Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10036748
rs10036748
TNIP1
0.010 GeneticVariation BEFREE The T allele of rs10036748 in the TNIP1 gene is the minor protective allele for asthma but the minor or major risk allele for systemic lupus erythematosus and systemic sclerosis in non-Hispanic white or Chinese subjects, respectively. 22694930

2012
dbSNP: rs1005714
rs1005714
GGA3 ; NUP85
0.700 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989

2019
dbSNP: rs10168266
rs10168266
STAT4
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: rs10174238
rs10174238
STAT4
0.700 GeneticVariation GWASCAT Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations. 29293537

2018
dbSNP: rs10174238
rs10174238
STAT4
0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs10178332
rs10178332
ROCK2
0.010 GeneticVariation BEFREE Significant association was found in a polymorphism in the ROCK1 gene (rs35996865), a polymorphism in ROCK2 gene (rs10178332), a polymorphism in RhoA gene (rs2177268) and two polymorphisms in RhoC gene (rs11102522 and rs11538960) with SSc disease (p < 0.0022). 26615410

2016
dbSNP: rs10186029
rs10186029
IKZF2
0.700 GeneticVariation GWASCAT Gene-level association analysis of systemic sclerosis: A comparison of African-Americans and White populations. 29293537

2018
dbSNP: rs10220668
rs10220668
LINC01500
0.700 GeneticVariation GWASDB A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937

2013
dbSNP: rs1035798
rs1035798
AGER
0.700 GeneticVariation GWASDB Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147

2010
dbSNP: rs10406069
rs10406069
CD22 ; MIR5196
0.010 GeneticVariation BEFREE Among the whole SSc population, 304 (34%) had the diffuse cutaneous subtype, 551 (61%) had the limited cutaneous subtype, 732 (81%) were positive for antinuclear antibodies , 331 (37%) were positive for anticentromere antibodies and 228 (25%) for the topo-isomerase I. Genotyping has been performed for CD19 rs35979293, CD19 rs2904880, CD20 rs7126354, CD20 rs3802954, CD20 rs105146, CD20 rs4939364, CD22 rs10406069, CD22 rs10413500, CD22 rs10419538, CD22 rs34826052 and CD24 ins-del polymorphisms. 21961844

2012
dbSNP: rs10413500
rs10413500
CD22 ; MIR5196
0.010 GeneticVariation BEFREE Among the whole SSc population, 304 (34%) had the diffuse cutaneous subtype, 551 (61%) had the limited cutaneous subtype, 732 (81%) were positive for antinuclear antibodies , 331 (37%) were positive for anticentromere antibodies and 228 (25%) for the topo-isomerase I. Genotyping has been performed for CD19 rs35979293, CD19 rs2904880, CD20 rs7126354, CD20 rs3802954, CD20 rs105146, CD20 rs4939364, CD22 rs10406069, CD22 rs10413500, CD22 rs10419538, CD22 rs34826052 and CD24 ins-del polymorphisms. 21961844

2012
dbSNP: rs10419538
rs10419538
CD22
0.010 GeneticVariation BEFREE Among the whole SSc population, 304 (34%) had the diffuse cutaneous subtype, 551 (61%) had the limited cutaneous subtype, 732 (81%) were positive for antinuclear antibodies , 331 (37%) were positive for anticentromere antibodies and 228 (25%) for the topo-isomerase I. Genotyping has been performed for CD19 rs35979293, CD19 rs2904880, CD20 rs7126354, CD20 rs3802954, CD20 rs105146, CD20 rs4939364, CD22 rs10406069, CD22 rs10413500, CD22 rs10419538, CD22 rs34826052 and CD24 ins-del polymorphisms. 21961844

2012
dbSNP: rs10488631
rs10488631
TNPO3
C 0.810 GeneticVariation GWASCAT Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679

2011
dbSNP: rs10488631
rs10488631
TNPO3
C 0.810 GeneticVariation GWASCAT Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147

2010
dbSNP: rs10488631
rs10488631
TNPO3
C 0.810 GeneticVariation GWASDB Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147

2010
dbSNP: rs10488631
rs10488631
TNPO3
C 0.810 GeneticVariation GWASDB Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis. 21750679

2011
dbSNP: rs10488631
rs10488631
TNPO3
0.810 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: rs10488631
rs10488631
TNPO3
0.810 GeneticVariation GWASDB Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. 21779181

2011
dbSNP: rs10488631
rs10488631
TNPO3
C 0.810 GeneticVariation GWASCAT Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study. 30247649

2019
dbSNP: rs10488631
rs10488631
TNPO3
0.810 GeneticVariation GWASCAT Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy. 21779181

2011
dbSNP: rs10498070
rs10498070 		0.800 GeneticVariation GWASDB A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937

2013
dbSNP: rs10498070
rs10498070 		0.800 GeneticVariation GWASCAT A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937

2013
dbSNP: rs10499194
rs10499194 		0.010 GeneticVariation BEFREE The rs5029939 G allele was found to be significantly associated with SSc susceptibility (pooled OR=2.08 (95% CI 1.59 to 2.72); p=1.16×10⁻⁷), whereas the rs10499194 and rs6920220 variants displayed no association. 20511617

2010
dbSNP: rs10499197
rs10499197 		0.800 GeneticVariation GWASDB A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937

2013
dbSNP: rs10499197
rs10499197 		0.800 GeneticVariation GWASCAT A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. 23740937

2013