Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2187668
rs2187668
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0241910
Disease:
Autoimmune Chronic Hepatitis
0.710 GeneticVariation BEFREE We associated AIH with a variant in the major histocompatibility complex region at rs2187668 (P = 1.5 × 10(-78)). 24768677 2014
dbSNP: rs9272729
rs9272729
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0017665
Disease:
Membranous glomerulonephritis
0.710 GeneticVariation BEFREE In GWAS, lead variants in known loci [rs9272729, HLA-DQA1, odds ratio (OR) = 7.3 per risk allele, P = 5.9 × 10<sup>-27</sup> and rs17830558, PLA2R1, OR = 2.2, P = 1.9 × 10<sup>-8</sup>] were significantly associated with MN. 27333618 2017
dbSNP: rs9276370
rs9276370
Entrez Id: 3118
Gene Symbol: HLA-DQA2
HLA-DQA2
CUI: C0019163
Disease:
Hepatitis B
0.710 GeneticVariation BEFREE We found that rs9277535 (HLA-DPB1, P = 4.87×10(-14)), rs9276370 (HLA-DQA2, P = 1.9×10(-12)), rs7756516 and rs7453920 (HLA-DQB2, P = 1.48×10(-11) and P = 6.66×10(-15) respectively) were significantly associated with persistent HBV infection. 24940741 2014
dbSNP: rs2187668
rs2187668
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0086445
Disease:
Idiopathic Membranous Glomerulonephritis
0.040 GeneticVariation BEFREE Our pooled analysis showed a significant association between rs2187668-(A) allele and iMN susceptibility, and the intervention of this mutation might bring new therapeutic strategy for iMN. 30383665 2018
dbSNP: rs2187668
rs2187668
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0086445
Disease:
Idiopathic Membranous Glomerulonephritis
0.040 GeneticVariation BEFREE Even under dominant model, the two SNPs were still significantly associated with IMN (P = 3.50×10-3 for rs28383345 and P = 6.55×10-5 for rs2187668). 28685717 2017
dbSNP: rs2187668
rs2187668
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0086445
Disease:
Idiopathic Membranous Glomerulonephritis
0.040 GeneticVariation BEFREE We believe this will be a valuable technique for determining the genotype of rs2187668 and rs4664308 and for assessing individual susceptibility to IMN. 23194743 2013
dbSNP: rs2187668
rs2187668
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0086445
Disease:
Idiopathic Membranous Glomerulonephritis
0.040 GeneticVariation BEFREE Allelic frequency distributions for SNP rs2187668 within HLA-DQA1 were significantly different between the iMN and control groups. 28849274 2018
dbSNP: rs1071630
rs1071630
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0403396
Disease:
Steroid-sensitive nephrotic syndrome
0.020 GeneticVariation BEFREE The 2 HLA-DQA1 variants were significantly associated with SSNS in African American children (C34Y: P=5.7 × 10<sup>-11</sup>; OR, 3.53; 95% CI, 2.33-5.42; F41S: P=1.2 × 10<sup>-13</sup>; OR, 4.08; 95% CI, 2.70-6.28), but not with SRNS (C34Y: P=0.6; F41S: P=0.2). 29277510 2018
dbSNP: rs1071630
rs1071630
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0403396
Disease:
Steroid-sensitive nephrotic syndrome
0.020 GeneticVariation BEFREE Two of these SNPs-the missense variants C34Y (rs1129740) and F41S (rs1071630) in HLA-DQA1-were replicated in an independent cohort of children of white European ancestry with SSNS (100 cases and ≤589 controls; P=1.42×10(-17)). 25349203 2015
dbSNP: rs1129740
rs1129740
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0403396
Disease:
Steroid-sensitive nephrotic syndrome
0.020 GeneticVariation BEFREE The 2 HLA-DQA1 variants were significantly associated with SSNS in African American children (C34Y: P=5.7 × 10<sup>-11</sup>; OR, 3.53; 95% CI, 2.33-5.42; F41S: P=1.2 × 10<sup>-13</sup>; OR, 4.08; 95% CI, 2.70-6.28), but not with SRNS (C34Y: P=0.6; F41S: P=0.2). 29277510 2018
dbSNP: rs1129740
rs1129740
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0403396
Disease:
Steroid-sensitive nephrotic syndrome
0.020 GeneticVariation BEFREE Two of these SNPs-the missense variants C34Y (rs1129740) and F41S (rs1071630) in HLA-DQA1-were replicated in an independent cohort of children of white European ancestry with SSNS (100 cases and ≤589 controls; P=1.42×10(-17)). 25349203 2015
dbSNP: rs9272785
rs9272785
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0041296
Disease:
Tuberculosis
0.020 GeneticVariation BEFREE We found association of three variants in the region harboring genes encoding the class II human leukocyte antigens (HLAs): rs557011[T] (minor allele frequency (MAF) = 40.2%), associated with M. tuberculosis infection (odds ratio (OR) = 1.14, P = 3.1 × 10(-13)) and PTB (OR = 1.25, P = 5.8 × 10(-12)), and rs9271378[G] (MAF = 32.5%), associated with PTB (OR = 0.78, P = 2.5 × 10(-12))--both located between HLA-DQA1 and HLA-DRB1--and a missense variant encoding p.Ala210Thr in HLA-DQA1 (MAF = 19.1%, rs9272785), associated with M. tuberculosis infection (P = 9.3 × 10(-9), OR = 1.14). 26829749 2016
