Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2056626
rs2056626
0.830 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: rs2056626
rs2056626
0.830 GeneticVariation GWASDB Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147

2010

dbSNP: rs2056626
rs2056626
T 0.830 GeneticVariation GWASCAT Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679

2011

dbSNP: rs2056626
rs2056626
0.830 GeneticVariation BEFREE Five single nucleotide polymorphisms, IRF5 (rs10488631, rs12537284, rs4728142), STAT4 (rs3821236), CD247 (rs2056626) reached genome-wide significance in the SSc-GWAS and were examined in the current study. 22440820

2012

dbSNP: rs2056626
rs2056626
0.830 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989

2019

dbSNP: rs2056626
rs2056626
0.830 GeneticVariation BEFREE Analysis of 279,621 autosomal SNPs followed by replication testing in an independent case-control set of European ancestry (2,753 individuals with SSc (cases) and 4,569 controls) identified a new susceptibility locus for systemic sclerosis at CD247 (1q22-23, rs2056626, P = 2.09 x 10(-7) in the discovery samples, P = 3.39 x 10(-9) in the combined analysis). 20383147

2010

dbSNP: rs2056626
rs2056626
0.830 GeneticVariation GWASCAT Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147

2010

dbSNP: rs2056626
rs2056626
T 0.830 GeneticVariation GWASDB Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679

2011