rs10488631, TNPO3

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.830 GeneticVariation BEFREE The variants of IRF5 with the highest posterior probabilities (1.00 and 0.71, respectively) of being causal in SLE are a SNP (rs10488631) located 3' of IRF5, and a novel CGGGG insertion-deletion (indel) polymorphism located 64 bp upstream of the first untranslated exon (exon 1A) of IRF5. 18063667 2008
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.830 GeneticVariation GWASDB Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. 18204098 2008
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.830 GeneticVariation GWASCAT Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX. 18204098 2008
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASDB Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. 19458352 2009
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASCAT Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. 19458352 2009
Biliary cirrhosis
CUI: C0023892
Disease: Biliary cirrhosis
0.700 GeneticVariation GWASCAT Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. 19458352 2009
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation GWASDB Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation GWASCAT Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. 20453842 2010
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation GWASCAT Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation GWASDB Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASDB Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. 20639880 2010
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASCAT Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. 20639880 2010
Biliary cirrhosis
CUI: C0023892
Disease: Biliary cirrhosis
0.700 GeneticVariation GWASCAT Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. 20639880 2010
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.830 GeneticVariation GWASCAT Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. 21408207 2011
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.830 GeneticVariation GWASDB Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production. 21408207 2011
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation BEFREE Both the CGGGG indel and rs10488631 are relevant for RA susceptibility, especially for seronegative RA. 21807777 2011
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation GWASCAT Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation GWASDB Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation GWASDB Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. 21779181 2011
Systemic Scleroderma
CUI: C0036421
Disease: Systemic Scleroderma
0.810 GeneticVariation GWASCAT Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. 21779181 2011
Immune System Diseases
CUI: C0021053
Disease: Immune System Diseases
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
0.700 GeneticVariation GWASDB Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. 22190364 2011
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
0.700 GeneticVariation GWASDB Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci. 21383967 2011
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
0.820 GeneticVariation GWASDB High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis. 23143596 2012
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.800 GeneticVariation GWASDB Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosis. 22961000 2012