Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs7574865
rs7574865
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.870 GeneticVariation BEFREE Among eight SSc-associated susceptibility polymorphisms which were applied for meta-analysis, IRF5 rs2004640 polymorphism (OR 1.12; 95% CI 1.02-1.22, P = 1.39 × 10<sup>-2</sup>), STAT4 rs7574865 polymorphism (OR 1.25; 95% CI 1.07-1.47, P = 5.3 × 10<sup>-3</sup>), IRAK1 rs1059702 polymorphism (OR 1.20; 95% CI 1.05-1.37, P = 0.007), and CTGF G-945C polymorphism (OR 1.42; 95% CI 1.18-1.71, P = 0.002) are associated with PF status in SSc, while TNFAIP3 rs5029939, CD226 rs763361, CD247 rs2056626, and IRF5 rs10488631 polymorphisms are not. 28434122 2017
dbSNP: rs7574865
rs7574865
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
T 0.870 GeneticVariation GWASCAT Transethnic meta-analysis identifies GSDMA and PRDM1 as susceptibility genes to systemic sclerosis. 28314753 2017
dbSNP: rs7574865
rs7574865
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.870 GeneticVariation BEFREE The results demonstrated that STAT4 rs7574865 and IRF5 rs2004640G/T substitution are associated with a susceptibility to SSc, and they may serve as the SSc genetic susceptibility factor. 26712637 2016
dbSNP: rs7574865
rs7574865
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.870 GeneticVariation BEFREE The T-allele carriers of rs7574865 and rs10168266 were strongly associated with the presence of anti-topoisomerase I (ATA) and pulmonary fibrosis in SSc patients, as well as with diffuse cutaneous SSc (dcSSc). 23755762 2013
dbSNP: rs7574865
rs7574865
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.870 GeneticVariation BEFREE We found a significant association between SSc and STAT rs7574865 (TT vs. GG: OR 0.44, 95% CI 0.36-0.54; TT vs. TG + GG: OR 0.48, 95% CI 0.39-0.59; TT + TG vs. GG: OR 0.74, 95% CI 0.66-0.83; T vs. G: OR 0.72, 95% CI 0.66-0.79), but there were no other statistically significant associations with other gene polymorphisms. 22173230 2012
dbSNP: rs7574865
rs7574865
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
T 0.870 GeneticVariation GWASCAT Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
dbSNP: rs7574865
rs7574865
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.870 GeneticVariation BEFREE Logistic regression analysis showed an additive effect of IRF5 rs2004640, STAT4 rs7574865 and NLRP1 rs8182352 risk alleles on SSc-related FA. 21149496 2011
dbSNP: rs7574865
rs7574865
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
T 0.870 GeneticVariation GWASDB Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679 2011
dbSNP: rs7574865
rs7574865
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.870 GeneticVariation BEFREE The association of the rs7574865 T allele with lcSSc was confirmed in all the replication cohorts with different effect sizes (OR ranging between 1.15 and 1.86), as well as the lack of association of STAT4 with dcSSc. 19286670 2009
dbSNP: rs7574865
rs7574865
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.870 GeneticVariation BEFREE An additive effect of the STAT4 rs7574865 T allele and the IRF5 rs2004640 T allele was observed, resulting in a multiple increased 1.28-fold risk of SSc. 19644887 2009
dbSNP: rs3821236
rs3821236
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
A 0.800 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989 2019
dbSNP: rs7601754
rs7601754
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.800 GeneticVariation GWASCAT A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937 2013
dbSNP: rs7601754
rs7601754
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.800 GeneticVariation GWASDB A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937 2013
dbSNP: rs3821236
rs3821236
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.800 GeneticVariation GWASDB Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. 21779181 2011
dbSNP: rs3821236
rs3821236
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.800 GeneticVariation GWASCAT Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. 21779181 2011
dbSNP: rs3821236
rs3821236
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
A 0.800 GeneticVariation GWASDB Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010
dbSNP: rs3821236
rs3821236
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
A 0.800 GeneticVariation GWASCAT Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147 2010
dbSNP: rs10174238
rs10174238
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
dbSNP: rs13389408
rs13389408
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
C 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655 2019
dbSNP: rs10174238
rs10174238
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.700 GeneticVariation GWASCAT Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations. 29293537 2018
dbSNP: rs11893432
rs11893432
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.700 GeneticVariation GWASCAT Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations. 29293537 2018
dbSNP: rs11893432
rs11893432
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.700 GeneticVariation GWASCAT Immunochip analysis identifies multiple susceptibility loci for systemic sclerosis. 24387989 2014
dbSNP: rs10168266
rs10168266
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.010 GeneticVariation BEFREE The T-allele carriers of rs7574865 and rs10168266 were strongly associated with the presence of anti-topoisomerase I (ATA) and pulmonary fibrosis in SSc patients, as well as with diffuse cutaneous SSc (dcSSc). 23755762 2013
dbSNP: rs11889341
rs11889341
Entrez Id: 6775
Gene Symbol: STAT4
STAT4
CUI: C0036421
Disease:
Systemic Scleroderma
0.010 GeneticVariation BEFREE In an analysis of 1,039 SSc patients and 3,322 controls, the A allele of the STAT4 variant rs11889341 was associated with increased SSc susceptibility in a dominant pattern (Pcorr=2.4x10(-5), odds ratio 1.29, 95% confidence interval 1.2-1.5). 19950257 2009