rs151344629
|
0.851 |
0.200 |
1 |
247424492 |
missense variant |
C/T
|
snv
|
|
|
Muckle-Wells Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.820 |
1.000 |
7 |
2001 |
2016 |
rs121908150
|
0.851 |
0.080 |
1 |
247424227 |
stop gained |
C/T
|
snv
|
|
|
Muckle-Wells Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.820 |
1.000 |
5 |
2001 |
2014 |
rs121908153
|
0.882 |
0.080 |
1 |
247424356 |
missense variant |
G/A;C
|
snv
|
|
|
Muckle-Wells Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.810 |
1.000 |
6 |
2001 |
2016 |
rs121908146
|
0.851 |
0.120 |
1 |
247424765 |
missense variant |
C/T
|
snv
|
|
|
Familial Cold Autoinflammatory Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
7 |
2001 |
2014 |
rs121908147
|
0.807 |
0.280 |
1 |
247424041 |
missense variant |
G/A;C
|
snv
|
8.3E-03;
4.0E-06
|
|
Familial Cold Autoinflammatory Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
7 |
2001 |
2014 |
rs121908148
|
1.000 |
0.080 |
1 |
247425329 |
missense variant |
A/G
|
snv
|
|
|
Familial Cold Autoinflammatory Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
7 |
2001 |
2014 |
rs121908150
|
0.851 |
0.080 |
1 |
247424227 |
stop gained |
C/T
|
snv
|
|
|
Familial Cold Autoinflammatory Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
7 |
2001 |
2014 |
rs121908152
|
1.000 |
0.080 |
1 |
247425167 |
missense variant |
T/C
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
7 |
2002 |
2014 |
rs121908153
|
0.882 |
0.080 |
1 |
247424356 |
missense variant |
G/A;C
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
7 |
2002 |
2014 |
rs121908154
|
1.000 |
0.080 |
1 |
247424375 |
missense variant |
T/C
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
7 |
2002 |
2014 |
rs121908149
|
1.000 |
0.080 |
1 |
247424504 |
missense variant |
C/T
|
snv
|
|
|
Muckle-Wells Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
5 |
2001 |
2014 |
rs121908151
|
1.000 |
0.080 |
1 |
247425154 |
missense variant |
G/A;C
|
snv
|
|
|
Muckle-Wells Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
5 |
2001 |
2014 |
rs12239046
|
|
|
1 |
247438293 |
intron variant |
T/C
|
snv
|
|
0.58
|
C-reactive protein measurement
|
|
0.800 |
1.000 |
3 |
2011 |
2019 |
rs10157379
|
|
|
1 |
247442297 |
intron variant |
C/G;T
|
snv
|
|
|
Fibrinogen assay
|
|
0.800 |
1.000 |
2 |
2013 |
2016 |
rs12239046
|
|
|
1 |
247438293 |
intron variant |
T/C
|
snv
|
|
0.58
|
Fibrinogen assay
|
|
0.800 |
1.000 |
2 |
2011 |
2017 |
rs1539019
|
0.882 |
0.240 |
1 |
247436999 |
intron variant |
A/C
|
snv
|
|
0.63
|
Fibrinogen assay
|
|
0.800 |
1.000 |
2 |
2009 |
2011 |
rs200154873
|
1.000 |
0.040 |
1 |
247418855 |
missense variant |
G/A;C
|
snv
|
3.2E-05
|
|
Keratitis Fugax Hereditaria
|
Eye Diseases
|
0.800 |
1.000 |
1 |
2018 |
2018 |
rs28937896
|
0.807 |
0.120 |
1 |
247424507 |
missense variant |
T/C
|
snv
|
|
|
Familial Cold Autoinflammatory Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
|
0 |
|
|
rs121908147
|
0.807 |
0.280 |
1 |
247424041 |
missense variant |
G/A;C
|
snv
|
8.3E-03;
4.0E-06
|
|
Muckle-Wells Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.720 |
1.000 |
6 |
2001 |
2014 |
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 |
rs180177433
|
1.000 |
0.080 |
1 |
247424756 |
missense variant |
C/A;T
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
2008 |
2008 |
rs180177438
|
1.000 |
0.080 |
1 |
247425158 |
missense variant |
A/G;T
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
2003 |
2003 |
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 |
rs145268073
|
1.000 |
0.080 |
1 |
247424912 |
missense variant |
G/A;C
|
snv
|
6.4E-04;
4.0E-06
|
|
Familial Cold Autoinflammatory Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2001 |
2014 |