Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs13239597
rs13239597
TNPO3 ; TPI1P2
0.810 GeneticVariation BEFREE Through a series of bioinformatics and functional analyses, we prioritized a potential independent functional single-nucleotide polymorphism (rs13239597) within TNPO3 promoter region, residing in a putative enhancer element and validated that IRF5 is the distal target gene (∼118 kb) of rs13239597, which is a key regulator involved in pathogenic autoantibody dysregulation, increasing risk of both SLE and SSc. 31421124

2020
dbSNP: rs2056626
rs2056626
CD247
0.830 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989

2019
dbSNP: rs2736340
rs2736340 		T 0.820 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989

2019
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: rs1857066
rs1857066
TNFSF4 ; LOC100506023
0.800 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989

2019
dbSNP: rs3790566
rs3790566
IL12RB2
T 0.800 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989

2019
dbSNP: rs3821236
rs3821236
STAT4
A 0.800 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989

2019
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.760 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs35677470
rs35677470
DNASE1L3
A 0.710 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
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: rs10174238
rs10174238
STAT4
0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs10954214
rs10954214
IRF5
T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs11066301
rs11066301
PTPN11
T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs11085725
rs11085725
TYK2
0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs11117420
rs11117420
LINC02132
0.700 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989

2019
dbSNP: rs11217020
rs11217020
DDX6
0.700 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989

2019
dbSNP: rs112846137
rs112846137 		T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs11724804
rs11724804
DGKQ
A 0.700 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989

2019
dbSNP: rs1217393
rs1217393
AP4B1-AS1
0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs13101828
rs13101828
DGKQ
G 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs13238352
rs13238352
TNPO3
T 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs13389408
rs13389408
STAT4
C 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases. 30573655

2019
dbSNP: rs1378942
rs1378942
CSK
C 0.700 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989

2019
dbSNP: rs16832798
rs16832798
NAB1
C 0.700 GeneticVariation GWASCAT GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. 31672989

2019
dbSNP: rs17424921
rs17424921 		C 0.700 GeneticVariation GWASCAT Analysis of the genetic component of systemic sclerosis in Iranian and Turkish populations through a genome-wide association study. 30247649

2019