Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE One SNP (rs2476601; 1858G>A) has emerged as a particularly potent risk factor for autoimmunity. 25073032

2015

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Genome-wide association studies have linked single-nucleotide polymorphisms in the phosphatases <i>PTPN22</i> (rs2476601) and <i>PTPN2</i> (rs1893217) to increased risk for multiple autoimmune diseases. 31722988

2019

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE A coding polymorphism (R620W) in PTPN22 imparts elevated risk for human infection and autoimmune disease, predisposes to diminished innate immune responses, and associates with reduced immunization responses. 28723925

2017

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 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
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The functional R620W (C1858T) polymorphism of the protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene, a member of the PTPs that negatively regulate T-cell activation, has been recently associated with susceptibility to various autoimmune diseases. 21543514

2011

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE A missense single nucleotide polymorphism (SNP) in the PTPN22 gene known as R620W was recently reported to be associated with several autoimmune diseases including rheumatoid arthritis (RA). 16690758

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE A missense C1858T single nucleotide polymorphism within PTPN22 is a strong genetic risk factor for the development of multiple autoimmune diseases. 30054208

2018

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Two well-known CSK (CSK rs34933034 and CSK rs1378942) and two functional PTPN22 (PTPN22 rs2476601 (R620W) and PTPN22 rs33996649 (R263Q)) polymorphisms, previously associated with autoimmunity, were genotyped with TaqMan single nucleotide polymorphism (SNP) genotyping assays. 26458874

2015

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The R620W polymorphism of the PTPN22 gene is not a major risk allele for SLE susceptibility in our sample of Caucasian individuals from northern America, the UK, or Finland, but it appears to be a risk factor for the concurrent autoimmune diseases of autoimmune thyroid disease and SLE. 16052563

2005

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Considering the female predominance in most of the autoimmune disorders that associate with the PTPN22 Trp620 variant and the complexity by which this variant influences immunologic tolerance, the objective of this study was to ascertain if the allele-specific expression of the disease-associated Arg620Trp polymorphism is affected by cis-acting or sex-specific trans-acting factor/s (e.g. sex-hormones). 17230194

2007

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 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
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 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
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE A gain-of-function R620W polymorphism in the PTPN22 gene, encoding the lymphoid tyrosine phosphatase LYP, has recently emerged as an important risk factor for human autoimmunity. 18981062

2009

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE A single-nucleotide polymorphism (SNP) C1858T located on this gene has been associated with autoimmune diseases and bacterial infections. 19115939

2008

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Considering that previous studies in other populations reported the T allele as the risk allele at this locus, the present study concluded that rs2476601 play no role in susceptibility to RA and other autoimmune diseases in Iranian population. 26547712

2015

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Association of PTPN22 1858C/T Polymorphism with Autoimmune Diseases: A Systematic Review and Bayesian Approach. 30871019

2019

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967

2011

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Recently, the association of a coding variant of the PTPN22 gene-R620W(1858C>T) with a number of autoimmune diseases has been described. 15875058

2005

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The association of subsets of SSc with the PTPN22 R620W polymorphism further strengthens the classification of SSc within the spectrum of autoimmune diseases and strongly suggests the involvement of common susceptibility genes and similarly disordered immunoregulatory pathways. 17133608

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE To assess the possible association between the PTPN22 gene 1858C-->T polymorphism and the predisposition and clinical expression of 2 systemic autoimmune diseases, rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE). 15641066

2005

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 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
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Several studies have identified a functional single nucleotide polymorphism 1858C/T in the PTPN22 gene to be associated with several autoimmune diseases. 17066073

2006

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE A missense mutation changing residue 1858 from cytosine to thymidine (1858C/T) is associated with multiple autoimmune disorders. 19265110

2009

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE PTPN22 C1858T mutation encoding for the R620W lymphoid tyrosine phosphatase variant, plays a potential pathophysiological role in autoimmunity. 28437437

2017

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The PTPN22 rs2476601 genetic variant has been associated with rheumatoid arthritis (RA) and other autoimmune diseases. 21965649

2011