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: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C3889136
Disease: Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 		0.050 1.000 5 2007 2019
dbSNP: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C4268691
Disease: Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
Tumor necrosis factor receptor associated periodic syndrome [TRAPS] 		0.030 1.000 3 2010 2019
dbSNP: rs104895218
rs104895218 		0.827 0.240 12 6334099 missense variant C/T snv
CUI: C3889136
Disease: Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 		0.020 1.000 2 2003 2007
dbSNP: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0015974
Disease: Periodic fever
Periodic fever 		0.020 1.000 2 2001 2011
dbSNP: rs104895219
rs104895219 		0.827 0.240 12 6333823 missense variant G/A;T snv
CUI: C4268691
Disease: Tumor necrosis factor receptor associated periodic syndrome [TRAPS]
Tumor necrosis factor receptor associated periodic syndrome [TRAPS] 		0.010 1.000 1 2004 2004
dbSNP: rs104895219
rs104895219 		0.827 0.240 12 6333823 missense variant G/A;T snv
CUI: C3889136
Disease: Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 		0.010 1.000 1 2004 2004
dbSNP: rs104895223
rs104895223 		0.882 0.240 12 6334108 missense variant C/A;G;T snv 4.0E-06
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		0.010 1.000 1 2000 2000
dbSNP: rs104895224
rs104895224 		0.882 0.080 12 6333808 missense variant C/G;T snv
CUI: C0015974
Disease: Periodic fever
Periodic fever 		0.010 1.000 1 2001 2001
dbSNP: rs104895228
rs104895228 		0.925 0.120 12 6333764 missense variant A/C;G;T snv
CUI: C3889136
Disease: Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs104895252
rs104895252 		0.925 0.120 12 6333844 splice donor variant C/G;T snv
CUI: C3889136
Disease: Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs104895271
rs104895271 		0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05
CUI: C3889136
Disease: Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 		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: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2284344
rs2284344 		12 6336163 intron variant G/C snv 0.49
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs2284344
rs2284344 		12 6336163 intron variant G/C snv 0.49
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs34751757
rs34751757 		0.882 0.160 12 6333790 missense variant G/A;T snv 1.0E-04
CUI: C3889136
Disease: Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome
Tumor Necrosis Factor Receptor 1-Associated Periodic Syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs4149577
rs4149577 		0.827 0.280 12 6338356 intron variant G/A;T snv
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs4149577
rs4149577 		0.827 0.280 12 6338356 intron variant G/A;T snv
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		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: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		0.010 1.000 1 2011 2011
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: rs4149617
rs4149617 		12 6343446 upstream gene variant G/A snv 1.7E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
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: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0031046
Disease: Pericarditis
Pericarditis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
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: C0007177
Disease: Cardiac Tamponade
Cardiac Tamponade 		Cardiovascular Diseases 0.010 1.000 1 2017 2017