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: rs104895232
rs104895232 		1.000 0.120 12 6333818 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 0.700 0
dbSNP: rs104895276
rs104895276 		1.000 0.120 12 6333478 missense variant G/A;C snv 7.0E-06
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 0
dbSNP: rs1555108112
rs1555108112 		1.000 0.120 12 6333754 missense variant 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 0.700 0
dbSNP: rs886039866
rs886039866 		1.000 0.200 12 6333376 missense variant G/A snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.700 0
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: 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: rs104895223
rs104895223 		0.882 0.240 12 6334108 missense variant C/A;G;T snv 4.0E-06
CUI: C0035021
Disease: Relapsing Fever
Relapsing Fever 		Infections 0.010 1.000 1 2000 2000
dbSNP: rs104895223
rs104895223 		0.882 0.240 12 6334108 missense variant C/A;G;T snv 4.0E-06
CUI: C0027121
Disease: Myositis
Myositis 		Musculoskeletal Diseases; Nervous System Diseases 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: rs104895224
rs104895224 		0.882 0.080 12 6333808 missense variant C/G;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 2001 2001
dbSNP: rs104895224
rs104895224 		0.882 0.080 12 6333808 missense variant C/G;T snv
CUI: C3536715
Disease: AA amyloidosis
AA amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2001 2001
dbSNP: rs4149637
rs4149637 		0.851 0.320 12 6333835 missense variant G/A;C snv 5.7E-03
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs4149637
rs4149637 		0.851 0.320 12 6333835 missense variant G/A;C snv 5.7E-03
CUI: C0398691
Disease: Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Nervous System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002
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: rs104895223
rs104895223 		0.882 0.240 12 6334108 missense variant C/A;G;T snv 4.0E-06
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: rs34751757
rs34751757 		0.882 0.160 12 6333790 missense variant G/A;T snv 1.0E-04
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2004 2004
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: 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: 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: rs104895257
rs104895257 		1.000 0.080 12 6333441 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2004 2004