rs1057518827
|
1.000 |
0.040 |
1 |
247425248 |
missense variant |
A/G
|
snv
|
|
|
CUI: |
C0015967 |
Disease: |
Fever
|
Fever
|
Pathological Conditions, Signs and Symptoms
|
0.700 |
|
0 |
|
|
rs1057518827
|
1.000 |
0.040 |
1 |
247425248 |
missense variant |
A/G
|
snv
|
|
|
Pericardial effusion
|
Cardiovascular Diseases
|
0.700 |
|
0 |
|
|
rs1057518827
|
1.000 |
0.040 |
1 |
247425248 |
missense variant |
A/G
|
snv
|
|
|
Pleural effusion disorder
|
Respiratory Tract Diseases
|
0.700 |
|
0 |
|
|
rs180177430
|
1.000 |
0.080 |
1 |
247424764 |
missense variant |
G/A;C
|
snv
|
|
|
Muckle-Wells Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177431
|
0.925 |
0.080 |
1 |
247424363 |
missense variant |
T/C
|
snv
|
|
|
Familial Cold Autoinflammatory Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177431
|
0.925 |
0.080 |
1 |
247424363 |
missense variant |
T/C
|
snv
|
|
|
Muckle-Wells Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177432
|
1.000 |
0.080 |
1 |
247424365 |
missense variant |
C/A;G
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177434
|
1.000 |
0.080 |
1 |
247424522 |
missense variant |
A/G
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177435
|
1.000 |
0.080 |
1 |
247425434 |
missense variant |
T/C
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177436
|
1.000 |
0.080 |
1 |
247424240 |
missense variant |
T/A;G
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177439
|
1.000 |
0.080 |
1 |
247425018 |
missense variant |
C/A;G;T
|
snv
|
8.0E-06
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177442
|
1.000 |
0.080 |
1 |
247424228 |
missense variant |
G/C;T
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177444
|
1.000 |
0.080 |
1 |
247424511 |
missense variant |
G/T
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177445
|
1.000 |
0.080 |
1 |
247424662 |
missense variant |
A/C
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177446
|
1.000 |
0.080 |
1 |
247425345 |
missense variant |
G/T
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177447
|
1.000 |
0.080 |
1 |
247424357 |
missense variant |
A/G
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177449
|
1.000 |
0.080 |
1 |
247423964 |
missense variant |
T/C
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177452
|
1.000 |
0.080 |
1 |
247436053 |
missense variant |
A/C;G
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs180177478
|
1.000 |
0.080 |
1 |
247425017 |
missense variant |
T/G
|
snv
|
|
|
Familial Cold Autoinflammatory Syndrome 1
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs28937896
|
0.807 |
0.120 |
1 |
247424507 |
missense variant |
T/C
|
snv
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION
|
|
0.700 |
|
0 |
|
|
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 |
|
|
rs28937896
|
0.807 |
0.120 |
1 |
247424507 |
missense variant |
T/C
|
snv
|
|
|
Muckle-Wells Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs28937896
|
0.807 |
0.120 |
1 |
247424507 |
missense variant |
T/C
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs28937896
|
0.807 |
0.120 |
1 |
247424507 |
missense variant |
T/C
|
snv
|
|
|
Keratitis Fugax Hereditaria
|
Eye Diseases
|
0.700 |
|
0 |
|
|
rs747885829
|
1.000 |
0.040 |
1 |
247423957 |
missense variant |
C/T
|
snv
|
2.0E-05
|
1.4E-05
|
Atherosclerosis
|
Cardiovascular Diseases
|
0.010 |
1.000 |
1 |
2001 |
2001 |