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 BEFREE A significant association was detected between the variant genotype of the PTPN22 gene (C1858T, rs2476601) and T1DM in Kuwaiti Arabs. 29924845

2018

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 A coding variant in PTPN22 (C1858T) is one of the most important genetic risk factors in type 1 diabetes (T1D). 31732921

2020

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 The resulting Ptpn22(R619W) mice showed increased insulin autoantibodies and earlier onset and higher penetrance of T1D. 27207523

2016

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE When considering rs2476601 'C' founder chromosomes, a second haplotype (AGGGGC) centromeric of PTPN22 in the C1orf178 region was associated with protection from T1D (odds ratio=0.81, P=0.0005). 19956096

2009

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE In contrast to previous reports, we found no evidence for an alteration of the B cell compartment in healthy individuals homozygous for the non-synonymous PTPN22 Trp(620) T1D risk allele (rs2476601; Arg(620) Trp). 24773525

2014

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE Polymorphisms in the TNF-α(rs1800629), CTLA-4 (rs231775), and PTPN22 (rs2476601) genes have been previous associated with T1D; however, there is no consensus regarding their role in T1D and scarce literature focusing on AIDT and/or CD. 26782543

2015

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE One hundred and one children with type 1 diabetes and 160 healthy controls from the same region were studied for HLA-DQB1, HLA-DQA1, and HLA-DRB1 (DR4 subtypes) alleles; for INS and protein tyrosine phosphatase, non-receptor type 22 gene polymorphisms (rs689 and rs2476601); and for diabetes-associated autoantibodies. 25256132

2015

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 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 hypothesize that the altered T-cell function because of the PTPN22(1858C>T) polymorphism is exclusively associated with GADA-positive T1D at diagnosis. 20445565

2010

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 PTPN22 rs2476601 is associated with JIA and numerous other autoimmune diseases, and has been reported to show female-specific association with type 1 diabetes. 26291515

2015

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE Altered B cell homeostasis and toll-like receptor 9-driven response in type 1 diabetes carriers of the C1858T PTPN22 allelic variant: implications in the disease pathogenesis. 25333705

2014

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE The most significant association was with two T1D SNPs, rs12150079 (ZPBP2/ORMDL3/GSDMB region) (enterovirus frequency: AA 7.3%, AG 8.7%, GG 9.7%, RR = 0.86, overall p = 1.87E-02) and rs229541 (C1QTNF6/SSTR3/RAC2) (enterovirus frequency: CC 7.8%, CT 9.7%, TT 9.4%, RR = 1.13, overall p = 3.6E-02), followed by TLR8 (rs2407992) (p = 3.8E-02), TLR3 (1914926) (p = 4.9E-02), and two other T1D SNPs (IFIH1 rs3747517, p = 4.9E-02 and PTPN22, rs2476601, p = 5.3E-02). 26485223

2015

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 C1858T Polymorphism of Protein Tyrosine Phosphatase Non-receptor Type 22 (PTPN22): an eligible target for prevention of type 1 diabetes? 27892782

2017

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE In conclusion, this meta-analysis suggests that C1858T polymorphism in PTPN22 is associated with elevated T1D risk among Caucasian population. 23291413

2013

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE A nonsynonymous SNP +1858C/T (rs2476601) in the protein tyrosine phosphatase, nonreceptor type 22(PTPN22) gene leading to Arg 620 Trp substitution is known to be associated with susceptibility to type 1 diabetes (T1D) and several other autoimmune diseases. 24913133

2014

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
1.000 GeneticVariation BEFREE Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes in Croatians. 19815302

2009

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 We investigated whether the PTPN22 C1858T polymorphism is associated with the autoimmune conditions present in the family of a child affected by type 1 diabetes (T1D) carrying the TT genotype (index patient) and the potential immunological effect of the variant. 22809281

2013

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE We found a significant association between PTPN22 1858 C/T SNP and T1D and GD. 21467606

2011