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: rs864321625
rs864321625 		1.000 6 137876041 stop gained T/A snv
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.700 0
dbSNP: rs864321626
rs864321626 		1.000 6 137877081 stop gained C/T snv
CUI: C4225218
Disease: AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE
AUTOINFLAMMATORY SYNDROME, FAMILIAL, BEHCET-LIKE 		0.700 0
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: rs5029930
rs5029930 		1.000 0.040 6 137869547 intron variant A/C snv 0.20
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs610604
rs610604 		0.827 0.240 6 137878280 intron variant G/T snv 0.58
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2007 2007
dbSNP: rs582757
rs582757 		0.776 0.320 6 137876687 intron variant C/T snv 0.70
CUI: C0035439
Disease: Rheumatic Heart Disease
Rheumatic Heart Disease 		Infections; Cardiovascular Diseases 0.010 1.000 1 2009 2009
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: rs5029939
rs5029939 		0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C1800706
Disease: Idiopathic Pulmonary Fibrosis
Idiopathic Pulmonary Fibrosis 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5029939
rs5029939 		0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		Respiratory Tract Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5029939
rs5029939 		0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C3203102
Disease: Idiopathic pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5029939
rs5029939 		0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C4721507
Disease: Alveolitis, Fibrosing
Alveolitis, Fibrosing 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5029939
rs5029939 		0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0085786
Disease: Hamman-Rich syndrome
Hamman-Rich syndrome 		Pathological Conditions, Signs and Symptoms; Infections; Respiratory Tract 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: 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: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs5029937
rs5029937 		0.882 0.160 6 137874014 intron variant G/T snv 0.13
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs5029939
rs5029939 		0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs5029939
rs5029939 		0.701 0.440 6 137874586 intron variant C/G snv 0.13
CUI: C0149721
Disease: Left Ventricular Hypertrophy
Left Ventricular Hypertrophy 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs610604
rs610604 		0.827 0.240 6 137878280 intron variant G/T snv 0.58
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
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: rs5029949
rs5029949 		0.925 0.120 6 137876369 intron variant A/G snv 8.1E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs719149
rs719149 		1.000 0.120 6 137871608 intron variant G/A snv 0.19
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2012 2012