Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6498114
rs6498114
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0007570
Disease:
Celiac Disease
0.800 GeneticVariation GWASDB Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. 22057235 2011
dbSNP: rs6498114
rs6498114
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0007570
Disease:
Celiac Disease
0.800 GeneticVariation GWASCAT Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. 22057235 2011
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.780 GeneticVariation BEFREE Our data do not support an influence of MHCIITA rs3087456 and rs4774 polymorphisms in the increased risk of CV events of patients with RA. 22272574 2012
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.780 GeneticVariation BEFREE Meta-analysis of 16 RA cohorts confirmed rs3087456 with only marginal significance (P=0.016). 22513452 2012
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.780 GeneticVariation BEFREE Similar analysis of three independent RA cohorts from British, Dutch and Norwegian populations also indicated an absence of significant interaction between genetic variants in CIITA and SE alleles with regard to RA risk.Our data suggest that risk from the CIITA locus is independent of the major risk for RA from HLA-DRB1 SE alleles, given that no significant interaction between rs3087456 and SE alleles was observed. 22461888 2012
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.780 GeneticVariation BEFREE A promoter SNP -168A→G (rs3087456) has previously been shown to be associated with susceptibility to several immune mediated disorders, including rheumatoid arthritis (RA), multiple sclerosis (MS) and myocardial infarction (MI). 20942939 2010
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.780 GeneticVariation BEFREE Our results indicate that the MHC2TA -168A/G polymorphism (rs3087456) is not associated with RA yet underscore the importance of including shared epitope allele carrier status, secondary phenotypes and more complete characterisation of MHC2TA variation in future studies. 17875550 2008
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.780 GeneticVariation BEFREE A promoter polymorphism (-168A/G, rs3087456) in the MHC2TA gene was associated with increased susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction in a northern European population. 17012290 2007
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.780 GeneticVariation BEFREE MHC2TA promoter polymorphism (-168*G/A, rs3087456) is not associated with susceptibility to rheumatoid arthritis in British Caucasian rheumatoid arthritis patients. 16920747 2007
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.780 GeneticVariation BEFREE We analysed whether the single nucleotide polymorphism (SNP) rs3087456 in the promoter of the MHC class II transactivator (MHC2TA) gene is associated with manifestation of rheumatoid arthritis, multiple sclerosis, narcolepsy and Wegener granulomatosis. 16426246 2006
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0003873
Disease:
Rheumatoid Arthritis
G 0.780 SusceptibilityMutation CLINVAR
dbSNP: rs12325238
rs12325238
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0205682
Disease:
Waist-Hip Ratio
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs6498114
rs6498114
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0027439
Disease:
Nasopharyngeal Neoplasms
0.700 GeneticVariation GWASCAT An extended genome-wide association study identifies novel susceptibility loci for nasopharyngeal carcinoma. 27436580 2016
dbSNP: rs372826934
rs372826934
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C2931418
Disease:
Bare lymphocyte syndrome 2
A 0.700 CausalMutation CLINVAR Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome). 8402893 1993
dbSNP: rs137852602
rs137852602
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C1859534
Disease:
Bare Lymphocyte Syndrome, Type II, Complementation Group A
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555507411
rs1555507411
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C1859534
Disease:
Bare Lymphocyte Syndrome, Type II, Complementation Group A
G 0.700 CausalMutation CLINVAR
dbSNP: rs771073292
rs771073292
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C1859534
Disease:
Bare Lymphocyte Syndrome, Type II, Complementation Group A
A 0.700 CausalMutation CLINVAR
dbSNP: rs863223293
rs863223293
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C1859534
Disease:
Bare Lymphocyte Syndrome, Type II, Complementation Group A
A 0.700 CausalMutation CLINVAR
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0026769
Disease:
Multiple Sclerosis
0.040 GeneticVariation BEFREE A promoter SNP -168A→G (rs3087456) has previously been shown to be associated with susceptibility to several immune mediated disorders, including rheumatoid arthritis (RA), multiple sclerosis (MS) and myocardial infarction (MI). 20942939 2010
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0026769
Disease:
Multiple Sclerosis
0.040 GeneticVariation BEFREE In addition, the -168A/G CIITA promoter variant (rs3087456) has been reported to be associated with MS. 20211854 2010
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0026769
Disease:
Multiple Sclerosis
0.040 GeneticVariation BEFREE A promoter polymorphism (-168A/G, rs3087456) in the MHC2TA gene was associated with increased susceptibility to rheumatoid arthritis, multiple sclerosis and myocardial infarction in a northern European population. 17012290 2007
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0026769
Disease:
Multiple Sclerosis
0.040 GeneticVariation BEFREE We analysed whether the single nucleotide polymorphism (SNP) rs3087456 in the promoter of the MHC class II transactivator (MHC2TA) gene is associated with manifestation of rheumatoid arthritis, multiple sclerosis, narcolepsy and Wegener granulomatosis. 16426246 2006
dbSNP: rs4774
rs4774
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C0026769
Disease:
Multiple Sclerosis
0.030 GeneticVariation BEFREE We also confirm interaction between rs4774 and HLA-DRB1*15:01 such that individuals carrying the risk allele for rs4774 and HLA-DRB1*15:01 have a higher than expected risk for MS. 24430172 2014
dbSNP: rs3087456
rs3087456
Entrez Id: 4261;105371080
Gene Symbol: CIITA;LOC105371080
CIITA;LOC105371080
CUI: C0004364
Disease:
Autoimmune Diseases
0.030 GeneticVariation BEFREE A CIITA promoter single-nucleotide polymorphism (SNP), rs3087456 (-168 A/G), has indeed been associated with several autoimmune diseases, including rheumatoid arthritis (RA). 22513452 2012
dbSNP: rs4774
rs4774
Entrez Id: 4261
Gene Symbol: CIITA
CIITA
CUI: C0026769
Disease:
Multiple Sclerosis
0.030 GeneticVariation BEFREE Recently the rs4774 CIITA missense variant (+1632G/C) was reported to be associated with susceptibility to multiple sclerosis. 21614020 2011