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: rs4149584
rs4149584 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.020 1.000 2 2008 2010
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: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4149584
rs4149584 		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 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2005 2005
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: rs4149637
rs4149637 		0.851 0.320 12 6333835 missense variant G/A;C snv 5.7E-03
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2005 2005
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: rs4149570
rs4149570 		0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv
CUI: C0035220
Disease: Respiratory Distress Syndrome, Newborn
Respiratory Distress Syndrome, Newborn 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2015 2015
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: 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: rs1860545
rs1860545 		0.790 0.200 12 6337611 intron variant G/A snv 0.31
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1860545
rs1860545 		0.790 0.200 12 6337611 intron variant G/A snv 0.31
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1860545
rs1860545 		0.790 0.200 12 6337611 intron variant G/A snv 0.31
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4149570
rs4149570 		0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4149579
rs4149579 		1.000 0.040 12 6338191 intron variant C/T snv 5.0E-02
CUI: C0017168
Disease: Gastroesophageal reflux disease
Gastroesophageal reflux disease 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs767455
rs767455 		0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2008 2008
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: 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: 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: rs4149570
rs4149570 		0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 < 0.001 1 2018 2018
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: rs4149577
rs4149577 		0.827 0.280 12 6338356 intron variant G/A;T snv
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs767455
rs767455 		0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40
CUI: C0027873
Disease: Neuromyelitis Optica
Neuromyelitis Optica 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0001416
Disease: Adenitis
Adenitis 		Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011