rs2004640, IRF5

N. diseases: 26
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Alveolitis, Fibrosing
CUI: C4721507
Disease: Alveolitis, Fibrosing
4 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2009 2009
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
428 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.020 1.000 2 2007 2015
Body Height
CUI: C0005890
Disease: Body Height
3972 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.700 1.000 1 2019 2019
CATARACT, ANTERIOR POLAR
CUI: C1855179
Disease: CATARACT, ANTERIOR POLAR
27 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2018 2018
Giant Cell Arteritis
CUI: C0039483
Disease: Giant Cell Arteritis
78 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1 2010 2010
Hamman-Rich syndrome
CUI: C0085786
Disease: Hamman-Rich syndrome
8 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2009 2009
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1 2013 2013
Idiopathic Pulmonary Fibrosis
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
63 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2009 2009
Juvenile arthritis
CUI: C3495559
Disease: Juvenile arthritis
128 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.020 1.000 2 2014 2018
Lupus Erythematosus
CUI: C0409974
Disease: Lupus Erythematosus
44 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1 2018 2018
Lupus Erythematosus, Discoid
CUI: C0024138
Disease: Lupus Erythematosus, Discoid
46 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1 2018 2018
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.100 0.889 18 2006 2019
Lupus Nephritis
CUI: C0024143
Disease: Lupus Nephritis
64 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1 2010 2010
Lupus Vulgaris
CUI: C0024131
Disease: Lupus Vulgaris
44 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1 2018 2018
Lymphohistiocytosis, Hemophagocytic
CUI: C0024291
Disease: Lymphohistiocytosis, Hemophagocytic
13 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2011 2011
Macrophage Activation Syndrome
CUI: C1096155
Disease: Macrophage Activation Syndrome
6 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2011 2011
Macular Edema, Cystoid
CUI: C0024440
Disease: Macular Edema, Cystoid
3 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2013 2013
Macular retinal edema
CUI: C0271051
Disease: Macular retinal edema
3 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2013 2013
Nephritis
CUI: C0027697
Disease: Nephritis
40 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.020 1.000 2 2015 2017
Polyarthritis
CUI: C0162323
Disease: Polyarthritis
9 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2012 2012
Primary Sjögren's syndrome
CUI: C0151449
Disease: Primary Sjögren's syndrome
42 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1.000 1 2007 2007
Pulmonary Fibrosis
CUI: C0034069
Disease: Pulmonary Fibrosis
25 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.020 1.000 2 2009 2017
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
2387 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.790 1.000 9 2007 2014
Sarcoidosis
CUI: C0036202
Disease: Sarcoidosis
787 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.010 1 2013 2013
SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 10 (finding)
2 0.662 0.520 7 128938247 splice donor variant T/G snv 0.52 0.700 0