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: rs9926664
rs9926664 		16 85905149 intron variant A/G snv 0.19
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs1044873
rs1044873 		0.925 0.120 16 85922065 3 prime UTR variant C/T snv 0.40
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.810 1.000 2 2013 2014
dbSNP: rs391525
rs391525 		0.882 0.200 16 85910833 intron variant A/G;T snv 0.35
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2011 2012
dbSNP: rs2292982
rs2292982 		1.000 0.120 16 85911217 intron variant T/C;G snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs10514610
rs10514610 		1.000 0.040 16 85908569 intron variant G/A;C snv 0.12
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs925994
rs925994 		0.925 0.080 16 85912411 intron variant C/A snv 6.7E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs305082
rs305082 		16 85903372 non coding transcript exon variant T/C snv 0.28
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs391525
rs391525 		0.882 0.200 16 85910833 intron variant A/G;T snv 0.35
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		Male Urogenital Diseases; Mental Disorders 0.700 1.000 1 2012 2012
dbSNP: rs305082
rs305082 		16 85903372 non coding transcript exon variant T/C snv 0.28
CUI: C0857490
Disease: Granulocyte count
Granulocyte count 		0.700 1.000 1 2016 2016
dbSNP: rs397514711
rs397514711 		1.000 16 85909053 missense variant A/G snv
CUI: C3808589
Disease: IMMUNODEFICIENCY 32A
IMMUNODEFICIENCY 32A 		0.810 1.000 2 2011 2013
dbSNP: rs397514710
rs397514710 		1.000 16 85909137 missense variant A/G snv
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B 		0.810 1.000 3 2011 2014
dbSNP: rs774835569
rs774835569 		1.000 16 85918486 missense variant C/T snv 5.2E-05 7.7E-05
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B 		0.700 0
dbSNP: rs10514611
rs10514611 		0.925 0.080 16 85921636 3 prime UTR variant C/T snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1372132995
rs1372132995 		1.000 0.080 16 85914508 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs113899791
rs113899791 		16 85902784 5 prime UTR variant GGCTGCAGGT/-;GGCTGCAGGTGGCTGCAGGT;GGCTGCAGGTGGCTGCAGGTGGCTGCAGGT delins
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs2292982
rs2292982 		1.000 0.120 16 85911217 intron variant T/C;G snv
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs34993178
rs34993178 		16 85900909 intron variant -/T delins 0.15
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs424971
rs424971 		16 85912844 intron variant T/C snv 0.53
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2013 2013
dbSNP: rs56177354
rs56177354 		1.000 0.040 16 85899046 upstream gene variant C/T snv 4.0E-02
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs8064111
rs8064111 		16 85913869 intron variant C/A;T snv 9.6E-02
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs113899791
rs113899791 		16 85902784 5 prime UTR variant GGCTGCAGGT/-;GGCTGCAGGTGGCTGCAGGT;GGCTGCAGGTGGCTGCAGGTGGCTGCAGGT delins
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs2292982
rs2292982 		1.000 0.120 16 85911217 intron variant T/C;G snv
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs34993178
rs34993178 		16 85900909 intron variant -/T delins 0.15
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs424971
rs424971 		16 85912844 intron variant T/C snv 0.53
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2013 2013
dbSNP: rs56177354
rs56177354 		1.000 0.040 16 85899046 upstream gene variant C/T snv 4.0E-02
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016