Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1861493
rs1861493
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome
0.010 GeneticVariation BEFREE The G allele of rs1861493 conferred a better response to IVIG treatment in KD patients. 27124053

2016

dbSNP: rs1861493
rs1861493
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL
0.010 GeneticVariation BEFREE AA allele frequencies of rs1861493 were also associated with a significantly higher risk of CAA in KD patients. 27124053

2016

dbSNP: rs1861493
rs1861493
CUI: C0004096
Disease: Asthma
Asthma
0.010 GeneticVariation BEFREE The aim of this study was to analyze the association of a (CA)n repeat in intron 1 and six single nucleotide polymorphisms (((rs2069705, T/C) (promoter)), ((rs1861494, A/G), (rs1861493, T/C), (rs2069718, C/T) (intron 3)), ((rs2069727, A/G) and (rs2069728, G/A) (3' untranslated region))) spanning the whole gene with asthma. 18385742

2008

dbSNP: rs1861493
rs1861493
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.010 GeneticVariation BEFREE Using multiple corrections, significant overall risk against PTB was observed at seven loci which included variants in IFNG at rs1861493 and rs1861494; IL1RA at rs4252019, IL4 variant rs2070874, IL12 variants rs3212220, rs2853694 and TNFB variant rs1041981. 22771610

2012

dbSNP: rs1861494
rs1861494
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.030 GeneticVariation BEFREE Three IFN-γ polymorphisms in intron 3, rs1861494 and rs2069718, and rs2430561 in interon 1 were strongly associated with TB. 24529854

2015

dbSNP: rs1861494
rs1861494
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.030 GeneticVariation BEFREE However, our findings indicate that the rs1861494 single nucleotide polymorphism (SNP) could be considered as a biomarker of tuberculosis resistance in the Argentinean population. 29361774

2018

dbSNP: rs1861494
rs1861494
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.030 GeneticVariation BEFREE IFNG rs1861494 polymorphism was associated with TB, particularly in the younger and male subgroups. 31310896

2019

dbSNP: rs1861494
rs1861494
CUI: C1609538
Disease: Latent Tuberculosis
Latent Tuberculosis
0.010 GeneticVariation BEFREE The <i>IFNG</i> rs1861494 was significantly associated with LTBI in recessive model, and the CC+CT genotype decreased risk of LTBI by 50% (<i>P</i> = 0.046, OR = 0.50, 95%CI: 0.25-0.99). 31687049

2019

dbSNP: rs1861494
rs1861494
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological
0.010 GeneticVariation BEFREE Our findings indicate that firstly the genetic variant of IFNγ (rs1861494) is involved with the regulation of amygdala reactivity to emotional stimuli and secondly, that this genetic variant moderates effects of early life stress on emotion processing. 26313134

2015

dbSNP: rs1861494
rs1861494
CUI: C0004096
Disease: Asthma
Asthma
0.010 GeneticVariation BEFREE In conclusion, we report for the first time association of rs1861494 A/G polymorphism with asthma, which may regulate the IFNgamma levels and, hence, modulate asthma pathogenesis. 18385742

2008

dbSNP: rs1861494
rs1861494
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE This study reports the first association of IFNG rs1861494 T allele with enhanced IFN-γ secretion and known IBD clinical parameters indicative of more aggressive disease and serological markers associated with treatment resistance to anti-tumor necrosis factor therapy in patients with IBD. 25171510

2014

dbSNP: rs1861494
rs1861494
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
0.010 GeneticVariation BEFREE Peripheral T cells of UC and Crohn's disease (CD) patients were genotyped for rs1861494 and analyzed for allele-specific and IFNG promoter methylation. 25171510

2014

dbSNP: rs1861494
rs1861494
CUI: C0155877
Disease: Allergic asthma
Allergic asthma
0.010 GeneticVariation BEFREE We report here the association of rs1861494 A/G with atopic asthma in a case-control cohort (n=189 and n=270 cases and controls, respectively) (P=0.0006), which was replicated (P=0.006) in a family study (n=137) as well. 18385742

