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: 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: 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: 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: 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: 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: 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: 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: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2013 2013
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
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: 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
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: 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: 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