Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.030 GeneticVariation BEFREE In observational studies, the associations of 1858 C/T genetic variant were noteworthy for 12 autoimmune or autoimmunity-related diseases (rheumatoid arthritis, systemic lupus erythematosus, type 1 diabetes mellitus, juvenile idiopathic arthritis, Crohn's disease, anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, vitiligo, Graves' disease, myasthenia gravis, Addison's disease, giant cell arteritis, and endometriosis). 30871019

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.030 GeneticVariation BEFREE The data suggest that in Brazilian women polymorphism PTPN22 (C1858T) may be an important genetic predisposing factor for endometriosis, especially, in advanced disease. 20070289

2010
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.030 GeneticVariation BEFREE The results of the present study show that endometriosis in a Polish population is not associated with the PTPN22/LYP 1858C> T gene polymorphism. 19237203

2009