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: rs74315444
rs74315444
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28
A 0.800 CausalMutation CLINVAR
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: rs398122890
rs398122890
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28
GTGACAA 0.700 CausalMutation CLINVAR
dbSNP: rs587776822
rs587776822
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28
C 0.700 CausalMutation CLINVAR
dbSNP: rs587776823
rs587776823
Entrez Id: 757;3460
Gene Symbol: TMEM50B;IFNGR2
TMEM50B;IFNGR2
CUI: C4013947
Disease:
IMMUNODEFICIENCY 28
A 0.700 CausalMutation CLINVAR
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: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C1827849
Disease:
IgE-mediated allergic asthma
0.010 GeneticVariation BEFREE We investigated the association of IFNG (CA repeat polymorphism within the first intron), IRF1 (GT repeat polymorphism within the intron 7), IFNGR1 (Val 14 Met), and IFNGR2 (Gln 64 Arg) gene polymorphisms with atopic asthma in the Japanese child population. 11240951 2001
dbSNP: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0155877
Disease:
Allergic asthma
0.010 GeneticVariation BEFREE We investigated the association of IFNG (CA repeat polymorphism within the first intron), IRF1 (GT repeat polymorphism within the intron 7), IFNGR1 (Val 14 Met), and IFNGR2 (Gln 64 Arg) gene polymorphisms with atopic asthma in the Japanese child population. 11240951 2001
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: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0030567
Disease:
Parkinson Disease
0.010 GeneticVariation BEFREE Five single nucleotide polymorphisms (SNPs) in the genes coding for interferon-gamma (IFN-gamma; T874A in intron 1), interferon-gamma receptor 2 (IFN-gamma R2; Gln64Arg), interleukin-10 (IL-10; G1082A in the promoter region), platelet-activating factor acetylhydrolase (PAF-AH; Val379Ala), and intercellular adhesion molecule 1 (ICAM-1; Lys469Glu) were genotyped, using pyrosequencing, in 265 patients with PD and 308 controls. 15648059 2005
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: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE We can conclude that the IFNGR polymorphisms (Val14Met and Gln64Arg) are protective in SLE in Chinese patients. 17618444 2007
dbSNP: rs2284553
rs2284553
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0042749
Disease:
Viremia
0.010 GeneticVariation BEFREE Our initial family-based association analysis identified two SNPs (rs2284553 (intronic SNP) and rs9808753 (Q64R)) on the IFNγ receptor 2 (IFNGR2) gene that were robustly associated with viraemia after multitest correction (all p<0.02). 20980339 2011
dbSNP: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0079731
Disease:
B-Cell Lymphomas
0.010 GeneticVariation BEFREE A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034) and IL7R (rs1494555 P(forinteraction) = .016) for NHL overall; IL7R (rs1494555 P(forinteraction) = .016) and TNF (1799724 P(forinteraction) = .031) for B-cell lymphoma; and IL5 (rs2069812 P(forinteraction) = .034) for T-cell lymphoma. 20952689 2011
dbSNP: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia
0.010 GeneticVariation BEFREE After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for IFNGR2 (rs9808753 P(forinteraction) = .006), IL13 (rs20541 P(forinteraction) = .019), and IL7R (rs1494555 P(forinteraction) = .012) for marginal zone B-cell lymphoma; IL7R (rs1494555 P(forinteraction) = .017) for small lymphocytic lymphoma/chronic lymphocytic leukemia; and IL12A (rs568408 P(forinteraction) = .013) and TNF (1799724 P(forinteraction) = .04) for follicular lymphoma. 20952689 2011
dbSNP: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0024305
Disease:
Lymphoma, Non-Hodgkin
0.010 GeneticVariation BEFREE A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034) and IL7R (rs1494555 P(forinteraction) = .016) for NHL overall; IL7R (rs1494555 P(forinteraction) = .016) and TNF (1799724 P(forinteraction) = .031) for B-cell lymphoma; and IL5 (rs2069812 P(forinteraction) = .034) for T-cell lymphoma. 20952689 2011
dbSNP: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0024301
Disease:
Lymphoma, Follicular
0.010 GeneticVariation BEFREE After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for IFNGR2 (rs9808753 P(forinteraction) = .006), IL13 (rs20541 P(forinteraction) = .019), and IL7R (rs1494555 P(forinteraction) = .012) for marginal zone B-cell lymphoma; IL7R (rs1494555 P(forinteraction) = .017) for small lymphocytic lymphoma/chronic lymphocytic leukemia; and IL12A (rs568408 P(forinteraction) = .013) and TNF (1799724 P(forinteraction) = .04) for follicular lymphoma. 20952689 2011
dbSNP: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0242647
Disease:
Mucosa-Associated Lymphoid Tissue Lymphoma
0.010 GeneticVariation BEFREE After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for IFNGR2 (rs9808753 P(forinteraction) = .006), IL13 (rs20541 P(forinteraction) = .019), and IL7R (rs1494555 P(forinteraction) = .012) for marginal zone B-cell lymphoma; IL7R (rs1494555 P(forinteraction) = .017) for small lymphocytic lymphoma/chronic lymphocytic leukemia; and IL12A (rs568408 P(forinteraction) = .013) and TNF (1799724 P(forinteraction) = .04) for follicular lymphoma. 20952689 2011
dbSNP: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0855095
Disease:
Small Lymphocytic Lymphoma
0.010 GeneticVariation BEFREE After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for IFNGR2 (rs9808753 P(forinteraction) = .006), IL13 (rs20541 P(forinteraction) = .019), and IL7R (rs1494555 P(forinteraction) = .012) for marginal zone B-cell lymphoma; IL7R (rs1494555 P(forinteraction) = .017) for small lymphocytic lymphoma/chronic lymphocytic leukemia; and IL12A (rs568408 P(forinteraction) = .013) and TNF (1799724 P(forinteraction) = .04) for follicular lymphoma. 20952689 2011
dbSNP: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0042749
Disease:
Viremia
0.010 GeneticVariation BEFREE Our initial family-based association analysis identified two SNPs (rs2284553 (intronic SNP) and rs9808753 (Q64R)) on the IFNγ receptor 2 (IFNGR2) gene that were robustly associated with viraemia after multitest correction (all p<0.02). 20980339 2011
dbSNP: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C1367654
Disease:
Marginal Zone B-Cell Lymphoma
0.010 GeneticVariation BEFREE After stratification by common B-cell lymphoma subtypes, a significant interaction was observed for IFNGR2 (rs9808753 P(forinteraction) = .006), IL13 (rs20541 P(forinteraction) = .019), and IL7R (rs1494555 P(forinteraction) = .012) for marginal zone B-cell lymphoma; IL7R (rs1494555 P(forinteraction) = .017) for small lymphocytic lymphoma/chronic lymphocytic leukemia; and IL12A (rs568408 P(forinteraction) = .013) and TNF (1799724 P(forinteraction) = .04) for follicular lymphoma. 20952689 2011
dbSNP: rs9808753
rs9808753
Entrez Id: 3460
Gene Symbol: IFNGR2
IFNGR2
CUI: C0079772
Disease:
T-Cell Lymphoma
0.010 GeneticVariation BEFREE A significant interaction with BMI was only observed for IFNGR2 (rs9808753 P(forinteraction) = .034) and IL7R (rs1494555 P(forinteraction) = .016) for NHL overall; IL7R (rs1494555 P(forinteraction) = .016) and TNF (1799724 P(forinteraction) = .031) for B-cell lymphoma; and IL5 (rs2069812 P(forinteraction) = .034) for T-cell lymphoma. 20952689 2011