Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370443546
rs370443546
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: rs11571316
rs11571316
0.700 GeneticVariation GWASDB A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. 21980299

2011

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE Association between IL-18 gene promoter polymorphisms and CTLA-4 gene 49A/G polymorphism in Japanese patients with type 1 diabetes. 14709415

2004

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE Association of PTPN22 C1858T and CTLA-4 A49G polymorphisms with Type 1 Diabetes in Croatians. 19815302

2009

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE CTLA-4 49 A/G dimorphism and type 1 diabetes susceptibility: a French case-control study and segregation analysis. Evidence of a maternal effect. 12047362

2002

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE CTLA4 rs231775 and TNF-αrs1800629 were not associated with T1D onset in the Brazilian population. 26782543

2015

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE Evaluated was the role of the CTLA4 exon 1 A49G polymorphism and its role as a risk factor for T1D in our population. 15301861

2004

dbSNP: rs3087243
rs3087243
G 0.860 GeneticVariation GWASCAT Fine mapping of type 1 diabetes susceptibility loci and evidence for colocalization of causal variants with lymphoid gene enhancers. 25751624

2015

dbSNP: rs3087243
rs3087243
0.860 GeneticVariation BEFREE For the case-control studies, 1) the rs3087243 polymorphism was significantly associated with T1D [allele (fixed: odds ratio and 95% confidence interval (CI) = 1.249 (1.194-1.307), P < 0.001; random: odds ratio and 95%CI = 1.601 (1.103-2.325), P = 0.013)] [genotype (GG versus GA+AA: odds ratio and 95%CI = 1.249 (1.164-1.341), P < 0.001)], 2) there was no evidence to show that this association was accounted for in any study, and 3) there was no evidence for publication bias. 24390983

2013

dbSNP: rs5742909
rs5742909
0.010 GeneticVariation BEFREE Further subgroup analyses revealed that rs231775 polymorphism was significantly associated with susceptibility to T1DM in Caucasians and South Asians, and rs5742909 polymorphism was significantly associated with susceptibility to T1DM in South Asians. 30988065

2019

dbSNP: rs3087243
rs3087243
0.860 GeneticVariation BEFREE Genetic polymorphisms (HLA haplotypes; rs231806, rs231775, and rs3087243 in CTLA4; rs763361 in CD226; and rs706778 in CD25) and T1D-associated autoantibodies were analyzed. 25980680

2015

dbSNP: rs3087243
rs3087243
A 0.860 GeneticVariation GWASCAT Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. 21829393

2011

dbSNP: rs3087243
rs3087243
0.860 GeneticVariation GWASCAT Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480

2009

dbSNP: rs3087243
rs3087243
0.860 GeneticVariation GWASDB Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. 19430480

2009

dbSNP: rs3087243
rs3087243
0.860 GeneticVariation BEFREE Here, we analysed the effect of T1D-associated major HLA class II haplotypes and seven single nucleotide polymorphisms in six non-HLA genes [INS (rs689), PTPN22 (rs2476601), IL2RA (rs12722495 and rs2104286), PTPN2 (rs45450798), CTLA4 (rs3087243) and ERBB3 (rs2292239)] on peripheral blood Treg frequencies. 31808541

2019

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE In a combined analysis, the summary per-allele odds ratio (OR) for T1D of the G49A and C60T polymorphism was 1.42 [95% confidence interval (CI): 1.31-1.53, P<10(-5)] and 1.23 (95% CI: 1.18-1.29, P<10(-5)), respectively. 24465825

2014

dbSNP: rs3087243
rs3087243
0.860 GeneticVariation BEFREE In the case-only statistical interaction analysis between rs3772534 and rs3087243, there was also no support for an effect (1994 T1D affected offspring, and 3215 cases, P=0.92). 17209142

2007

dbSNP: rs3087243
rs3087243
A 0.860 GeneticVariation GWASCAT Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792

2008

dbSNP: rs3087243
rs3087243
A 0.860 GeneticVariation GWASDB Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. 18978792

2008

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE Moreover, rs231775 polymorphism was also found to be significantly associated with susceptibility to type 2 diabetes mellitus (T2DM) in East Asians and South Asians.<b>Conclusions:</b> Our findings indicated that rs231775 and rs5742909 polymorphisms may serve as genetic biomarkers of T1DM, and rs231775 polymorphism may also serve as a genetic biomarker of T2DM. 30988065

2019

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE Our data indicate that CTLA-4 exon 1 position 49 A/G dimorphism was significantly associated with predisposition to IDDM in our Central Poland population, particularly in patients lacking the strongly predisposing DRB1 alleles. 9690057

1998

dbSNP: rs370443546
rs370443546
0.020 GeneticVariation BEFREE Studies on IDDM5 have led to the discovery of a novel polymorphism 163 A-->G (M55V) in SUMO4 gene, which was found to be associated with T1D patients with Asian origin. 17448564

2007

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE The 49A/G dimorphism in exon 1 and the (AT)n in the 3' untranslated region of the CTLA-4 gene were significantly associated with type 1 diabetes. 11685455

2001

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE The authors performed a meta-analysis of 33 studies examining the association of type 1 diabetes mellitus with polymorphisms in the cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) gene, including the A49G (29 comparisons), C(-318)T (three comparisons), and (AT)n microsatellite (six comparisons) polymorphisms. 15961581

2005

dbSNP: rs231775
rs231775
0.100 GeneticVariation BEFREE The CTLA-4 49 A/G polymorphism was detected by the PCR-restriction fragment-length polymorphism (RFLP) method in 97 type 1 diabetic subjects and 20 patients with Graves' disease, a cohort which included 4 patients who also had type 1 diabetes. 12610047

2003