Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3117230
rs3117230 		0.710 GeneticVariation GWASDB HLA-DPB1 and DPB2 are genetic loci for systemic sclerosis: a genome-wide association study in Koreans with replication in North Americans. 19950302

2009
dbSNP: rs3128930
rs3128930 		0.710 GeneticVariation GWASDB HLA-DPB1 and DPB2 are genetic loci for systemic sclerosis: a genome-wide association study in Koreans with replication in North Americans. 19950302

2009
dbSNP: rs3128930
rs3128930 		0.710 GeneticVariation BEFREE The single-nucleotide polymorphisms (SNPs) (rs3128930, rs7763822, rs7764491, rs3117230, and rs3128965) of HLA-DPB1 and DPB2 on chromosome 6 formed a distinctive peak with log P values for association with SSc susceptibility (P=8.16x10(-13)). 19950302

2009
dbSNP: rs3128965
rs3128965
HLA-DPB1
0.710 GeneticVariation BEFREE The single-nucleotide polymorphisms (SNPs) (rs3128930, rs7763822, rs7764491, rs3117230, and rs3128965) of HLA-DPB1 and DPB2 on chromosome 6 formed a distinctive peak with log P values for association with SSc susceptibility (P=8.16x10(-13)). 19950302

2009
dbSNP: rs3128965
rs3128965
HLA-DPB1
0.710 GeneticVariation GWASDB HLA-DPB1 and DPB2 are genetic loci for systemic sclerosis: a genome-wide association study in Koreans with replication in North Americans. 19950302

2009
dbSNP: rs7763822
rs7763822
HLA-DPA2
0.700 GeneticVariation GWASDB HLA-DPB1 and DPB2 are genetic loci for systemic sclerosis: a genome-wide association study in Koreans with replication in North Americans. 19950302

2009
dbSNP: rs7764491
rs7764491
HLA-DPA2
0.700 GeneticVariation GWASDB HLA-DPB1 and DPB2 are genetic loci for systemic sclerosis: a genome-wide association study in Koreans with replication in North Americans. 19950302

2009
dbSNP: rs2004640
rs2004640
IRF5
0.090 GeneticVariation BEFREE The IRF5 rs2004640 GT substitution is associated with susceptibility to SSc. 19116937

2009
dbSNP: rs2004640
rs2004640
IRF5
0.090 GeneticVariation BEFREE Conditional analysis revealed that rs2280714 could account for most of the association of these SNPs, while an additional contribution of rs2004640 was also suggested for dcSSc. 19479858

2009
dbSNP: rs2004640
rs2004640
IRF5
0.090 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: rs10516487
rs10516487
BANK1
0.020 GeneticVariation BEFREE To determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with systemic sclerosis (SSc) in 2 European Caucasian populations and to investigate the putative gene-gene interactions between BANK1 and IRF5 as well as STAT4. 19877059

2009
dbSNP: rs3733197
rs3733197
BANK1
0.020 GeneticVariation BEFREE To determine whether the functional BANK1 variants rs3733197 and rs10516487 are associated with systemic sclerosis (SSc) in 2 European Caucasian populations and to investigate the putative gene-gene interactions between BANK1 and IRF5 as well as STAT4. 19877059

2009
dbSNP: rs11209026
rs11209026
IL23R
0.010 GeneticVariation BEFREE Analyses of subsets of SSc patients showed that rs11209026 (Arg381Gln variant) was associated with anti-topoisomerase I antibody (ATA)-positive SSc (p = 0.001)) and rs11465804 SNP was associated with diffuse and ATA-positive SSc (p = 0.0001, p = 0.0026, respectively). 19918037

2009
dbSNP: rs11465804
rs11465804
IL23R
0.010 GeneticVariation BEFREE Analyses of subsets of SSc patients showed that rs11209026 (Arg381Gln variant) was associated with anti-topoisomerase I antibody (ATA)-positive SSc (p = 0.001)) and rs11465804 SNP was associated with diffuse and ATA-positive SSc (p = 0.0001, p = 0.0026, respectively). 19918037

2009
dbSNP: rs11889341
rs11889341
STAT4
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
dbSNP: rs1217691063
rs1217691063
MTHFR
0.010 GeneticVariation BEFREE The presence of MTHFR C677T mutation influences the incidence of macrovascular abnormalities in SSc patients. 19093229

2009
dbSNP: rs150840924
rs150840924
LMNA
0.010 GeneticVariation BEFREE Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation. 19842191

2009
dbSNP: rs2280714
rs2280714
TNPO3
0.010 GeneticVariation BEFREE Conditional analysis revealed that rs2280714 could account for most of the association of these SNPs, while an additional contribution of rs2004640 was also suggested for dcSSc. 19479858

2009
dbSNP: rs4362
rs4362
ACE
0.010 GeneticVariation BEFREE Two supplementary exonic SNP of ACE gene (rs4309, rs4362) were genotyped in 659 patients with SSc and 511 matched healthy controls. 19132786

2009
dbSNP: rs2056626
rs2056626
CD247
0.830 GeneticVariation GWASDB Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147

2010
dbSNP: rs2056626
rs2056626
CD247
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
CD247
0.830 GeneticVariation GWASCAT Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. 20383147

2010
dbSNP: rs2736340
rs2736340 		0.820 GeneticVariation BEFREE The "T" allele at rs2736340 variant was associated with SSc in both the U.S. and Spanish case-control series (P = 6.8 x 10(-5), OR 1.27, 95% CI 1.1-1.4). 19796918

2010
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