IRF2, interferon regulatory factor 2, 3660

N. diseases: 86; 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: rs17488073
rs17488073
1.000 0.080 4 184407819 intron variant C/G;T snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs3775578
rs3775578
1.000 4 184451980 intron variant T/C snv 0.16
Adverse effects, not elsewhere classified
0.700 1.000 1 2019 2019
dbSNP: rs890195
rs890195
0.925 0.040 4 184444386 intron variant C/A;T snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs890195
rs890195
0.925 0.040 4 184444386 intron variant C/A;T snv
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 1.000 1 2018 2018
dbSNP: rs13139310
rs13139310
0.925 0.120 4 184435757 intron variant G/A;C snv
CUI: C0019348
Disease: Herpes Simplex Infections
Herpes Simplex Infections
Infections; Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs13139310
rs13139310
0.925 0.120 4 184435757 intron variant G/A;C snv
CUI: C0013595
Disease: Eczema
Eczema
Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs13139310
rs13139310
0.925 0.120 4 184435757 intron variant G/A;C snv
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs13146124
rs13146124
1.000 0.080 4 184470254 intron variant G/A snv 0.20
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: rs3733475
rs3733475
1.000 0.080 4 184473956 intron variant G/T snv 0.32
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3756094
rs3756094
0.925 0.120 4 184429780 intron variant A/G snv 0.66
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3756094
rs3756094
0.925 0.120 4 184429780 intron variant A/G snv 0.66
CUI: C0013595
Disease: Eczema
Eczema
Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3775572
rs3775572
0.925 0.120 4 184448298 intron variant G/A snv 0.82
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3775572
rs3775572
0.925 0.120 4 184448298 intron variant G/A snv 0.82
CUI: C0013595
Disease: Eczema
Eczema
Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs793814
rs793814
0.925 0.120 4 184433820 intron variant T/A snv 0.70
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs793814
rs793814
0.925 0.120 4 184433820 intron variant T/A snv 0.70
CUI: C0013595
Disease: Eczema
Eczema
Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012