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: 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: rs5029928
rs5029928 		1.000 6 137868805 intron variant C/T snv 0.20
CUI: C0544015
Disease: Fuchs' syndrome
Fuchs' syndrome 		0.010 < 0.001 1 2014 2014
dbSNP: rs661561
rs661561 		0.882 0.200 6 137876194 intron variant A/C snv 0.62 0.50
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.010 1.000 1 2014 2014
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: 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: 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: 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: rs582757
rs582757 		0.776 0.320 6 137876687 intron variant C/T snv 0.70
CUI: C1845052
Disease: AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic 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: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs5029924
rs5029924 		0.851 0.200 6 137866361 intron variant C/T snv 0.13
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		Digestive System Diseases 0.010 1.000 1 2014 2014
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: rs582757
rs582757 		0.776 0.320 6 137876687 intron variant C/T snv 0.70
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs582757
rs582757 		0.776 0.320 6 137876687 intron variant C/T snv 0.70
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs582757
rs582757 		0.776 0.320 6 137876687 intron variant C/T snv 0.70
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2230926
rs2230926 		0.662 0.440 6 137874929 missense variant T/C;G snv 4.0E-06; 5.4E-02
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		Digestive System Diseases; Infections 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: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 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: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2015 2015
dbSNP: rs583522
rs583522 		0.925 0.080 6 137868747 intron variant C/A;T snv
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015