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 |
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 |
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 |
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 |
rs151344629
|
0.851 |
0.200 |
1 |
247424492 |
missense variant |
C/T
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
7 |
2002 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
rs1395271150
|
1.000 |
0.080 |
1 |
247423230 |
missense variant |
G/C;T
|
snv
|
4.0E-06
|
|
Amyotrophic Lateral Sclerosis
|
Nutritional and Metabolic Diseases; Nervous System Diseases
|
0.040 |
1.000 |
4 |
2015 |
2019 |
rs35829419
|
0.689 |
0.560 |
1 |
247425556 |
missense variant |
C/A
|
snv
|
3.9E-02
|
3.3E-02
|
Rheumatoid Arthritis
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases
|
0.040 |
0.500 |
4 |
2010 |
2017 |
rs10754558
|
0.695 |
0.480 |
1 |
247448734 |
3 prime UTR variant |
G/C;T
|
snv
|
|
|
Ulcerative Colitis
|
Digestive System Diseases
|
0.030 |
1.000 |
3 |
2014 |
2018 |
rs12239046
|
|
|
1 |
247438293 |
intron variant |
T/C
|
snv
|
|
0.58
|
C-reactive protein measurement
|
|
0.800 |
1.000 |
3 |
2011 |
2019 |
rs35829419
|
0.689 |
0.560 |
1 |
247425556 |
missense variant |
C/A
|
snv
|
3.9E-02
|
3.3E-02
|
Crohn Disease
|
Digestive System Diseases
|
0.030 |
0.667 |
3 |
2009 |
2016 |
rs10157379
|
|
|
1 |
247442297 |
intron variant |
C/G;T
|
snv
|
|
|
Fibrinogen assay
|
|
0.800 |
1.000 |
2 |
2013 |
2016 |
rs10754558
|
0.695 |
0.480 |
1 |
247448734 |
3 prime UTR variant |
G/C;T
|
snv
|
|
|
HIV-1 infection
|
|
0.020 |
1.000 |
2 |
2010 |
2012 |