Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4713281
rs4713281
A 0.700 GeneticVariation GWASCAT Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. 25604533

2015

dbSNP: rs11666543
rs11666543
0.710 GeneticVariation BEFREE We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)). 25604533

2015

dbSNP: rs11666543
rs11666543
0.710 GeneticVariation GWASCAT We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)). 25604533

2015

dbSNP: rs12980600
rs12980600
0.700 GeneticVariation GWASCAT Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. 25604533

2015

dbSNP: rs2476601
rs2476601
0.020 GeneticVariation BEFREE Totally, 181 patients with TA and 177 healthy controls are genotyped by PCR-RFLP method for the SNP rs2476601 (A/G) of PTPN22 gene. 18375974

2008

dbSNP: rs2476601
rs2476601
0.020 GeneticVariation BEFREE This is the first report documenting an association between PTPN22 R620W and TA. 30470857

2019

dbSNP: rs33996649
rs33996649
0.010 GeneticVariation BEFREE Our data showed that the PTPN22 R620W polymorphism is a risk factor for TA (CC vs. CT: OR 4.3, p = 0.002, and C vs. T: OR 4.1, p = 0.003); however, the PTPN22 R263Q and - 1123G/C polymorphisms are not associated with this AD. 30470857

2019

dbSNP: rs2322599
rs2322599
G 0.700 GeneticVariation GWASCAT Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis. 30498034

2018

dbSNP: rs2736173
rs2736173
A 0.700 GeneticVariation GWASCAT Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. 25604533

2015

dbSNP: rs6560480
rs6560480
C 0.700 GeneticVariation GWASCAT Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. 25604533

2015

dbSNP: rs104895476
rs104895476
0.010 GeneticVariation BEFREE A case of infantile Takayasu arteritis with a p.D382E NOD2 mutation: an unusual phenotype of Blau syndrome/early-onset sarcoidosis? 22821420

2013

dbSNP: rs28399987
rs28399987
A 0.700 GeneticVariation GWASCAT Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. 25604533

2015

dbSNP: rs665268
rs665268
MLX
0.020 GeneticVariation BEFREE MLX-Q139R mutation plays a crucial role in the pathogenesis of TAK through promoting inflammasome formation. 30354298

2018

dbSNP: rs665268
rs665268
MLX
0.020 GeneticVariation BEFREE Four single nucleotide polymorphisms (SNPs) those locate in the IL12B region (rs56167332), the MLX region (rs665268), the FCGR2A/FCGR3A locus (rs10919543), and the HLA-B/MICA locus (rs12524487), associated with TA in different population, were genotyped in 123 Chinese TA patients and 147 healthy controls from January 2013 to August 2014. 26996483

2016

dbSNP: rs114202986
rs114202986
0.010 GeneticVariation BEFREE However, rs3763288 and rs114202986 in MICA were negatively related to TA either as a whole or in any clinical features. 28261975

2018

dbSNP: rs3763288
rs3763288
0.010 GeneticVariation BEFREE However, rs3763288 and rs114202986 in MICA were negatively related to TA either as a whole or in any clinical features. 28261975

2018

dbSNP: rs12047961
rs12047961
A 0.700 GeneticVariation GWASCAT Identification of Susceptibility Loci in IL6, RPS9/LILRB3, and an Intergenic Locus on Chromosome 21q22 in Takayasu Arteritis in a Genome-Wide Association Study. 25604533

2015

dbSNP: rs1713450
rs1713450
C 0.700 GeneticVariation GWASCAT Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis. 30498034

2018

dbSNP: rs1800795
rs1800795
0.010 GeneticVariation BEFREE GG genotypes of rs1800795 in IL-6 was also associated with occurrence of tuberculosis in our patients with TA. 28438554

2018

dbSNP: rs2069837
rs2069837
0.720 GeneticVariation GWASCAT We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)). 25604533

2015

dbSNP: rs2069837
rs2069837
0.720 GeneticVariation BEFREE Previous work has revealed a genetic association between Takayasu arteritis and a non-coding genetic variant in an enhancer region within <i>IL6</i> (rs2069837 A/G). 31315839

2019

dbSNP: rs2069837
rs2069837
0.720 GeneticVariation BEFREE We identified genetic susceptibility loci for Takayasu arteritis with a genome-wide level of significance in IL6 (rs2069837) (odds ratio [OR] 2.07, P = 6.70 × 10(-9)), RPS9/LILRB3 (rs11666543) (OR 1.65, P = 2.34 × 10(-8)), and an intergenic locus on chromosome 21q22 (rs2836878) (OR 1.79, P = 3.62 × 10(-10)). 25604533

2015

dbSNP: rs1004819
rs1004819
0.010 GeneticVariation BEFREE However, a trend for IL12A rs582054 and IL23R rs1004819 in association with the TA phenotype was detected. 26987707

2016

dbSNP: rs763780
rs763780
0.010 GeneticVariation BEFREE G allele of rs763780 in IL-17F gene was protectively associated against susceptibility to TA. 28438554

2018

dbSNP: rs582054
rs582054
0.010 GeneticVariation BEFREE However, a trend for IL12A rs582054 and IL23R rs1004819 in association with the TA phenotype was detected. 26987707

2016