dbSNP: rs9272785
rs9272785
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0041296
Disease:
Tuberculosis
0.020 GeneticVariation BEFREE While no significant association was found in the whole samples, a SNP of HLA-DQA1, rs9272785, showed suggestive association within the young-onset TB subgroup (onset at 20-40 years of age, N = 396). 30553063 2019
dbSNP: rs1071630
rs1071630
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0023343
Disease:
Leprosy
0.010 GeneticVariation BEFREE We have conducted an association analysis of more than 1,500 individuals from different case-control and family studies, and observed consistent associations between genetic variants in both TLR1 and the HLA-DRB1/DQA1 regions with susceptibility to leprosy (TLR1 I602S, case-control P = 5.7 x 10(-8), OR = 0.31, 95% CI = 0.20-0.48, and HLA-DQA1 rs1071630, case-control P = 4.9 x 10(-14), OR = 0.43, 95% CI = 0.35-0.54). 20617178 2010
dbSNP: rs1071630
rs1071630
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C3266102
Disease:
Steroid resistant nephrotic syndrome of childhood
0.010 GeneticVariation BEFREE The 2 HLA-DQA1 variants were significantly associated with SSNS in African American children (C34Y: P=5.7 × 10<sup>-11</sup>; OR, 3.53; 95% CI, 2.33-5.42; F41S: P=1.2 × 10<sup>-13</sup>; OR, 4.08; 95% CI, 2.70-6.28), but not with SRNS (C34Y: P=0.6; F41S: P=0.2). 29277510 2018
dbSNP: rs1071630
rs1071630
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0403397
Disease:
Steroid-resistant nephrotic syndrome
0.010 GeneticVariation BEFREE The 2 HLA-DQA1 variants were significantly associated with SSNS in African American children (C34Y: P=5.7 × 10<sup>-11</sup>; OR, 3.53; 95% CI, 2.33-5.42; F41S: P=1.2 × 10<sup>-13</sup>; OR, 4.08; 95% CI, 2.70-6.28), but not with SRNS (C34Y: P=0.6; F41S: P=0.2). 29277510 2018
dbSNP: rs1129740
rs1129740
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C3266102
Disease:
Steroid resistant nephrotic syndrome of childhood
0.010 GeneticVariation BEFREE The 2 HLA-DQA1 variants were significantly associated with SSNS in African American children (C34Y: P=5.7 × 10<sup>-11</sup>; OR, 3.53; 95% CI, 2.33-5.42; F41S: P=1.2 × 10<sup>-13</sup>; OR, 4.08; 95% CI, 2.70-6.28), but not with SRNS (C34Y: P=0.6; F41S: P=0.2). 29277510 2018
dbSNP: rs1129740
rs1129740
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0403397
Disease:
Steroid-resistant nephrotic syndrome
0.010 GeneticVariation BEFREE The 2 HLA-DQA1 variants were significantly associated with SSNS in African American children (C34Y: P=5.7 × 10<sup>-11</sup>; OR, 3.53; 95% CI, 2.33-5.42; F41S: P=1.2 × 10<sup>-13</sup>; OR, 4.08; 95% CI, 2.70-6.28), but not with SRNS (C34Y: P=0.6; F41S: P=0.2). 29277510 2018
dbSNP: rs12722039
rs12722039
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0020550
Disease:
Hyperthyroidism
0.010 GeneticVariation BEFREE Evaluation of genotypes (HLA DRB1*03, DQA1*05, DQB1*02; CTLA4 49A/G, CT60 A/G; PTPN22 C/T) in relation to phenotypes (age, sex, severity (clinical, biochemical, and immunological)) of hyperthyroidism and environmental factors (smoking, stress questionnaires). 22968483 2012
dbSNP: rs12722039
rs12722039
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0007570
Disease:
Celiac Disease
0.010 GeneticVariation BEFREE To investigate CTLA-4 exon 1 polymorphism (position 49 A/G) in patients with coeliac disease. 10189842 1998
dbSNP: rs12722051
rs12722051
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C1384600
Disease:
Systemic onset juvenile chronic arthritis
0.010 GeneticVariation BEFREE Conditional analysis controlling for the effect of rs151043342 found that rs12722051 independently influenced sJIA risk [P = 1.0 × 10(-5), OR 0.7 (0.6, 0.8)]. 26598658 2015
dbSNP: rs1744
rs1744
Entrez Id: 3118
Gene Symbol: HLA-DQA2
HLA-DQA2
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE The interactions among rs1744 6614, BMI and duration of diabetes (OR: 2.63, 95%CI: 1.23-4.31) were also observed. 28860538 2017
dbSNP: rs1744
rs1744
Entrez Id: 3118
Gene Symbol: HLA-DQA2
HLA-DQA2
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE The interactions among rs1744 6614, BMI and duration of diabetes (OR: 2.63, 95%CI: 1.23-4.31) were also observed. 28860538 2017
dbSNP: rs2187668
rs2187668
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C4721555
Disease:
Autoimmune hepatitis
0.010 GeneticVariation BEFREE We associated AIH with a variant in the major histocompatibility complex region at rs2187668 (P = 1.5 × 10(-78)). 24768677 2014
dbSNP: rs28383345
rs28383345
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0086445
Disease:
Idiopathic Membranous Glomerulonephritis
0.010 GeneticVariation BEFREE Even under dominant model, the two SNPs were still significantly associated with IMN (P = 3.50×10-3 for rs28383345 and P = 6.55×10-5 for rs2187668). 28685717 2017