Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		0.900 0.933 10 1999 2019
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.100 0.909 11 2007 2018
dbSNP: rs4149584
rs4149584
TNFRSF1A
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
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		0.030 1.000 3 2006 2013
dbSNP: rs4149584
rs4149584
TNFRSF1A
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: rs4149584
rs4149584
TNFRSF1A
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 		0.020 1.000 2 2008 2010
dbSNP: rs4149584
rs4149584
TNFRSF1A
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: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 0.500 2 2002 2007
dbSNP: rs4149584
rs4149584
TNFRSF1A
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 		0.010 1.000 1 2017 2017
dbSNP: rs4149584
rs4149584
TNFRSF1A
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 		0.010 1.000 1 2005 2005
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0031046
Disease: Pericarditis
Pericarditis 		0.010 1.000 1 2017 2017
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0001416
Disease: Adenitis
Adenitis 		0.010 1.000 1 2011 2011
dbSNP: rs4149584
rs4149584
TNFRSF1A
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
TNFRSF1A
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 		0.010 1.000 1 2011 2011
dbSNP: rs4149584
rs4149584
TNFRSF1A
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
TNFRSF1A
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
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0015967
Disease: Fever
Fever 		0.010 1.000 1 2011 2011
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 1.000 1 2005 2005
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0003862
Disease: Arthralgia
Arthralgia 		0.010 1.000 1 2007 2007
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0018681
Disease: Headache
Headache 		0.010 1.000 1 2014 2014
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		0.010 1.000 1 2010 2010
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0024205
Disease: Lymphadenitis
Lymphadenitis 		0.010 1.000 1 2011 2011
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.010 1.000 1 2004 2004
dbSNP: rs4149584
rs4149584
TNFRSF1A
0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0162323
Disease: Polyarthritis
Polyarthritis 		0.010 1.000 1 2007 2007