Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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: rs12524487
rs12524487
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		T 0.720 GeneticVariation GWASCAT Identification of multiple genetic susceptibility loci in Takayasu arteritis. 23830517

2013
dbSNP: rs10919543
rs10919543
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		G 0.720 GeneticVariation GWASCAT In addition, we identified and confirmed a genetic association between Takayasu arteritis and the FCGR2A/FCGR3A locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 × 10(-12)). 23830517

2013
dbSNP: rs10919543
rs10919543
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		0.720 GeneticVariation BEFREE In addition, we identified and confirmed a genetic association between Takayasu arteritis and the FCGR2A/FCGR3A locus on chromosome 1 (rs10919543, OR = 1.81, p = 5.89 × 10(-12)). 23830517

2013
dbSNP: rs113452171
rs113452171
HLA-DQB1-AS1
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		T 0.700 GeneticVariation GWASCAT Identification of multiple genetic susceptibility loci in Takayasu arteritis. 23830517

2013
dbSNP: rs6871626
rs6871626
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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: rs56167332
rs56167332
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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: rs104895476
rs104895476
NOD2
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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: rs2069837
rs2069837
IL6 ; IL6-AS1
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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
IL6 ; IL6-AS1
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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: rs12524487
rs12524487
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		T 0.720 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
RPS9
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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
RPS9
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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: rs9380141
rs9380141
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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: rs9271539
rs9271539
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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: rs7603494
rs7603494
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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
PCSK5
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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: rs4817984
rs4817984
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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: rs4713281
rs4713281
ZNRD1ASP
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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: rs4463283
rs4463283
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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: rs4410768
rs4410768
CDSN ; PSORS1C1
CUI: C0039263
Disease: Takayasu Arteritis
Takayasu Arteritis 		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