Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9272105
rs9272105
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C2239176
Disease:
Liver carcinoma
0.810 GeneticVariation BEFREE Through stepwise regression analysis, HBV genotype, the 11 mutations, HLA-DQ/DR SNPs, and the interaction of rs9272105 with mutation A1752G were all entered into the HCC prediction model, and the area under the curve for the panel including the HLA-DQ/DR SNPs, HBV genotype and mutations was 0.840. 26568165 2015
dbSNP: rs9272346
rs9272346
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0004096
Disease:
Asthma
0.810 GeneticVariation GWASCAT Of these, a common polymorphism (rs9272346) localizing to within 1 Kb of HLA-DQA1 (chromosome 6p21.3) was associated with asthma in adults (P-value = 2.2E-08) with consistent evidence in the more heterogeneous group of adults and children (P-value = 1.0E-04). 23181788 2012
dbSNP: rs9272346
rs9272346
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.810 GeneticVariation BEFREE Our results showed significant association of 10 single nucleotide polymorphisms (SNPs) with T1D at p<0.01, including HLA-DQA1/rs9272346, ERBB3/rs2292239, SIRPG/rs2281808, IL2-KIAA1109/rs4505848, GLIS3/rs7020673, CD226/rs763361, PTPN2/rs478582, IKZF1/rs10272724, BACH2/rs11755527, C6orf173/rs9388489, whereas 5 more SNPs showed their association at 0.01<p<0.05 in Pakistani population. 25661663 2015
dbSNP: rs9272346
rs9272346
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0004096
Disease:
Asthma
0.810 GeneticVariation GWASDB Of these, a common polymorphism (rs9272346) localizing to within 1 Kb of HLA-DQA1 (chromosome 6p21.3) was associated with asthma in adults (P-value = 2.2E-08) with consistent evidence in the more heterogeneous group of adults and children (P-value = 1.0E-04). 23181788 2012
dbSNP: rs9272346
rs9272346
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0004096
Disease:
Asthma
0.810 GeneticVariation BEFREE Of these, a common polymorphism (rs9272346) localizing to within 1 Kb of HLA-DQA1 (chromosome 6p21.3) was associated with asthma in adults (P-value = 2.2E-08) with consistent evidence in the more heterogeneous group of adults and children (P-value = 1.0E-04). 23181788 2012
dbSNP: rs17843604
rs17843604
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0004096
Disease:
Asthma
0.800 GeneticVariation GWASCAT Large-scale, multiethnic genome-wide association study identifies novel loci contributing to asthma susceptibility in adults. 30578877 2019
dbSNP: rs17843604
rs17843604
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0004096
Disease:
Asthma
0.800 GeneticVariation GWASDB A large-scale, consortium-based genomewide association study of asthma. 20860503 2010
dbSNP: rs2187668
rs2187668
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0017665
Disease:
Membranous glomerulonephritis
0.800 GeneticVariation GWASDB Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathy. 21323541 2011
dbSNP: rs2187668
rs2187668
Entrez Id: 3117;3118;107986589
Gene Symbol: HLA-DQA1;HLA-DQA2;LOC107986589
HLA-DQA1;HLA-DQA2;LOC107986589
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.800 GeneticVariation GWASCAT Identification of a New Susceptibility Locus for Systemic Lupus Erythematosus on Chromosome 12 in Individuals of European Ancestry. 26316170 2016
dbSNP: rs6927022
rs6927022
Entrez Id: 3117;107986589
Gene Symbol: HLA-DQA1;LOC107986589
HLA-DQA1;LOC107986589
CUI: C0009324
Disease:
Ulcerative Colitis
0.800 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
dbSNP: rs9272143
rs9272143
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0302592
Disease:
Cervix carcinoma
0.720 GeneticVariation GWASCAT Defining the genetic susceptibility to cervical neoplasia-A genome-wide association study. 28806749 2017
dbSNP: rs9272143
rs9272143
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0302592
Disease:
Cervix carcinoma
0.720 GeneticVariation GWASCAT Three independent loci in the major histocompatibility complex (MHC) region at 6p21.3 were associated with cervical cancer: the first is adjacent to the MHC class I polypeptide-related sequence A gene (MICA) (rs2516448; OR = 1.42, 95% CI = 1.31 to 1.54; P = 1.6×10(-18)); the second is between HLA-DRB1 and HLA-DQA1 (rs9272143; OR = 0.67, 95% CI = 0.62 to 0.72; P = 9.3×10(-24)); and the third is at HLA-DPB2 (rs3117027; OR=1.25, 95% CI = 1.15 to 1.35; P = 4.9×10(-8)). 23482656 2013
