rs34536443, TYK2

N. diseases: 25
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.750 GeneticVariation BEFREE Cytokine responses for two associated variants (R231W, rs201917359; and R703W, rs55882956) in <i>TYK2</i> as well as a previously reported risk variant (P1004A, rs34536443) for multiple autoimmune diseases were evaluated by reporter assays. 31118190 2019
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.750 GeneticVariation BEFREE Genome wide association studies have linked a SNP (rs34536443) within <i>TYK2</i> encoding a Proline to Alanine substitution at amino acid 1104, to protection from multiple autoimmune diseases including systemic lupus erythematosus (SLE) and multiple sclerosis (MS). 30740104 2019
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.750 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.750 GeneticVariation BEFREE Our MD results provided information, at atomic level, on the consequences of the Pro1104 to Ala substitution on the structure and dynamics of the kinase domain of Tyk2 and suggested reduced enzymatic activity of the resulting protein variant due to stabilization of inactive conformations, thus adding to knowledge towards the elucidation of the protection mechanism against autoimmune diseases associated with this point mutation. 30423093 2018
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.750 GeneticVariation BEFREE Finally, in a phenome-wide association study (PheWAS) assessing >500 phenotypes using electronic medical records (EMR) in >29,000 subjects, we found no convincing evidence for association of P1104A and A928V with complex phenotypes other than autoimmune diseases such as RA, SLE and IBD. 25849893 2015
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.750 GeneticVariation BEFREE In this study, we characterized two rare Tyk2 variants, I684S and P1104A, which have been associated with susceptibility to autoimmune disease. 23359498 2013