Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C1096116
Disease:
Acquired haemophilia
0.010 GeneticVariation BEFREE Increased frequency of the CTLA-4 49 A/G polymorphism in patients with acquired haemophilia A compared to healthy controls. 18081831 2008
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0701807
Disease:
Acute anterior uveitis
0.010 GeneticVariation BEFREE There was no significant association between PTPN22 620W, CTLA-4 -318C/T, or CTLA-4 49A/G and AAU. 19180256 2009
dbSNP: rs4553808
rs4553808
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0856825
Disease:
Acute GVH disease
0.010 GeneticVariation BEFREE We tested the hypothesis that SNP rs4553808 is associated with RFS, OS, nonrelapse mortality (NRM) and the cumulative incidence of acute graft-versus-host disease (GVHD) and chronic GVHD in adults with acute myeloid leukemia and advanced myelodysplastic syndrome undergoing a first 8/8 or 7/8 HLA-matched unrelated donor HSCT. 24631737 2014
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0085669
Disease:
Acute leukemia
0.010 GeneticVariation BEFREE Eighty-eight children with acute leukemia and their donors were genotyped of CTLA-4 gene for rs231775. 30465728 2019
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE 153 donors and 153 children with acute lymphoblastic leukemia, acute myeloid leukemia or juvenile myelomonocytic leukemia who had undergone allogeneic HSCT were genotyped of CTLA-4 gene for rs3087243 (CT60G>A), rs231775 (+ 49 A>G) and rs4553808 using TaqMan real-time polymerase chain reaction. 29335768 2018
dbSNP: rs4553808
rs4553808
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0023449
Disease:
Acute lymphocytic leukemia
0.010 GeneticVariation BEFREE 153 donors and 153 children with acute lymphoblastic leukemia, acute myeloid leukemia or juvenile myelomonocytic leukemia who had undergone allogeneic HSCT were genotyped of CTLA-4 gene for rs3087243 (CT60G>A), rs231775 (+ 49 A>G) and rs4553808 using TaqMan real-time polymerase chain reaction. 29335768 2018
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0271737
Disease:
Addison's disease due to autoimmunity
0.010 GeneticVariation BEFREE The G-allele of SNP rs231775 in CTLA-4 is associated with AAD in Norwegian patients (odds ratio (OR)=1.35 (confidence interval (CI) 1.10-1.66), P=0.004), but not in UK patients. 26204230 2015
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0206681
Disease:
Adenocarcinoma, Clear Cell
0.010 GeneticVariation BEFREE The strongest associations were found for endometrioid carcinoma and IL2RA SNPs rs11256497 [HR, 1.42; 95% confidence interval (CI), 1.22-1.64; P = 5.7 × 10(-6)], rs791587 (HR, 1.36; 95% CI, 1.17-1.57; P = 6.2 × 10(-5)), rs2476491 (HR, = 1.40; 95% CI, 1.19-1.64; P = 5.6 × 10(-5)), and rs10795763 (HR, 1.35; 95% CI, 1.17-1.57; P = 7.9 × 10(-5)), and for clear cell carcinoma and CTLA4 SNP rs231775 (HR, 0.67; 95% CI, 0.54-0.82; P = 9.3 × 10(-5)) after adjustment for age, study site, population stratification, stage, grade, and oral contraceptive use. 24764580 2014
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0162309
Disease:
Adrenoleukodystrophy
0.010 GeneticVariation BEFREE To determine whether the functional A49G polymorphism of cytotoxic T-lymphocyte antigen-4 (CTLA-4), a T-cell surface molecule that modulates T-lymphocyte activation and influences the risk of developing alcohol-induced autoantibodies, plays a role in susceptibility to alcoholic liver disease (ALD) and influences disease severity in Italian alcohol abusers. 15208156 2004
dbSNP: rs4553808
rs4553808
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C3900098
Disease:
Adult Myelodysplastic Syndrome
0.010 GeneticVariation BEFREE We tested the hypothesis that SNP rs4553808 is associated with RFS, OS, nonrelapse mortality (NRM) and the cumulative incidence of acute graft-versus-host disease (GVHD) and chronic GVHD in adults with acute myeloid leukemia and advanced myelodysplastic syndrome undergoing a first 8/8 or 7/8 HLA-matched unrelated donor HSCT. 24631737 2014
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0023896
Disease:
Alcoholic Liver Diseases
0.010 GeneticVariation BEFREE Cytotoxic T-lymphocyte antigen-4 A49G polymorphism is associated with susceptibility to and severity of alcoholic liver disease in Italian patients. 15208156 2004
dbSNP: rs1207011218
rs1207011218
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0155877
Disease:
Allergic asthma
0.010 GeneticVariation BEFREE We genotyped 272 children with atopic asthma, 54 children with nonatopic asthma (NAA), and 254 control children for allelic determinants at two polymorphic sites in the region at positions promoter - 318 C > T and exon 1 + 49 G > A using restriction fragment length polymorphism methods. 17469155 2007
dbSNP: rs3087243
rs3087243
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C2607914
Disease:
Allergic rhinitis (disorder)
0.010 GeneticVariation BEFREE For CTLA-4, AA genotype and A allele in rs3087243 and rs231725 were increased in AR with asthma group while in AR group, AA genotype and A allele in rs231725 were obviously decreased. 27917628 2016
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0002171
Disease:
Alopecia Areata
G 0.700 GeneticVariation GWASCAT Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci. 25608926 2015
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C1845052
Disease:
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
0.010 GeneticVariation BEFREE CTLA-4 exon-1 +49A > G (rs231775) polymorphism has been reported to influence the risk for primary biliary cirrhosis (PBC) as well as type I autoimmune hepatitis (AIH-1) in many studies; however, the results still remain controversial and ambiguous. 25942345 2015
dbSNP: rs5742909
rs5742909
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0002895
Disease:
Anemia, Sickle Cell
0.010 GeneticVariation BEFREE We hypothesize that there is a significant interethnic diversity in the CD14 (rs2569190), CD28 (rs35593994), CTLA-4 (rs5742909) and ICOS (rs4404254) gene polymorphisms among and between SCD groups. 31474499 2019
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0038013
Disease:
Ankylosing spondylitis
0.010 GeneticVariation BEFREE The genotype analysis showed that AA genotype of + 49A/G polymorphism could increase the risk for AS (OR=2.357, 95% CI=1.127-4.930). 26261646 2015
dbSNP: rs3087243
rs3087243
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0038013
Disease:
Ankylosing spondylitis
0.010 GeneticVariation BEFREE Association of the HLA-B27 antigen and the CTLA4 gene CT60/rs3087243 polymorphism with ankylosing spondylitis in Algerian population: A case-control study. 29675891 2018
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0002874
Disease:
Aplastic Anemia
0.020 GeneticVariation BEFREE The GG genotype of SNP rs231775 in CTLA-4 gene might be associated with AA risk in the Chinese population. 27036622 2016
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0002874
Disease:
Aplastic Anemia
0.020 GeneticVariation BEFREE This study indicates that the polymorphisms -318C > T and 49A > G of CTLA4 do not affect the risk of developing AA and do not influence the response to immunosuppression. 15812539 2005
dbSNP: rs3087243
rs3087243
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0003615
Disease:
Appendicitis
0.010 GeneticVariation BEFREE Associations with appendicitis were found for SNPs IL-13 rs1800925 with odds ratio (OR) 6.02 (95% CI 1.52-23.78) for T/T versus C/C + T/T, for IL-17 rs2275913 with OR 2.38 (CI 1.24-4.57) for A/A vs G/G + GA, for CCL22 rs223888 with OR 0.12 (0.02-0.90), and for A/A vs G/G + GA. Signs of effect modification of age for the association with appendicitis were found for IL-13 rs1800925 and CTLA4 rs3087243. 31845023 2020
dbSNP: rs3087243
rs3087243
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0004096
Disease:
Asthma
0.020 GeneticVariation BEFREE For CTLA-4, AA genotype and A allele in rs3087243 and rs231725 were increased in AR with asthma group while in AR group, AA genotype and A allele in rs231725 were obviously decreased. 27917628 2016
dbSNP: rs3087243
rs3087243
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0004096
Disease:
Asthma
0.020 GeneticVariation BEFREE We genotyped CTLA4 CT60 (rs3087243) functional single nucleotide polymorphism (SNP) in children with asthma and in healthy controls and correlated the genotype data with asthma clinical data, including treatment response with inhaled corticosteroids measured by forced expiratory volume in the first second (FEV(1)). 19895365 2010
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide polymorphisms (SNPs) from eight candidate genes (IL-4 rs2243250, IL-4Rα rs1805010, IL-13 rs20541, IL-13Rα1 rs2495636, CD14 rs2569190, tumor necrosis factor-alpha (TNF-α) rs1800629, cytotoxic T lymphocyte-associated antigen (CTLA4) rs231775, FCER1B rs1441585) in children with asthma and to evaluate gene-gene interactions. 22376040 2012
dbSNP: rs3087243
rs3087243
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C1272321
Disease:
Autoantibody measurement
A 0.700 GeneticVariation GWASDB Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393 2011