TNFRSF1A, TNF receptor superfamily member 1A, 7132

N. diseases: 487; N. variants: 48
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: rs1800693
rs1800693 		0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1800693
rs1800693 		0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4149577
rs4149577 		0.827 0.280 12 6338356 intron variant G/A;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4149578
rs4149578 		0.925 0.080 12 6338271 intron variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs767455
rs767455 		0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs550622769
rs550622769 		1.000 0.040 12 6329578 missense variant G/A;C snv 4.5E-06; 9.0E-06
CUI: C0006309
Disease: Brucellosis
Brucellosis 		Infections 0.010 1.000 1 2013 2013
dbSNP: rs758417636
rs758417636 		1.000 0.120 12 6330272 missense variant T/C snv 1.2E-05 7.0E-06
CUI: C0595989
Disease: Carcinoma of larynx
Carcinoma of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 1994 1994
dbSNP: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0007177
Disease: Cardiac Tamponade
Cardiac Tamponade 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1800693
rs1800693 		0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1860545
rs1860545 		0.790 0.200 12 6337611 intron variant G/A snv 0.31
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C2921627
Disease: Clinically isolated syndrome
Clinically isolated syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs4149573
rs4149573 		1.000 0.040 12 6340218 intron variant C/G snv 9.0E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs4149570
rs4149570 		0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.020 1.000 2 2014 2014
dbSNP: rs1860545
rs1860545 		0.790 0.200 12 6337611 intron variant G/A snv 0.31
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0011303
Disease: Demyelinating Diseases
Demyelinating Diseases 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1800692
rs1800692 		0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.010 1.000 1 2013 2013
dbSNP: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.020 1.000 2 2008 2010
dbSNP: rs104895271
rs104895271 		0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs1424748509
rs1424748509 		12 6330859 missense variant C/T snv 4.0E-06
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs1800692
rs1800692 		0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011
dbSNP: rs4149579
rs4149579 		1.000 0.040 12 6338191 intron variant C/T snv 5.0E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs200292857
rs200292857 		0.925 0.160 12 6329974 synonymous variant G/A;C snv 4.8E-05
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2011 2011