IRF5, interferon regulatory factor 5, 3663

N. diseases: 226; N. variants: 15
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: rs3807306
rs3807306 		0.776 0.320 7 128940626 intron variant G/A;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 2 2011 2012
dbSNP: rs3807307
rs3807307 		0.827 0.120 7 128939148 intron variant T/C snv 0.41
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs2004640
rs2004640 		0.662 0.520 7 128938247 splice donor variant T/G snv 0.52
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.790 1.000 9 2007 2014
dbSNP: rs2070197
rs2070197 		0.827 0.280 7 128948946 3 prime UTR variant T/C snv 9.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.730 0.750 4 2007 2015
dbSNP: rs35000415
rs35000415 		1.000 0.080 7 128945562 intron variant C/T snv 9.0E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 3 2015 2017
dbSNP: rs3757387
rs3757387 		0.851 0.280 7 128936032 upstream gene variant T/C snv 0.38
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 2 2015 2017
dbSNP: rs7808907
rs7808907 		1.000 0.080 7 128944030 intron variant T/C snv 0.49
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 2 2011 2014
dbSNP: rs10954214
rs10954214 		0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64
CUI: C0027121
Disease: Myositis
Myositis 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs10954214
rs10954214 		0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs10954214
rs10954214 		0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs10954214
rs10954214 		0.851 0.160 7 128949579 3 prime UTR variant C/T snv 0.64
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs113478424
rs113478424 		1.000 0.080 7 128935744 upstream gene variant TTAGCTATTGCTCC/-;TTAGCTATTGCTCCTTAGCTATTGCTCC delins
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2004640
rs2004640 		0.662 0.520 7 128938247 splice donor variant T/G snv 0.52
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs3757387
rs3757387 		0.851 0.280 7 128936032 upstream gene variant T/C snv 0.38
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.700 1.000 1 2013 2013
dbSNP: rs3757387
rs3757387 		0.851 0.280 7 128936032 upstream gene variant T/C snv 0.38
CUI: C0149745
Disease: Oral Ulcer
Oral Ulcer 		Stomatognathic Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3757387
rs3757387 		0.851 0.280 7 128936032 upstream gene variant T/C snv 0.38
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs3757387
rs3757387 		0.851 0.280 7 128936032 upstream gene variant T/C snv 0.38
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs3757387
rs3757387 		0.851 0.280 7 128936032 upstream gene variant T/C snv 0.38
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3778753
rs3778753 		0.925 0.200 7 128939988 intron variant A/G snv 0.41
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3778753
rs3778753 		0.925 0.200 7 128939988 intron variant A/G snv 0.41
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3778754
rs3778754 		1.000 0.080 7 128935498 upstream gene variant C/G snv 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3807306
rs3807306 		0.776 0.320 7 128940626 intron variant G/A;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3807306
rs3807306 		0.776 0.320 7 128940626 intron variant G/A;T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3807307
rs3807307 		0.827 0.120 7 128939148 intron variant T/C snv 0.41
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs3807307
rs3807307 		0.827 0.120 7 128939148 intron variant T/C snv 0.41
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019