IFNGR2, interferon gamma receptor 2, 3460

N. diseases: 71; N. variants: 13
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0010346
Disease:
Crohn Disease
0.800 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0010346
Disease:
Crohn Disease
0.800 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs2834215
rs2834215
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0010346
Disease:
Crohn Disease
0.800 GeneticVariation GWASCAT A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. 22936669 2013
dbSNP: rs2834215
rs2834215
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0010346
Disease:
Crohn Disease
0.800 GeneticVariation GWASDB A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300. 22936669 2013
dbSNP: rs74315444
rs74315444
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28
0.800 GeneticVariation UNIPROT Partial interferon-gamma receptor signaling chain deficiency in a patient with bacille Calmette-Guérin and Mycobacterium abscessus infection. 10608793 2000
dbSNP: rs74315444
rs74315444
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28
0.800 GeneticVariation UNIPROT Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. 15924140 2005
dbSNP: rs74315444
rs74315444
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28
0.800 GeneticVariation UNIPROT Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation. 23963039 2013
dbSNP: rs74315444
rs74315444
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28
0.800 GeneticVariation UNIPROT Severe disseminated mycobacterial infection in a boy with a novel mutation leading to IFN-γR2 deficiency. 22902943 2012
dbSNP: rs1196094724
rs1196094724
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28
0.700 GeneticVariation UNIPROT
dbSNP: rs1243506079
rs1243506079
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28
0.700 GeneticVariation UNIPROT
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.700 GeneticVariation GWASCAT Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease. 28067908 2017
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0009324
Disease:
Ulcerative Colitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0033860
Disease:
Psoriasis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0008313
Disease:
Cholangitis, Sclerosing
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0038013
Disease:
Ankylosing spondylitis
0.700 GeneticVariation GWASCAT Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci. 26974007 2016
dbSNP: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0033860
Disease:
Psoriasis
0.700 GeneticVariation GWASCAT Whole-exome SNP array identifies 15 new susceptibility loci for psoriasis. 25854761 2015
dbSNP: rs1059293
rs1059293
Entrez Id: 757;3460
Gene Symbol: TMEM50B;IFNGR2
TMEM50B;IFNGR2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. 23996684 2014
dbSNP: rs1059293
rs1059293
Entrez Id: 757;3460
Gene Symbol: TMEM50B;IFNGR2
TMEM50B;IFNGR2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. 23996684 2014
dbSNP: rs1059293
rs1059293
Entrez Id: 757;3460
Gene Symbol: TMEM50B;IFNGR2
TMEM50B;IFNGR2
CUI: C4048329
Disease:
Immunosuppression
0.010 GeneticVariation BEFREE Multivariate logistic regression found SNPs in genes important for T helper type 1 (Th1) immunity (IFNGR2 rs1059293, IL15RA rs2296135, LTA rs1041981), Th2 immunity (IL4R rs1801275), and T regulatory cell-mediated immunosuppression (TGFB1 rs1800469) associated with breast cancer risk, mainly among AAs. 23996684 2014
dbSNP: rs1355972653
rs1355972653
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C1335059
Disease:
testicular nonseminoma
0.010 GeneticVariation BEFREE Analyses of haplotypes for LTA-TNF SNPs (LTA -91C>A, LTA 252A>G, TNF -863C>A, TNF -857C>T, TNF -308G>A, and -238G>A) were similarly suggestive of an association with TGCT (P = 0.06) and nonseminoma (P = 0.04), but not seminoma (P = 0.21). 17220333 2007
dbSNP: rs1355972653
rs1355972653
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0036631
Disease:
Seminoma
0.010 GeneticVariation BEFREE Analyses of haplotypes for LTA-TNF SNPs (LTA -91C>A, LTA 252A>G, TNF -863C>A, TNF -857C>T, TNF -308G>A, and -238G>A) were similarly suggestive of an association with TGCT (P = 0.06) and nonseminoma (P = 0.04), but not seminoma (P = 0.21). 17220333 2007
dbSNP: rs1355972653
rs1355972653
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C1336708
Disease:
Testicular Germ Cell Tumor
0.010 GeneticVariation BEFREE Analyses of haplotypes for LTA-TNF SNPs (LTA -91C>A, LTA 252A>G, TNF -863C>A, TNF -857C>T, TNF -308G>A, and -238G>A) were similarly suggestive of an association with TGCT (P = 0.06) and nonseminoma (P = 0.04), but not seminoma (P = 0.21). 17220333 2007
dbSNP: rs2012075
rs2012075
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0004096
Disease:
Asthma
0.010 GeneticVariation BEFREE Five SNPs, rs3733475A/C (IRF2), rs2069832A/G (IL6), rs2012075G/A (IFNGR2) and rs1400656G/A (STAT4) and rs1805011C/A (IL4RA) were found to be associated with asthma in family based as well as in case-control analyses (P=0.002, P=0.001, P=0.004, P=0.003 and P=0.001, respectively). 25994869 2015
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0019163
Disease:
Hepatitis B
0.010 GeneticVariation BEFREE Both rs3077 and rs2284553 polymorphisms were not associated with HBV viral load in terms of allelic frequency, genotypic frequency, dominant/recessive gene action. rs9808753 (G allele) was associated with a reduced chance of "undetectable HBV DNA" for patients below the age of 50 years in allelic frequency analysis (odds ratio 0.562; 95% confidence interval, 0.326-0.967; P value = 0.037). 23980639 2014
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0151517
Disease:
Complete atrioventricular block
0.010 GeneticVariation BEFREE There was no significant association between HLA-DP polymorphism (rs3077) and IFN-γ receptor-2 gene polymorphism (rs2284553) with viral activity in HBeAg-negative CHB patients. 23980639 2014