rs121908146
|
0.851 |
0.120 |
1 |
247424765 |
missense variant |
C/T
|
snv
|
|
|
Cryopyrin-Associated Periodic Syndromes
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
6 |
2001 |
2016 |
rs121908153
|
0.882 |
0.080 |
1 |
247424356 |
missense variant |
G/A;C
|
snv
|
|
|
Cryopyrin-Associated Periodic Syndromes
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
5 |
2002 |
2014 |
rs151344629
|
0.851 |
0.200 |
1 |
247424492 |
missense variant |
C/T
|
snv
|
|
|
Cryopyrin-Associated Periodic Syndromes
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
10 |
2002 |
2016 |
rs28937896
|
0.807 |
0.120 |
1 |
247424507 |
missense variant |
T/C
|
snv
|
|
|
Cryopyrin-Associated Periodic Syndromes
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
2003 |
2005 |
rs180177458
|
1.000 |
0.080 |
1 |
247425022 |
missense variant |
G/A
|
snv
|
|
|
Cryopyrin-Associated Periodic Syndromes
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |
rs121908147
|
0.807 |
0.280 |
1 |
247424041 |
missense variant |
G/A;C
|
snv
|
8.3E-03;
4.0E-06
|
|
Cryopyrin-Associated Periodic Syndromes
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.020 |
1.000 |
2 |
2007 |
2013 |
rs35829419
|
0.689 |
0.560 |
1 |
247425556 |
missense variant |
C/A
|
snv
|
3.9E-02
|
3.3E-02
|
Cryopyrin-Associated Periodic Syndromes
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.020 |
1.000 |
2 |
2013 |
2016 |
rs121908150
|
0.851 |
0.080 |
1 |
247424227 |
stop gained |
C/T
|
snv
|
|
|
Cryopyrin-Associated Periodic Syndromes
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs180177494
|
1.000 |
0.080 |
1 |
247424344 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Cryopyrin-Associated Periodic Syndromes
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2010 |
2010 |
rs763186819
|
1.000 |
0.080 |
1 |
247425349 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
Cryopyrin-Associated Periodic Syndromes
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |