism appears to involve regulation of insulin-specific autoimmunity. 16614815

2006

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE The R620W (1858C-->T) polymorphism in PTPN22 has been implicated in type 1 diabetes mellitus, rheumatoid arthritis, Graves' disease, Hashimoto thyroiditis, autoimmune thyroid disease, and systemic lupus erythematosus (SLE). 16868974

2006

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE A variant (R620W) of PTPN22 was consistently associated with type 1 diabetes in Caucasian populations, but the variant was absent in Asian populations including Japanese. 17130532

2006

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
T 1.000 GeneticVariation GWASDB Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 17554260

2007

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE Susceptibility to type 1 diabetes conferred by the PTPN22 C1858T polymorphism in the Spanish population. 17697317

2007

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE PTPN22 R620W functional variant in type 1 diabetes and autoimmunity related traits. 17259401

2007

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
A 1.000 GeneticVariation GWASCAT A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE A variant (R620W) of PTPN22 was associated with type 1 diabetes and other autoimmune diseases in Caucasians, but the variant was absent in Asians. 17452059

2007

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
T 1.000 GeneticVariation GWASCAT Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes. 17554260

2007

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
A 1.000 GeneticVariation GWASDB A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene. 17632545

2007