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 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 A C1858T single nucleotide polymorphism within PTPN22 (which encodes PTPN22<sup>R620W</sup>) is associated with an enhanced susceptibility to multiple autoimmune diseases including type 1 diabetes and rheumatoid arthritis. 30139951

2018

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 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 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 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 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 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 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
1.000 GeneticVariation BEFREE Across all populations, significant associations were found between the PTPN22 C1858T polymorphism and susceptibility to T1D under genotypic (TT vs. CC [OR = 3.656, 95% CI: 3.139-4.257], CT vs. CC [OR = 1.968, 95% CI: 1.683-2.300]), recessive (OR = 3.147, 95% CI: 2.704-3.663), and dominant models (OR = 1.957, 95% CI: 1.817-2.108). 23438410

2013

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE After stratification by ethnicity, analysis revealed that the PTPN22 C1858T</span> polymorphism T allele was significantly associated with T1D in Europeans, Americans (OR = 1.946, 95% CI = 1.852~2.045, P < 0.001; OR = 1.946, 95% CI = 1.690~2.242, P < 0.001, respectively). 22429252

2012

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 Association between PTPN22 C1858T and type 1 diabetes: a replication in continental Italy. 18179648

2008

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 Fourth, at PTPN22, there was evidence for a novel contribution to T1D risk, independent of the replicated effect of the R620W variant. 19956109

2009

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE G(-1123)C and C1858T were in linkage disequilibrium (D' = 0.98; r(2) =0.61 in T1DM and D' = 0.97; r(2) =0.41 in controls). 20518841

2010

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE Genotype, allele, and phenotype distributions of the PTPN22 C1858T variant revealed similar frequencies in autoimmune diabetes with high GADA titer and juvenile-onset type 1 diabetes. 18056891

2008

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE Genotyping in 3,609 T1D families showed that rs56048322 was significantly associated with T1D and that this association was independent of the T1D-associated common variant rs2476601. 26631741

2016

dbSNP: rs2476601
rs2476601
Diabetes Mellitus, Insulin-Dependent
1.000 GeneticVariation BEFREE Here, we analysed the effect of T1D-associated major HLA class II haplotypes and seven single nucleotide polymorphisms in six non-HLA genes [INS (rs689), PTPN22 (rs2476601), IL2RA (rs12722495 and rs2104286), PTPN2 (rs45450798), CTLA4 (rs3087243) and ERBB3 (rs2292239)] on peripheral blood Treg frequencies. 31808541

2019

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 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 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 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 Interplay between PTPN22 C1858T polymorphism and cow's milk formula exposure in type 1 diabetes. 19473815

2009