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 |
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
|
|
|
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 |
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 |
|
|
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 |
|
|
rs180177451
|
1.000 |
0.080 |
1 |
247424442 |
missense variant |
C/A
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs180177468
|
0.925 |
0.080 |
1 |
247424369 |
missense variant |
G/T
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2006 |
2006 |
rs200758008
|
1.000 |
0.080 |
1 |
247425180 |
missense variant |
C/G
|
snv
|
|
|
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |