Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1357409506
rs1357409506
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C4015214
Disease:
CTLA4 Haploinsufficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs1553657430
rs1553657430
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C4015214
Disease:
CTLA4 Haploinsufficiency
A 0.700 CausalMutation CLINVAR
dbSNP: rs3087243
rs3087243
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C1857845
Disease:
CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (finding)
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs3087243
rs3087243
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C1833450
Disease:
HASHIMOTO THYROIDITIS, SUSCEPTIBILITY TO
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs606231422
rs606231422
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C4015214
Disease:
CTLA4 Haploinsufficiency
0.700 GeneticVariation UNIPROT
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0018213
Disease:
Graves Disease
0.100 GeneticVariation BEFREE (i) Allele G and G/G genotype confer genetic susceptibility to GD; (ii) CTLA-4 A49G polymorphism is not associated with the development of GO; (iii) different non-genetic factors may contribute to GO in different populations. 12534352 2003
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0339143
Disease:
Thyroid associated opthalmopathies
0.030 GeneticVariation BEFREE (i) Allele G and G/G genotype confer genetic susceptibility to GD; (ii) CTLA-4 A49G polymorphism is not associated with the development of GO; (iii) different non-genetic factors may contribute to GO in different populations. 12534352 2003
dbSNP: rs3087243
rs3087243
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0018213
Disease:
Graves Disease
0.060 GeneticVariation BEFREE *642AT(8_33)(AT<sub>16-21</sub>)/CT60(rs3087243)G/Jo31(rs11571302)G/ICOSc.1554+4GT(8_15)(m) and TCA(AT<sub><16</sub>)GT(m) haplotypes increased risk of Graves' disease, especially in males, as well as overall Graves' orbitopathy development with severe outcome. 27638540 2017
dbSNP: rs4553808
rs4553808
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C1961102
Disease:
Precursor Cell Lymphoblastic Leukemia Lymphoma
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: 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: C1961102
Disease:
Precursor Cell Lymphoblastic Leukemia Lymphoma
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: C0349639
Disease:
Juvenile Myelomonocytic 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: rs370443546
rs370443546
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.020 GeneticVariation BEFREE M55V variant of SUMO4 was significantly associated with type 1 diabetes in Asians, but genetic heterogeneity between Asian and Caucasian populations was suggested. 17130532 2006
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0178468
Disease:
Autoimmune thyroid disease
0.030 GeneticVariation BEFREE 49A/G and CT60 polymorphisms of the cytotoxic T-lymphocyte-associated antigen 4 gene associated with autoimmune thyroid disease. 19559744 2009
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0006826
Disease:
Malignant Neoplasms
0.070 GeneticVariation BEFREE rs231775, rs4553808 and rs5742909 may be used as predictive genetic biomarkers for cancer predisposition. 29794444 2018
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C1306459
Disease:
Primary malignant neoplasm
0.050 GeneticVariation BEFREE rs231775, rs4553808 and rs5742909 may be used as predictive genetic biomarkers for cancer predisposition. 29794444 2018
dbSNP: rs16840252
rs16840252
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0013884
Disease:
Filarial Elephantiases
0.010 GeneticVariation BEFREE A case-control study was performed to establish a potential association of 5 CTLA4 gene promoter single nucleotide polymorphisms (SNPs; rs733618, rs11571316, rs5742909, rs231775, and rs16840252) with the occurrence of LF in an East Malaysian population (320 LF-infected individuals and 150 healthy controls). 21513760 2011
dbSNP: rs11571316
rs11571316
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0011854
Disease:
Diabetes Mellitus, Insulin-Dependent
0.700 GeneticVariation GWASDB A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. 21980299 2011
dbSNP: rs5742909
rs5742909
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0003873
Disease:
Rheumatoid Arthritis
0.030 GeneticVariation BEFREE A minor allele of CTLA-4 rs5742909 polymorphism was associated with RA and the activity but not the severity of the disease. 27808571 2017
dbSNP: rs3087243
rs3087243
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0026896
Disease:
Myasthenia Gravis
0.020 GeneticVariation BEFREE A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. Several recent reports have indicated that single nucleotide polymorphisms (SNPs) of CTLA-4, including rs733618, rs4553808, rs5742909, rs231775, and rs3087243 were associated with the risks of MG; however, the results were not consistent. 30009380 2018
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0243026
Disease:
Sepsis
0.020 GeneticVariation BEFREE A recent study by our working group revealed that the rs231775 single nucleotide polymorphism (SNP) in the CTLA-4 gene was associated with the survival of patients with sepsis and served as an independent prognostic variable. 30634576 2019
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0036690
Disease:
Septicemia
0.020 GeneticVariation BEFREE A recent study by our working group revealed that the rs231775 single nucleotide polymorphism (SNP) in the CTLA-4 gene was associated with the survival of patients with sepsis and served as an independent prognostic variable. 30634576 2019
dbSNP: rs231775
rs231775
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0860207
Disease:
Drug-Induced Liver Disease
0.010 GeneticVariation BEFREE A significant association was found between the rs231775 genotype and an early onset of DILI in the recipients. 23300559 2012
dbSNP: rs3087243
rs3087243
Entrez Id: 1493
Gene Symbol: CTLA4
CTLA4
CUI: C0018213
Disease:
Graves Disease
0.060 GeneticVariation BEFREE A significant association was found between the CTLA-4 CT60 polymorphism (rs3087243) and GD, with regard to comparisons between allele and genotype frequencies (all p < 0.001). 24697361 2014