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: 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: 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
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: 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: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
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: 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: rs767455
rs767455 		0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.020 1.000 2 2009 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: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2234649
rs2234649 		0.925 0.120 12 6342197 upstream gene variant T/G snv 4.8E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4149577
rs4149577 		0.827 0.280 12 6338356 intron variant G/A;T snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2011 2011
dbSNP: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C0003862
Disease: Arthralgia
Arthralgia 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2007 2007
dbSNP: rs767455
rs767455 		0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40
CUI: C0003872
Disease: Arthritis, Psoriatic
Arthritis, Psoriatic 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
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: 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: 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: 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: rs767455
rs767455 		0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C3267073
Disease: Autoinflammatory disease
Autoinflammatory disease 		0.010 1.000 1 2011 2011
dbSNP: rs4149584
rs4149584 		0.683 0.440 12 6333477 missense variant C/G;T snv 4.0E-06; 1.3E-02
CUI: C3890737
Disease: Autoinflammatory Syndrome
Autoinflammatory Syndrome 		Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2006 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