IRF7, interferon regulatory factor 7, 3665

N. diseases: 121; N. variants: 11
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: rs786205223
rs786205223 		1.000 11 613215 missense variant A/C snv
CUI: C4225358
Disease: IMMUNODEFICIENCY 39
IMMUNODEFICIENCY 39 		0.800 0
dbSNP: rs1131665
rs1131665 		0.851 0.160 11 613208 missense variant T/C snv 0.25 0.33
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.720 0.667 3 2011 2017
dbSNP: rs1061502
rs1061502 		0.882 0.160 11 614318 missense variant T/C snv 0.25 0.33
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: rs112006329
rs112006329 		1.000 0.080 11 617228 3 prime UTR variant G/A snv 0.33
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs375323253
rs375323253 		1.000 11 613094 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C4225358
Disease: IMMUNODEFICIENCY 39
IMMUNODEFICIENCY 39 		0.700 0
dbSNP: rs1008659575
rs1008659575 		1.000 11 612797 missense variant C/T snv 4.1E-06 7.0E-06
CUI: C0580190
Disease: 3-Phosphoglycerate dehydrogenase deficiency
3-Phosphoglycerate dehydrogenase deficiency 		0.010 1.000 1 2017 2017
dbSNP: rs1061501
rs1061501 		0.851 0.200 11 614864 synonymous variant C/T snv 0.83 0.85
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1061501
rs1061501 		0.851 0.200 11 614864 synonymous variant C/T snv 0.83 0.85
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1061501
rs1061501 		0.851 0.200 11 614864 synonymous variant C/T snv 0.83 0.85
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1061501
rs1061501 		0.851 0.200 11 614864 synonymous variant C/T snv 0.83 0.85
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1061502
rs1061502 		0.882 0.160 11 614318 missense variant T/C snv 0.25 0.33
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1061502
rs1061502 		0.882 0.160 11 614318 missense variant T/C snv 0.25 0.33
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2019 2019
dbSNP: rs10902179
rs10902179 		1.000 0.080 11 616031 upstream gene variant T/C snv 4.5E-02
CUI: C0748199
Disease: Recurrent pyelonephritis
Recurrent pyelonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11246213
rs11246213 		1.000 0.040 11 612967 intron variant A/G snv 0.25 0.33
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2020 2020
dbSNP: rs1131665
rs1131665 		0.851 0.160 11 613208 missense variant T/C snv 0.25 0.33
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2019 2019
dbSNP: rs1131665
rs1131665 		0.851 0.160 11 613208 missense variant T/C snv 0.25 0.33
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1131665
rs1131665 		0.851 0.160 11 613208 missense variant T/C snv 0.25 0.33
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1221395132
rs1221395132 		11 612721 missense variant C/T snv 7.0E-06
CUI: C0024115
Disease: Lung diseases
Lung diseases 		Respiratory Tract Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3758650
rs3758650 		0.882 0.240 11 616865 3 prime UTR variant G/A snv 5.8E-02 4.7E-02
CUI: C0017495
Disease: Gerstmann-Straussler-Scheinker Disease
Gerstmann-Straussler-Scheinker Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3758650
rs3758650 		0.882 0.240 11 616865 3 prime UTR variant G/A snv 5.8E-02 4.7E-02
CUI: C0029438
Disease: Massive Osteolyses
Massive Osteolyses 		Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3758650
rs3758650 		0.882 0.240 11 616865 3 prime UTR variant G/A snv 5.8E-02 4.7E-02
CUI: C0748199
Disease: Recurrent pyelonephritis
Recurrent pyelonephritis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016