TNFAIP3, TNF alpha induced protein 3, 7128

N. diseases: 212; N. variants: 29
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: rs864321682
rs864321682 		1.000 6 137876030 frameshift variant T/- delins
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.700 0
dbSNP: rs864321683
rs864321683 		1.000 6 137879251 frameshift variant G/- delins
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.700 0
dbSNP: rs864321684
rs864321684 		1.000 6 137877188 stop gained C/G snv
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.700 0
dbSNP: rs864321685
rs864321685 		1.000 6 137876160 frameshift variant G/- delins
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.700 0
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.080 1.000 8 2010 2017
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0024299
Disease: Lymphoma
Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.040 1.000 4 2013 2019
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.040 1.000 4 2013 2019
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C1332979
Disease: Childhood Lymphoma
Childhood Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.040 1.000 4 2013 2019
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0151449
Disease: Primary Sjögren's syndrome
Primary Sjögren's syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.030 0.667 3 2013 2018
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2012
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C1527336
Disease: Sjogren's Syndrome
Sjogren's Syndrome 		Eye Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases; Stomatognathic Diseases 0.020 1.000 2 2011 2018
dbSNP: rs5029939
rs5029939 		0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.020 1.000 2 2010 2017
dbSNP: rs582757
rs582757 		0.776 0.320 6 137876687 intron variant C/T snv 0.70
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2009 2015
dbSNP: rs1423560438
rs1423560438 		0.882 0.080 6 137875748 stop gained C/T snv
CUI: C0343055
Disease: Generalized pustular psoriasis
Generalized pustular psoriasis 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1423560438
rs1423560438 		0.882 0.080 6 137875748 stop gained C/T snv
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs1423560438
rs1423560438 		0.882 0.080 6 137875748 stop gained C/T snv
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.010 1.000 1 2019 2019
dbSNP: rs143002189
rs143002189 		1.000 0.120 6 137881310 missense variant G/A snv 4.3E-04 4.4E-04
CUI: C0079744
Disease: Diffuse Large B-Cell Lymphoma
Diffuse Large B-Cell Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs143002189
rs143002189 		1.000 0.120 6 137881310 missense variant G/A snv 4.3E-04 4.4E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs143002189
rs143002189 		1.000 0.120 6 137881310 missense variant G/A snv 4.3E-04 4.4E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs146534657
rs146534657 		1.000 0.120 6 137874854 missense variant A/G snv 1.4E-02 6.0E-03
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0009326
Disease: Collagen Diseases
Collagen Diseases 		Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0019189
Disease: Hepatitis, Chronic
Hepatitis, Chronic 		Digestive System Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0398650
Disease: Immune thrombocytopenic purpura
Immune thrombocytopenic purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016