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: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0003864
Disease: Arthritis
Arthritis 		Musculoskeletal Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 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: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		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: C0079745
Disease: Lymphoma, Large-Cell, Follicular
Lymphoma, Large-Cell, Follicular 		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: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 < 0.001 1 2015 2015
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: rs5029941
rs5029941 		1.000 0.080 6 137874923 missense variant C/T snv 1.2E-03 5.6E-03
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5029941
rs5029941 		1.000 0.080 6 137874923 missense variant C/T snv 1.2E-03 5.6E-03
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2010 2010
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: rs368859219
rs368859219 		1.000 0.040 6 137881228 missense variant G/A;T snv 7.4E-05; 8.2E-06
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2020 2020
dbSNP: rs610604
rs610604 		0.827 0.240 6 137878280 intron variant G/T snv 0.58
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.860 1.000 10 2009 2015
dbSNP: rs5029939
rs5029939 		0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.850 1.000 6 2008 2017
dbSNP: rs5029937
rs5029937 		0.882 0.160 6 137874014 intron variant G/T snv 0.13
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.740 1.000 5 2009 2017
dbSNP: rs3757173
rs3757173 		1.000 0.080 6 137869017 intron variant A/G snv 0.20
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.720 1.000 3 2012 2016
dbSNP: rs582757
rs582757 		0.776 0.320 6 137876687 intron variant C/T snv 0.70
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.800 1.000 3 2012 2016
dbSNP: rs5029937
rs5029937 		0.882 0.160 6 137874014 intron variant G/T snv 0.13
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.710 1.000 2 2009 2016
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: rs610604
rs610604 		0.827 0.240 6 137878280 intron variant G/T snv 0.58
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.710 1.000 2 2015 2015
dbSNP: rs643177
rs643177 		1.000 0.040 6 137874556 intron variant T/C snv 0.70
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 2 2015 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