Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs6000782
rs6000782
0.020 GeneticVariation BEFREE Association of <i>CARD10</i> rs6000782 and <i>TNF</i> rs1799724 variants with paediatric-onset autoimmune hepatitis. 30581618

2019

dbSNP: rs3184504
rs3184504
0.020 GeneticVariation BEFREE Genome-wide association analyses in Caucasians have linked a missense mutation at rs3184504 in SH2B3 with AIH. 28703133

2017

dbSNP: rs3184504
rs3184504
0.020 GeneticVariation BEFREE We also associated AIH with variants of SH2B3 (rs3184504, 12q24; P = 7.7 × 10(-8)) and CARD10 (rs6000782, 22q13.1; P = 3.0 × 10(-6)). 24768677

2014

dbSNP: rs6000782
rs6000782
0.020 GeneticVariation BEFREE We also associated AIH with variants of SH2B3 (rs3184504, 12q24; P = 7.7 × 10(-8)) and CARD10 (rs6000782, 22q13.1; P = 3.0 × 10(-6)). 24768677

2014

dbSNP: rs1799724
rs1799724
LTA ; TNF
0.010 GeneticVariation BEFREE Association of <i>CARD10</i> rs6000782 and <i>TNF</i> rs1799724 variants with paediatric-onset autoimmune hepatitis. 30581618

2019

dbSNP: rs1800871
rs1800871
0.010 GeneticVariation BEFREE We performed a meta-analysis to assess the association between three IL10 promoter polymorphisms (rs1800896, rs1800871, and rs1800872) and the risk of autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing cholangitis. 29694797

2018

dbSNP: rs1800872
rs1800872
0.010 GeneticVariation BEFREE We performed a meta-analysis to assess the association between three IL10 promoter polymorphisms (rs1800896, rs1800871, and rs1800872) and the risk of autoimmune hepatitis, primary biliary cholangitis, and primary sclerosing cholangitis. 29694797

2018

dbSNP: rs2069762
rs2069762
IL2
0.010 GeneticVariation BEFREE G/T alleles of IL-2 at -330 (rs2069762) and A/T alleles on UTR +5644 position at IFN-γ and their subsequent haplotypes, did not show significant association with AIH. 29288086

2018

dbSNP: rs2069763
rs2069763
IL2
0.010 GeneticVariation BEFREE IL-2 T allele at position +166 (rs2069763) showed significant higher frequency in AIH group (36%), compared to the controls (21%) (OR=2.06; 95% CI, 1.24-3.43, P-value<0.01). 29288086

2018

dbSNP: rs7708392
rs7708392
0.010 GeneticVariation BEFREE The C allele of rs7708392 was associated with AIH, especially AIH without DRB1*04:05, an already established risk factor. 29559739

2018

dbSNP: rs9277534
rs9277534
0.010 GeneticVariation BEFREE Logistic regression analysis revealed that the HLA-DRB1*04:05 allele (P < 0.001, OR = 4.61) and rs9277534 (P = 0.004, OR = 1.67) were independently associated with AIH susceptibility. rs9277534G in the HLA-DP gene is an eQTL that affects gene expression and may contribute to AIH susceptibility. 30093645

2018

dbSNP: rs11065904
rs11065904
0.010 GeneticVariation BEFREE Although the functional rs3184504 was non-polymorphic in 952 subjects, the frequency of the minor rs11065904 T allele was significantly decreased in AIH patients compared with healthy controls (odds ratio (OR)=0.68; corrected P=0.025). 28703133

2017

dbSNP: rs2238154
rs2238154
0.010 GeneticVariation BEFREE Haplotype 2 (rs2238154 A, rs11065904 T and rs739496 G) was associated with resistance to AIH (OR 0.67, P=0.021) as well as to autoimmune pancreatitis (OR=0.70, P=0.035). 28703133

2017

dbSNP: rs2476601
rs2476601
0.010 GeneticVariation BEFREE We conclude that rs7574865 and rs7582694 in <i>STAT4</i> gene minor alleles, interaction between rs7582694 and rs2476601, and haplotype containing the rs7582694-C and rs7574865-T alleles are associated with increased type 1 AIH risk, but rs2476601 in <i>PTPN22</i> gene minor allele is associated with decreased type 1 AIH risk. 28977835

2017

dbSNP: rs4325730
rs4325730
0.010 GeneticVariation BEFREE The previous genome-wide association study on type 1 AIH in a European population has reported a risk G allele of a single nucleotide polymorphism (SNP), rs4325730, in this region. 27974812

2017

dbSNP: rs739496
rs739496
0.010 GeneticVariation BEFREE Haplotype 2 (rs2238154 A, rs11065904 T and rs739496 G) was associated with resistance to AIH (OR 0.67, P=0.021) as well as to autoimmune pancreatitis (OR=0.70, P=0.035). 28703133

2017

dbSNP: rs7574865
rs7574865
0.010 GeneticVariation BEFREE We conclude that rs7574865 and rs7582694 in <i>STAT4</i> gene minor alleles, interaction between rs7582694 and rs2476601, and haplotype containing the rs7582694-C and rs7574865-T alleles are associated with increased type 1 AIH risk, but rs2476601 in <i>PTPN22</i> gene minor allele is associated with decreased type 1 AIH risk. 28977835

2017

dbSNP: rs7582694
rs7582694
0.010 GeneticVariation BEFREE We conclude that rs7574865 and rs7582694 in <i>STAT4</i> gene minor alleles, interaction between rs7582694 and rs2476601, and haplotype containing the rs7582694-C and rs7574865-T alleles are associated with increased type 1 AIH risk, but rs2476601 in <i>PTPN22</i> gene minor allele is associated with decreased type 1 AIH risk. 28977835

2017

dbSNP: rs2488458
rs2488458
0.010 GeneticVariation BEFREE Although the functional rs3996649 and rs2476601 were non-polymorphic in all subject groups, the frequencies of the minor alleles at rs1217412, rs1217388, rs1217407, and rs2488458 were significantly decreased in AIH patients as compared with controls (all Pc < 0.05). 27406031

2016

dbSNP: rs755622
rs755622
0.010 GeneticVariation BEFREE A MIF-173 GC single nucleotide polymorphism in the MIF promoter (rs755622) is clinically associated with steroid resistance in several inflammatory disorders but has not been evaluated in AIH. 27696094

2016

dbSNP: rs231775
rs231775
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: rs2187668
rs2187668
0.010 GeneticVariation BEFREE We associated AIH with a variant in the major histocompatibility complex region at rs2187668 (P = 1.5 × 10(-78)). 24768677

2014

dbSNP: rs5844572
rs5844572
0.010 GeneticVariation BEFREE Two MIF promoter polymorphisms, a functional -794 CATT5-8 microsatellite repeat (rs5844572) and a -173 G/C single-nucleotide polymorphism (rs755622), were analyzed in DNA samples from over 500 patients with AIH, PBC, and controls. 23913513

2014

dbSNP: rs121434254
rs121434254
0.010 GeneticVariation BEFREE Heterozygous mutations of AIRE were identified in 3 patients: a patient with PBC and a patient with AIH type 1 carried a R257X mutation, and a patient with AIH type 2, diabetes mellitus type 1 (IDDM), thyroid disease, and atrophic gastritis carried a G305S mutation in the first PHD ring finger domain of the AIRE protein. 11343230

2001