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: 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: 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: 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: rs104895233
rs104895233 		1.000 0.120 12 6333418 missense variant 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 0.010 1.000 1 2010 2010
dbSNP: rs104895252
rs104895252 		0.925 0.120 12 6333844 splice donor 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 0.010 1.000 1 2019 2019
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: 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
dbSNP: rs104895271
rs104895271 		0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2013 2013
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: rs104895271
rs104895271 		0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs104895271
rs104895271 		0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
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: rs104895278
rs104895278 		1.000 0.080 12 6333469 missense variant C/T snv 2.3E-04 3.5E-05
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2015 2015