rs1044429462
|
1.000 |
0.080 |
14 |
24255378 |
missense variant |
T/C
|
snv
|
2.8E-05
|
3.5E-05
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2018 |
2018 |
rs1465243895
|
0.925 |
0.080 |
14 |
24261772 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
1998 |
1998 |
rs318240748
|
0.882 |
0.080 |
14 |
24260459 |
missense variant |
A/C
|
snv
|
|
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs35312232
|
0.925 |
0.080 |
14 |
24255457 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
1.1E-02
|
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs531650682
|
0.851 |
0.080 |
14 |
24261776 |
missense variant |
G/A;C
|
snv
|
5.6E-05
|
9.1E-05
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
< 0.001 |
1 |
2017 |
2017 |
rs757658720
|
0.882 |
0.080 |
14 |
24249451 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
< 0.001 |
1 |
2017 |
2017 |
rs778635368
|
0.925 |
0.080 |
14 |
24261773 |
missense variant |
C/T
|
snv
|
8.0E-06
|
7.0E-06
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2000 |
2000 |
rs886041250
|
0.925 |
0.080 |
14 |
24261824 |
stop gained |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
1997 |
1997 |
rs121918718
|
0.925 |
0.080 |
14 |
24261778 |
missense variant |
C/T
|
snv
|
3.2E-05
|
4.2E-05
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.020 |
1.000 |
2 |
2004 |
2009 |
rs121918731
|
0.925 |
0.080 |
14 |
24259769 |
missense variant |
G/A;C;T
|
snv
|
2.0E-05;
1.5E-04;
4.0E-06
|
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
5 |
2006 |
2016 |
rs587779765
|
1.000 |
0.080 |
14 |
24255388 |
missense variant |
T/G
|
snv
|
|
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs753798494
|
0.882 |
0.080 |
14 |
24259778 |
missense variant |
T/A
|
snv
|
4.0E-06
|
|
Congenital Nonbullous Ichthyosiform Erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|