IRF3, interferon regulatory factor 3, 3661

N. diseases: 174; N. variants: 9
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: rs750526659
rs750526659 		19 49662076 missense variant C/G;T snv 4.0E-05
CUI: C4225294
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7
ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7 		0.800 1.000 1 2015 2015
dbSNP: rs1057519880
rs1057519880 		0.925 0.080 19 49665875 missense variant C/T snv 4.0E-06
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519880
rs1057519880 		0.925 0.080 19 49665875 missense variant C/T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2230667
rs2230667 		19 49662445 missense variant C/T snv 1.0E-04 1.4E-05
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2230667
rs2230667 		19 49662445 missense variant C/T snv 1.0E-04 1.4E-05
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2230667
rs2230667 		19 49662445 missense variant C/T snv 1.0E-04 1.4E-05
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2230667
rs2230667 		19 49662445 missense variant C/T snv 1.0E-04 1.4E-05
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2230667
rs2230667 		19 49662445 missense variant C/T snv 1.0E-04 1.4E-05
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2230667
rs2230667 		19 49662445 missense variant C/T snv 1.0E-04 1.4E-05
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2304206
rs2304206 		0.925 0.080 19 49665614 5 prime UTR variant G/A snv 0.37
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2304204
rs2304204 		0.882 0.160 19 49665763 5 prime UTR variant T/C snv 0.39
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2009 2014
dbSNP: rs1476330207
rs1476330207 		19 49660781 frameshift variant G/- delins 4.1E-06
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2304204
rs2304204 		0.882 0.160 19 49665763 5 prime UTR variant T/C snv 0.39
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2304204
rs2304204 		0.882 0.160 19 49665763 5 prime UTR variant T/C snv 0.39
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs2304205
rs2304205 		0.925 0.040 19 49665670 splice donor variant A/C;T snv 0.36
CUI: C0023465
Disease: Acute monocytic leukemia
Acute monocytic leukemia 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2304205
rs2304205 		0.925 0.040 19 49665670 splice donor variant A/C;T snv 0.36
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2304206
rs2304206 		0.925 0.080 19 49665614 5 prime UTR variant G/A snv 0.37
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2304207
rs2304207 		1.000 0.080 19 49664469 5 prime UTR variant C/G;T snv 0.14; 6.9E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs7251
rs7251 		0.925 0.080 19 49659652 missense variant C/A;G snv 0.39 0.44
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs7251
rs7251 		0.925 0.080 19 49659652 missense variant C/A;G snv 0.39 0.44
CUI: C0856825
Disease: Acute GVH disease
Acute GVH disease 		Immune System Diseases 0.010 1.000 1 2013 2013