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
TNF receptor-associated periodic fever syndrome (TRAPS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.900 0.933 15 1999 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: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
Immune System Diseases; Nervous System Diseases 0.880 1.000 12 2009 2019
dbSNP: rs104895218
rs104895218
0.827 0.240 12 6334099 missense variant C/T snv
TNF receptor-associated periodic fever syndrome (TRAPS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.850 1.000 9 1999 2014
dbSNP: rs104895219
rs104895219
0.827 0.240 12 6333823 missense variant G/A;T snv
TNF receptor-associated periodic fever syndrome (TRAPS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.840 1.000 12 1999 2019
dbSNP: rs104895221
rs104895221
0.925 0.200 12 6333490 missense variant A/G snv
TNF receptor-associated periodic fever syndrome (TRAPS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 6 1999 2008
dbSNP: rs104895222
rs104895222
1.000 0.120 12 6333489 missense variant C/T snv
TNF receptor-associated periodic fever syndrome (TRAPS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 6 1999 2010
dbSNP: rs104895228
rs104895228
0.925 0.120 12 6333764 missense variant A/C;G;T snv
TNF receptor-associated periodic fever syndrome (TRAPS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.810 1.000 6 1999 2014
dbSNP: rs104895217
rs104895217
1.000 0.120 12 6334109 missense variant A/G snv
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
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
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
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: 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: rs4149637
rs4149637
0.851 0.320 12 6333835 missense variant G/A;C snv 5.7E-03
TNF receptor-associated periodic fever syndrome (TRAPS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.710 1.000 6 1999 2005
dbSNP: rs104895271
rs104895271
0.851 0.240 12 6334161 missense variant A/C;G snv 1.6E-04; 4.8E-05
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 6 2006 2014
dbSNP: rs104895254
rs104895254
1.000 0.120 12 6334131 missense variant G/C snv
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: 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: rs4149581
rs4149581
1.000 0.080 12 6337819 intron variant T/A;C snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 2 2011 2012
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: 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: rs1860545
rs1860545
0.790 0.200 12 6337611 intron variant G/A snv 0.31
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue 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: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
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: rs2284344
rs2284344
12 6336163 intron variant G/C snv 0.49
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 1 2016 2016