Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9380141
rs9380141 		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: rs9366782
rs9366782 		0.010 GeneticVariation BEFREE Our findings indicated that rs12524487 in HLA-B/MICA was a genetic risk factor for TA in a Chinese Han population and rs9366782 in this region was associated with ischemic brain disease in TA but not TA susceptibility. 28261975

2018
dbSNP: rs9271539
rs9271539 		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: rs9266745
rs9266745 		G 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: rs8111
rs8111
ATF6B ; TNXB
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: rs7843437
rs7843437 		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: rs7743661
rs7743661
DDR1 ; MIR4640
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: rs763780
rs763780
IL17F
0.010 GeneticVariation BEFREE G allele of rs763780 in IL-17F gene was protectively associated against susceptibility to TA. 28438554

2018
dbSNP: rs7603494
rs7603494 		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: rs6871626
rs6871626 		0.050 GeneticVariation BEFREE A previous study revealed the association between susceptibility to Takayasu arteritis (TAK) and a single nucleotide polymorphism (SNP) rs6871626 located in IL12B, which encodes interleukin (IL)-12p40, a common component of IL-12p70 and IL-23. 28874185

2017
dbSNP: rs6871626
rs6871626 		0.050 GeneticVariation BEFREE Thus, our study points to potential diagnostic use of SNP rs6871626 for predicting disease severity of TAK, with the goal of genotyping-oriented therapy in the near future. 25783557

2016
dbSNP: rs6871626
rs6871626 		0.050 GeneticVariation BEFREE We also found that rs6871626 showed a significant association with clinical manifestations of TAK, including increased risk and severity of aortic regurgitation, a representative severe complication of TAK. 23830516

2013
dbSNP: rs6871626
rs6871626 		0.050 GeneticVariation BEFREE IL12B rs6871626 did not show an association with IBD-TA compared with that with TA without IBD. 28449344

2017
dbSNP: rs6871626
rs6871626 		0.050 GeneticVariation BEFREE We demonstrated a allele association between the four SNPs of IL12B and TA (rs6871626: OR 1.52, 95% CI 1.26-1.83; rs4921492: OR 1.46, 95% CI 1.21-1.75; rs60689680: OR 1.41, 95% CI 1.17-1.69; rs4921493: OR 1.45, 95% CI 1.21-1.75, all P <sub>c</sub>  < 10<sup>- 3</sup> ). 28160070

2017
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: rs6560480
rs6560480
PCSK5
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: rs60689680
rs60689680 		0.010 GeneticVariation BEFREE We demonstrated a allele association between the four SNPs of IL12B and TA (rs6871626: OR 1.52, 95% CI 1.26-1.83; rs4921492: OR 1.46, 95% CI 1.21-1.75; rs60689680: OR 1.41, 95% CI 1.17-1.69; rs4921493: OR 1.45, 95% CI 1.21-1.75, all P <sub>c</sub>  < 10<sup>- 3</sup> ). 28160070

2017
dbSNP: rs582054
rs582054
IL12A ; IL12A-AS1
0.010 GeneticVariation BEFREE However, a trend for IL12A rs582054 and IL23R rs1004819 in association with the TA phenotype was detected. 26987707

2016
dbSNP: rs56167332
rs56167332 		0.020 GeneticVariation BEFREE We also established the genetic association between IL12B and Takayasu arteritis (rs56167332, OR = 1.54, p = 2.18 × 10(-8)). 23830517

2013
dbSNP: rs56167332
rs56167332 		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: rs4921493
rs4921493 		0.010 GeneticVariation BEFREE We demonstrated a allele association between the four SNPs of IL12B and TA (rs6871626: OR 1.52, 95% CI 1.26-1.83; rs4921492: OR 1.46, 95% CI 1.21-1.75; rs60689680: OR 1.41, 95% CI 1.17-1.69; rs4921493: OR 1.45, 95% CI 1.21-1.75, all P <sub>c</sub>  < 10<sup>- 3</sup> ). 28160070

2017
dbSNP: rs4921492
rs4921492 		0.010 GeneticVariation BEFREE We demonstrated a allele association between the four SNPs of IL12B and TA (rs6871626: OR 1.52, 95% CI 1.26-1.83; rs4921492: OR 1.46, 95% CI 1.21-1.75; rs60689680: OR 1.41, 95% CI 1.17-1.69; rs4921493: OR 1.45, 95% CI 1.21-1.75, all P <sub>c</sub>  < 10<sup>- 3</sup> ). 28160070

2017
dbSNP: rs4817988
rs4817988 		G 0.700 GeneticVariation GWASCAT Genetic determinants and an epistasis of LILRA3 and HLA-B*52 in Takayasu arteritis. 30498034

2018
dbSNP: rs4817984
rs4817984 		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