IRF8, interferon regulatory factor 8, 3394

N. diseases: 149; N. variants: 20
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs8064111
rs8064111 		16 85913869 intron variant C/A;T snv 9.6E-02
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs7185022
rs7185022 		1.000 0.120 16 85919323 intron variant A/C snv 0.63
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2012 2012
dbSNP: rs305082
rs305082 		16 85903372 non coding transcript exon variant T/C snv 0.28
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs9926664
rs9926664 		16 85905149 intron variant A/G snv 0.19
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs56177354
rs56177354 		1.000 0.040 16 85899046 upstream gene variant C/T snv 4.0E-02
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs8058904
rs8058904 		1.000 0.040 16 85918076 intron variant A/G snv 0.13
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1044873
rs1044873 		0.925 0.120 16 85922065 3 prime UTR variant C/T snv 0.40
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs391525
rs391525 		0.882 0.200 16 85910833 intron variant A/G;T snv 0.35
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10514611
rs10514611 		0.925 0.080 16 85921636 3 prime UTR variant C/T snv 0.23
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2012 2012
dbSNP: rs11117415
rs11117415 		1.000 0.040 16 85917080 intron variant A/G snv 0.12
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2012 2012
dbSNP: rs925994
rs925994 		0.925 0.080 16 85912411 intron variant C/A snv 6.7E-02
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2012 2012