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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
|
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 |
|
|
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 |
|
|