IFNGR1, interferon gamma receptor 1, 3459

N. diseases: 153; N. variants: 30
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		G 0.800 CausalMutation CLINVAR
dbSNP: rs104893974
rs104893974
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		T 0.800 CausalMutation CLINVAR
dbSNP: rs121912715
rs121912715
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C1834752
Disease:
MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) 		G 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1311661488
rs1311661488
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.700 GeneticVariation UNIPROT
dbSNP: rs1554227230
rs1554227230
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs193922451
rs193922451
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C1112429
Disease:
Interferon gamma receptor deficiency 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs387906572
rs387906572
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		T 0.700 CausalMutation CLINVAR
dbSNP: rs387906593
rs387906593
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587776853
rs587776853
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587776854
rs587776854
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		TGTAA 0.700 CausalMutation CLINVAR
dbSNP: rs587776855
rs587776855
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587776856
rs587776856
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4014863
Disease:
IMMUNODEFICIENCY 27B 		G 0.700 CausalMutation CLINVAR
dbSNP: rs587776857
rs587776857
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587776859
rs587776859
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4014863
Disease:
IMMUNODEFICIENCY 27B 		T 0.700 CausalMutation CLINVAR
dbSNP: rs587776860
rs587776860
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4014863
Disease:
IMMUNODEFICIENCY 27B 		G 0.700 CausalMutation CLINVAR
dbSNP: rs752113778
rs752113778
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.700 GeneticVariation UNIPROT
dbSNP: rs945137618
rs945137618
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.700 GeneticVariation UNIPROT
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. 9389728 1997
dbSNP: rs104893974
rs104893974
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. 9389728 1997
dbSNP: rs121912715
rs121912715
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis. 9389728 1997
dbSNP: rs11575936
rs11575936
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.030 GeneticVariation BEFREE The genetic polymorphism found within the IFN-gamma receptor gene (Val14Met) may result in a shift to Th2, and this shift may increase susceptibility to SLE. 10079289 1999
dbSNP: rs587776856
rs587776856
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4288927
Disease:
IFN-gamma Receptor 1 Deficiency 		G 0.700 CausalMutation CLINVAR A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection. 10192386 1999
dbSNP: rs11575936
rs11575936
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.030 GeneticVariation BEFREE We previously described the amino acid polymorphism (Val14Met) within the IFN-gamma receptor 1 (IFN-gammaRI), and that the frequency of the Metl4 allele in SLE patients was significantly higher than that of the healthy control population [Tanaka et al.(1999) Immunogenetics 49, 266-271]. 10403400 1999
dbSNP: rs104893973
rs104893973
Entrez Id: 3459
Gene Symbol: IFNGR1
IFNGR1
CUI: C4011949
Disease:
IMMUNODEFICIENCY 27A 		0.800 GeneticVariation UNIPROT In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma. 10811850 2000