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: rs104895219
rs104895219 		0.827 0.240 12 6333823 missense variant G/A;T snv
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.840 1.000 12 1999 2019
dbSNP: rs104895218
rs104895218 		0.827 0.240 12 6334099 missense variant C/T snv
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.850 1.000 9 1999 2014
dbSNP: rs104895221
rs104895221 		0.925 0.200 12 6333490 missense variant A/G snv
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 6 1999 2008
dbSNP: rs104895222
rs104895222 		1.000 0.120 12 6333489 missense variant C/T snv
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 6 1999 2010
dbSNP: rs104895228
rs104895228 		0.925 0.120 12 6333764 missense variant A/C;G;T snv
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 6 1999 2014
dbSNP: rs104895217
rs104895217 		1.000 0.120 12 6334109 missense variant A/G snv
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 5 1999 2004
dbSNP: rs104895220
rs104895220 		1.000 0.120 12 6333817 missense variant C/A;T snv
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 5 1999 2004
dbSNP: rs104895225
rs104895225 		1.000 0.120 12 6334100 missense variant A/C snv
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 5 1999 2004
dbSNP: rs104895254
rs104895254 		1.000 0.120 12 6334131 missense variant G/C snv
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 5 1999 2004
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: rs104895238
rs104895238 		1.000 0.120 12 6333845 stop lost A/G snv
CUI: C1275126
Disease: TNF receptor-associated periodic fever syndrome (TRAPS)
TNF receptor-associated periodic fever syndrome (TRAPS) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.020 1.000 2 2004 2010
dbSNP: rs1860545
rs1860545 		0.790 0.200 12 6337611 intron variant G/A snv 0.31
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 2 2013 2016
dbSNP: rs4149570
rs4149570 		0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 1.000 2 2017 2018
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: rs4149570
rs4149570 		0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.020 1.000 2 2014 2014
dbSNP: rs4149581
rs4149581 		1.000 0.080 12 6337819 intron variant T/A;C snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 2 2011 2012
dbSNP: rs104895218
rs104895218 		0.827 0.240 12 6334099 missense variant C/T snv
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs104895218
rs104895218 		0.827 0.240 12 6334099 missense variant C/T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs104895218
rs104895218 		0.827 0.240 12 6334099 missense variant C/T snv
CUI: C0221014
Disease: Reactive systemic amyloidosis
Reactive systemic amyloidosis 		Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2004 2004
dbSNP: rs104895219
rs104895219 		0.827 0.240 12 6333823 missense variant G/A;T snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs104895219
rs104895219 		0.827 0.240 12 6333823 missense variant G/A;T snv
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
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: rs104895221
rs104895221 		0.925 0.200 12 6333490 missense variant A/G snv
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
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