IRF8, interferon regulatory factor 8, 3394

N. diseases: 149; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1044873
rs1044873
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia 		C 0.810 GeneticVariation GWASCAT A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. 24292274 2014
dbSNP: rs1044873
rs1044873
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia 		C 0.810 GeneticVariation GWASDB A genome-wide association study identifies multiple susceptibility loci for chronic lymphocytic leukemia. 24292274 2014
dbSNP: rs397514710
rs397514710
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C4016741
Disease:
IMMUNODEFICIENCY 32B 		0.810 GeneticVariation UNIPROT Functional characterization of the human dendritic cell immunodeficiency associated with the IRF8(K108E) mutation. 25122610 2014
dbSNP: rs1044873
rs1044873
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia 		0.810 GeneticVariation BEFREE We provide evidence that rs1044873 in the IRF8 gene accounts for the initial GWAS signal for CLL risk. 23307532 2013
dbSNP: rs397514710
rs397514710
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C4016741
Disease:
IMMUNODEFICIENCY 32B 		0.810 GeneticVariation BEFREE Autosomal recessive IRF8 deficiency is caused by mutation K108E and associated with severe disease with complete depletion of monocytes and dendritic cells. 23468103 2013
dbSNP: rs397514711
rs397514711
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C3808589
Disease:
IMMUNODEFICIENCY 32A 		0.810 GeneticVariation BEFREE Mutation T80A causes autosomal dominant IRF8 deficiency and a milder form of the disease with selective loss of a subset of dendritic cells. 23468103 2013
dbSNP: rs397514710
rs397514710
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C4016741
Disease:
IMMUNODEFICIENCY 32B 		0.810 GeneticVariation UNIPROT IRF8 mutations and human dendritic-cell immunodeficiency. 21524210 2011
dbSNP: rs397514711
rs397514711
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C3808589
Disease:
IMMUNODEFICIENCY 32A 		0.810 GeneticVariation UNIPROT IRF8 mutations and human dendritic-cell immunodeficiency. 21524210 2011
dbSNP: rs397514710
rs397514710
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C4016741
Disease:
IMMUNODEFICIENCY 32B 		G 0.810 CausalMutation CLINVAR
dbSNP: rs397514711
rs397514711
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C3808589
Disease:
IMMUNODEFICIENCY 32A 		G 0.810 CausalMutation CLINVAR
dbSNP: rs391525
rs391525
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia 		0.800 GeneticVariation GWASDB Common variation at 6p21.31 (BAK1) influences the risk of chronic lymphocytic leukemia. 22700719 2012
dbSNP: rs391525
rs391525
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia 		0.800 GeneticVariation GWASCAT Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL. 21131588 2011
dbSNP: rs391525
rs391525
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0023434
Disease:
Chronic Lymphocytic Leukemia 		0.800 GeneticVariation GWASDB Genome-wide association study identifies a novel susceptibility locus at 6p21.3 among familial CLL. 21131588 2011
dbSNP: rs56177354
rs56177354
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0149745
Disease:
Oral Ulcer 		T 0.700 GeneticVariation GWASCAT Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci. 30837455 2019
dbSNP: rs8058904
rs8058904
Entrez Id: 3394;102466732
Gene Symbol: IRF8;MIR6774
IRF8;MIR6774
CUI: C0149745
Disease:
Oral Ulcer 		G 0.700 GeneticVariation GWASCAT Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci. 30837455 2019
dbSNP: rs113899791
rs113899791
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0750880
Disease:
Monocyte count result 		TGGTGGCTGCA 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs113899791
rs113899791
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0200637
Disease:
Monocyte count procedure 		TGGTGGCTGCA 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2292982
rs2292982
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0200637
Disease:
Monocyte count procedure 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2292982
rs2292982
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0750880
Disease:
Monocyte count result 		G 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs305082
rs305082
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0200633
Disease:
Neutrophil count (procedure) 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs305082
rs305082
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0200638
Disease:
Eosinophil count procedure 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs305082
rs305082
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0857490
Disease:
Granulocyte count 		C 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs34993178
rs34993178
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0750880
Disease:
Monocyte count result 		AT 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs34993178
rs34993178
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0200637
Disease:
Monocyte count procedure 		AT 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs56177354
rs56177354
Entrez Id: 3394
Gene Symbol: IRF8
IRF8
CUI: C0200637
Disease:
Monocyte count procedure 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016