dbSNP: rs9272143
rs9272143
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C4048328
Disease:
cervical cancer
0.720 GeneticVariation GWASDB Three independent loci in the major histocompatibility complex (MHC) region at 6p21.3 were associated with cervical cancer: the first is adjacent to the MHC class I polypeptide-related sequence A gene (MICA) (rs2516448; OR = 1.42, 95% CI = 1.31 to 1.54; P = 1.6×10(-18)); the second is between HLA-DRB1 and HLA-DQA1 (rs9272143; OR = 0.67, 95% CI = 0.62 to 0.72; P = 9.3×10(-24)); and the third is at HLA-DPB2 (rs3117027; OR=1.25, 95% CI = 1.15 to 1.35; P = 4.9×10(-8)). 23482656 2013
dbSNP: rs9272143
rs9272143
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C4048328
Disease:
cervical cancer
0.720 GeneticVariation BEFREE The C allele of rs9272143 conferred protection against cervical cancer (odds ratio [OR] = 0.73, 95% confidence interval [CI] = 0.65-0.82; P = 1.6 × 10(-7)), which is associated with higher expression level of HLA-DRB1, whereas the T allele of rs2516448 increased the susceptibility to cervical cancer (OR = 1.33, 95% CI = 1.19-1.49; P = 5.8 × 10(-7)), with the same association shown with MICA-A5.1. 24403192 2014
dbSNP: rs9272143
rs9272143
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C4048328
Disease:
cervical cancer
0.720 GeneticVariation BEFREE Variation in LD between the classic HLA loci, rs9272143 and rs67841474 between populations may explain the different associations of HLA-B*07 and DRB1*1501-DQB1*0602 with cervical cancer between studies. 24520070 2014
dbSNP: rs9272143
rs9272143
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0302592
Disease:
Cervix carcinoma
0.720 GeneticVariation BEFREE Variation in LD between the classic HLA loci, rs9272143 and rs67841474 between populations may explain the different associations of HLA-B*07 and DRB1*1501-DQB1*0602 with cervical cancer between studies. 24520070 2014
dbSNP: rs9272143
rs9272143
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0302592
Disease:
Cervix carcinoma
0.720 GeneticVariation BEFREE The C allele of rs9272143 conferred protection against cervical cancer (odds ratio [OR] = 0.73, 95% confidence interval [CI] = 0.65-0.82; P = 1.6 × 10(-7)), which is associated with higher expression level of HLA-DRB1, whereas the T allele of rs2516448 increased the susceptibility to cervical cancer (OR = 1.33, 95% CI = 1.19-1.49; P = 5.8 × 10(-7)), with the same association shown with MICA-A5.1. 24403192 2014
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: 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 GWASCAT Genome-wide association study identifies variants associated with autoimmune hepatitis type 1. 24768677 2014
dbSNP: rs9272219
rs9272219
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.710 GeneticVariation GWASDB Pathway-driven gene stability selection of two rheumatoid arthritis GWAS identifies and validates new susceptibility genes in receptor mediated signalling pathways. 21653640 2011
dbSNP: rs9272219
rs9272219
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.710 GeneticVariation GWASDB A genome-wide association study suggests contrasting associations in ACPA-positive versus ACPA-negative rheumatoid arthritis. 21156761 2011
dbSNP: rs9272219
rs9272219
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.710 GeneticVariation BEFREE We found significant association between rs9272219 and RA of Chinese population (OR 0.494, 95% confidence interval [95% CI] 0.354-0.688, P = 0 and OR 2.541, 95% CI 1.695-3.808, P = 0, respectively). 25550865 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: rs114549185
rs114549185
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0036202
Disease:
Sarcoidosis
0.700 GeneticVariation GWASDB Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. 22952805 2012
dbSNP: rs114798579
rs114798579
Entrez Id: 3117
Gene Symbol: HLA-DQA1
HLA-DQA1
CUI: C0036202
Disease:
Sarcoidosis
0.700 GeneticVariation GWASDB Genome-wide association study of African and European Americans implicates multiple shared and ethnic specific loci in sarcoidosis susceptibility. 22952805 2012