IRF4, interferon regulatory factor 4, 3662

N. diseases: 203; N. variants: 10
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: rs872071
rs872071 		0.742 0.360 6 411064 3 prime UTR variant A/G;T snv
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.840 1.000 7 2008 2014
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0018498
Disease: Hair Color
Hair Color 		0.800 1.000 3 2008 2013
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0015396
Disease: Eye Color
Eye Color 		0.800 1.000 2 2010 2018
dbSNP: rs1050976
rs1050976 		0.851 0.280 6 408079 3 prime UTR variant C/T snv 0.37
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 1.000 1 2011 2011
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0038868
Disease: Progressive supranuclear palsy
Progressive supranuclear palsy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.710 1.000 3 2011 2019
dbSNP: rs872071
rs872071 		0.742 0.360 6 411064 3 prime UTR variant A/G;T snv
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 4 2008 2014
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0406208
Disease: Suntan
Suntan 		0.700 1.000 3 2013 2018
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		0.700 1.000 3 2013 2018
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 2 2016 2019
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 2 2016 2019
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 2 2016 2019
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0025209
Disease: Melanosis
Melanosis 		Skin and Connective Tissue Diseases 0.700 1.000 2 2010 2018
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0029489
Disease: Other alopecia
Other alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 2 2016 2017
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		0.700 1.000 2 2016 2017
dbSNP: rs9391997
rs9391997 		0.851 0.160 6 409119 3 prime UTR variant A/G snv 0.38
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 2 2019 2019
dbSNP: rs1050976
rs1050976 		0.851 0.280 6 408079 3 prime UTR variant C/T snv 0.37
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1050976
rs1050976 		0.851 0.280 6 408079 3 prime UTR variant C/T snv 0.37
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: rs1050976
rs1050976 		0.851 0.280 6 408079 3 prime UTR variant C/T snv 0.37
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
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: rs12203592
rs12203592 		0.649 0.320 6 396321 intron variant C/T snv 0.10
CUI: C0016689
Disease: Freckles
Freckles 		Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010