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: 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: 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: rs104895232
rs104895232
1.000 0.120 12 6333818 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 0.700 0
dbSNP: rs104895276
rs104895276
1.000 0.120 12 6333478 missense variant G/A;C snv 7.0E-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 0.700 0
dbSNP: rs1555108112
rs1555108112
1.000 0.120 12 6333754 missense variant 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 0.700 0
dbSNP: rs104895238
rs104895238
1.000 0.120 12 6333845 stop lost 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 0.020 1.000 2 2004 2010
dbSNP: rs34751757
rs34751757
0.882 0.160 12 6333790 missense variant G/A;T snv 1.0E-04
TNF receptor-associated periodic fever syndrome (TRAPS)
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.020 1.000 2 2004 2014
dbSNP: rs104895233
rs104895233
1.000 0.120 12 6333418 missense variant 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 0.010 1.000 1 2010 2010
dbSNP: rs104895252
rs104895252
0.925 0.120 12 6333844 splice donor variant 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 0.010 1.000 1 2019 2019
dbSNP: rs104895292
rs104895292
1.000 0.120 12 6333797 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 0.010 1.000 1 2015 2015
dbSNP: rs1487642206
rs1487642206
1.000 0.120 12 6329385 missense variant C/A snv 7.0E-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 0.010 1.000 1 2019 2019