2008

dbSNP: rs1861494
rs1861494
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
0.010 GeneticVariation BEFREE Peripheral T cells of UC and Crohn's disease (CD) patients were genotyped for rs1861494 and analyzed for allele-specific and IFNG promoter methylation. 25171510

2014

dbSNP: rs1861494
rs1861494
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
0.010 GeneticVariation BEFREE Peripheral T cells of UC and Crohn's disease (CD) patients were genotyped for rs1861494 and analyzed for allele-specific and IFNG promoter methylation. 25171510

2014

dbSNP: rs1861494
rs1861494
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
0.010 GeneticVariation BEFREE Eighty-five patients with vitiligo and 90 controls were investigated for IFN-γ gene expression by quantitative real-time PCR and genotyped for IFN-γ +874T/A (rs2430561) and IFN-γ +2109A/G (rs1861494) gene polymorphisms by sequence-specific primer (SSP)-PCR and PCR-restriction fragment length polymorphism (RFLP), respectively. 28273427

2017

dbSNP: rs1861494
rs1861494
CUI: C0017661
Disease: IGA Glomerulonephritis
IGA Glomerulonephritis
0.010 GeneticVariation BEFREE No association was found between IFN-γ rs1861494 and IgAN risk or clinical parameters. 28391282

2017

dbSNP: rs1861494
rs1861494
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.010 GeneticVariation BEFREE Using multiple corrections, significant overall risk against PTB was observed at seven loci which included variants in IFNG at rs1861493 and rs1861494; IL1RA at rs4252019, IL4 variant rs2070874, IL12 variants rs3212220, rs2853694 and TNFB variant rs1041981. 22771610

2012

dbSNP: rs1861494
rs1861494
CUI: C0042900
Disease: Vitiligo
Vitiligo
0.010 GeneticVariation BEFREE Eighty-five patients with vitiligo and 90 controls were investigated for IFN-γ gene expression by quantitative real-time PCR and genotyped for IFN-γ +874T/A (rs2430561) and IFN-γ +2109A/G (rs1861494) gene polymorphisms by sequence-specific primer (SSP)-PCR and PCR-restriction fragment length polymorphism (RFLP), respectively. 28273427

2017

dbSNP: rs1861494
rs1861494
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma
0.010 GeneticVariation BEFREE We report here the association of rs1861494 A/G with atopic asthma in a case-control cohort (n=189 and n=270 cases and controls, respectively) (P=0.0006), which was replicated (P=0.006) in a family study (n=137) as well. 18385742

2008

dbSNP: rs1861494
rs1861494
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome
0.010 GeneticVariation BEFREE IFNG rs1861494 polymorphism is associated with IBD disease severity and functional changes in both IFNG methylation and protein secretion. 25171510

2014

dbSNP: rs2069705
rs2069705
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 GeneticVariation BEFREE The association of IFN-γ rs2069705 with the risk of breast cancer was not significant among all participants, while the CT/TT genotypes were significantly related to an elevated risk of breast cancer [1.32 (1.03-1.70)] among the women with <1 fever per year and to a reduced risk of breast cancer [0.63 (0.40-0.99)] among women with ≥1 fever per year compared to the CC genotype. 22624006

2012

dbSNP: rs2069705
rs2069705
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.020 GeneticVariation BEFREE SLE susceptibility association was significant with rs2069705 in the promoter (adjusted OR 2.27, p=0.0024) and marginal with rs3181032 in the promoter (p=0.037), rs2430561 in intron 1 (p=0.022) and rs2069718 in intron 3 (p=0.026) in a recessive genetic model. 19919944

2010

dbSNP: rs2069705
rs2069705
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.020 GeneticVariation BEFREE IFN-γ rs2069705 was not directly associated with BC risk but interacted with EBNA-1 IgA on BC risk. 22095765

2012

dbSNP: rs2069705
rs2069705
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 GeneticVariation BEFREE IFN-γ rs2069705 was not directly associated with BC risk but interacted with EBNA-1 IgA on BC risk. 22095765

2012