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: rs1487642206
rs1487642206 		1.000 0.120 12 6329385 missense variant C/A 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 0.010 1.000 1 2019 2019
dbSNP: rs746899020
rs746899020 		0.882 0.160 12 6329495 missense variant G/A;C snv 4.6E-06
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs746899020
rs746899020 		0.882 0.160 12 6329495 missense variant G/A;C snv 4.6E-06
CUI: C1879643
Disease: Adult Type Granulosa Cell Tumor
Adult Type Granulosa Cell Tumor 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs746899020
rs746899020 		0.882 0.160 12 6329495 missense variant G/A;C snv 4.6E-06
CUI: C0018206
Disease: granulosa cell tumor
granulosa cell tumor 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs550622769
rs550622769 		1.000 0.040 12 6329578 missense variant G/A;C snv 4.5E-06; 9.0E-06
CUI: C0006309
Disease: Brucellosis
Brucellosis 		Infections 0.010 1.000 1 2013 2013
dbSNP: rs778653907
rs778653907 		1.000 0.080 12 6329817 missense variant T/C snv 1.1E-04 7.0E-06
CUI: C0268390
Disease: Muckle-Wells Syndrome
Muckle-Wells Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs200292857
rs200292857 		0.925 0.160 12 6329974 synonymous variant G/A;C snv 4.8E-05
CUI: C0018206
Disease: granulosa cell tumor
granulosa cell tumor 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs200292857
rs200292857 		0.925 0.160 12 6329974 synonymous variant G/A;C snv 4.8E-05
CUI: C0220620
Disease: Gastrointestinal Carcinoid Tumor
Gastrointestinal Carcinoid Tumor 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2011 2011
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: rs1800693
rs1800693 		0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.880 1.000 12 2009 2019
dbSNP: rs1800693
rs1800693 		0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 3 2011 2015
dbSNP: rs1800693
rs1800693 		0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.020 1.000 2 2013 2014
dbSNP: rs1800693
rs1800693 		0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800693
rs1800693 		0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1800693
rs1800693 		0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0023892
Disease: Biliary cirrhosis
Biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1800693
rs1800693 		0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1800693
rs1800693 		0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs1800693
rs1800693 		0.776 0.360 12 6330843 non coding transcript exon variant T/C snv 0.36; 4.0E-06 0.38
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1424748509
rs1424748509 		12 6330859 missense variant C/T snv 4.0E-06
CUI: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2013 2013
dbSNP: rs104895285
rs104895285 		1.000 0.080 12 6330873 missense variant A/T snv
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2008 2008
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: rs1800692
rs1800692 		0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71
CUI: C1862389
Disease: ATRIAL SEPTAL DEFECT 1
ATRIAL SEPTAL DEFECT 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 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: C0015967
Disease: Fever
Fever 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2014 2014
dbSNP: rs1800692
rs1800692 		0.925 0.120 12 6333180 missense variant A/G snv 0.64 0.71
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 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: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013