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 GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370

2019

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Results set-up the stage for ultimate trials in the treatment of autoimmunity based on the specific inhibitory targeting of C1858T PTPN22 by lipoplexes. 30439564

2019

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE Our data showed that the PTPN22 R620W polymorphism is a risk factor for TA (CC vs. CT: OR 4.3, p = 0.002, and C vs. T: OR 4.1, p = 0.003); however, the PTPN22 R263Q and - 1123G/C polymorphisms are not associated with this AD. 30470857

2019

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 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 For Caucasian females, PTPN22 SNP rs2476601 was significantly associated with autoimmune disease by allelic association tests (OR = 1.99, [1.30-3.04]). 31759816

2019

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The R620W polymorphism in protein tyrosine phosphatase nonreceptor type 22 (PTPN22) predisposes carriers to several autoimmune diseases. 29666305

2018

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 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
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE <i>PTPN22</i> is described as the hallmark autoimmunity gene, and one specific single nucleotide polymorphism (SNP), rs2476601, is associated with multiple autoimmune diseases, impaired T cell regulation, and autoantibody formation. 30705675

2018

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The c.1858C>T polymorphism of the PTPN22 gene, which codes a protein tyrosine phosphatase important in lymphocyte activation, predisposes to a number of autoimmune diseases. 27866840

2017

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE The PTPN22 rs2476601 minor allele (A) was associated with T1D in Iran, accounting for its pathophysiology in autoimmune diseases. 28375784

2017

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 functional PTPN22 R620W polymorphism (rs2476601) is clearly associated with susceptibility to several autoimmune diseases (ADs). 28500376

2017

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 A missense single nucleotide polymorphism (SNP) (rs2476601) in PTPN22 has been linked to numerous autoimmune diseases in Caucasians. 27406031

2016

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE A genetic variant of the leukocyte phosphatase PTPN22 (R620W) is strongly associated with autoimmune diseases including rheumatoid arthritis (RA). 24665115

2015

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 The functional but geographically highly variable PTPN22 single-nucleotide polymorphisms (SNPs), particularly c.1858C>T, contribute to the onset and progression of autoimmunity-associated diseases and facilitate the expression of disease-associated autoantibodies. 25896041

2015

dbSNP: rs2476601
rs2476601
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.900 GeneticVariation BEFREE To replicate a single nucleotide polymorphism (SNP) of known genes for lupus (IRF5 rs10488631, PTPN22 rs2476601, BLK rs2736340 and TNFAIP3 rs5029939) and other autoimmune diseases (CD28 rs1980422, IL2RA rs2104286 and KIF5A rs1678542) on a newly studied Egyptian cohort to investigate the genetic disparity with different studied ethnic groups in relation to lupus susceptibility. 26092158

2015

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 On the basis of these results, the HLA alleles DRB1*0101 and DRB1*0404 and the PTPN22 R620W variant are consistently associated with autoimmunity in the T1DGC Autoantibody Workshop data. 26405072

2015

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 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 The disease-associated PTPN22-R620W variant protein is likely involved in multiple stages of the pathogenesis of autoimmunity. 24364806

2014