rs58852768
|
0.882 |
0.080 |
17 |
40822120 |
missense variant |
G/A;C;T
|
snv
|
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.830 |
1.000 |
12 |
1992 |
2015 |
rs58901407
|
1.000 |
0.080 |
17 |
40822137 |
missense variant |
A/C;G
|
snv
|
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.820 |
1.000 |
11 |
1992 |
2011 |
rs58075662
|
0.925 |
0.120 |
17 |
40822119 |
missense variant |
C/A;G;T
|
snv
|
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.820 |
1.000 |
2 |
2000 |
2012 |
rs57784225
|
1.000 |
0.080 |
17 |
40822126 |
missense variant |
T/G
|
snv
|
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
9 |
1992 |
2011 |
rs58414354
|
1.000 |
0.080 |
17 |
40822108 |
missense variant |
A/C
|
snv
|
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
9 |
1992 |
2011 |
rs61434181
|
1.000 |
0.080 |
17 |
40819575 |
stop gained |
T/A;C
|
snv
|
4.0E-06
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
9 |
1992 |
2011 |
rs59075499
|
1.000 |
0.080 |
17 |
40819625 |
missense variant |
CG/TC
|
mnv
|
|
|
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
2 |
1997 |
1998 |
rs58026994
|
1.000 |
0.080 |
17 |
40819565 |
missense variant |
A/T
|
snv
|
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
|
0 |
|
|
rs60118264
|
1.000 |
0.080 |
17 |
40822104 |
missense variant |
A/G
|
snv
|
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
|
0 |
|
|
rs387906640
|
1.000 |
0.080 |
17 |
40819609 |
stop gained |
G/T
|
snv
|
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.710 |
1.000 |
1 |
2008 |
2008 |
rs267607383
|
1.000 |
0.080 |
17 |
40819544 |
missense variant |
T/C
|
snv
|
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
9 |
1992 |
2011 |
rs62651994
|
1.000 |
0.080 |
17 |
40819553 |
missense variant |
A/G
|
snv
|
|
|
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
1997 |
1998 |
rs111641876
|
|
|
17 |
40832451 |
intron variant |
A/G
|
snv
|
|
1.3E-02
|
White Blood Cell Count procedure
|
|
0.700 |
1.000 |
1 |
2019 |
2019 |
rs267607381
|
1.000 |
0.080 |
17 |
40820044 |
splice region variant |
C/T
|
snv
|
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs267607384
|
1.000 |
0.080 |
17 |
40818974 |
frameshift variant |
GC/-
|
delins
|
|
|
Congenital reticular ichthyosiform erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs58735429
|
1.000 |
0.080 |
17 |
40822107 |
missense variant |
T/G
|
snv
|
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs587776815
|
1.000 |
0.080 |
17 |
40819163 |
splice acceptor variant |
T/C;G
|
snv
|
|
|
Congenital reticular ichthyosiform erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs587776816
|
1.000 |
0.080 |
17 |
40819516 |
splice donor variant |
C/T
|
snv
|
|
|
Congenital reticular ichthyosiform erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs587776817
|
1.000 |
0.080 |
17 |
40819085 |
frameshift variant |
-/G
|
delins
|
|
|
Congenital reticular ichthyosiform erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs58852768
|
0.882 |
0.080 |
17 |
40822120 |
missense variant |
G/A;C;T
|
snv
|
|
|
Congenital reticular ichthyosiform erythroderma
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs58852768
|
0.882 |
0.080 |
17 |
40822120 |
missense variant |
G/A;C;T
|
snv
|
|
|
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs60035576
|
1.000 |
0.080 |
17 |
40819590 |
stop gained |
G/A
|
snv
|
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs267607377
|
1.000 |
0.080 |
17 |
40819608 |
stop gained |
GG/TT
|
mnv
|
|
|
Hyperkeratosis, Epidermolytic
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2008 |
2008 |
rs267607380
|
|
|
17 |
40819557 |
stop gained |
C/A;T
|
snv
|
4.0E-06
|
|
Dermatologic disorders
|
Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2009 |
2009 |
rs58075662
|
0.925 |
0.120 |
17 |
40822119 |
missense variant |
C/A;G;T
|
snv
|
|
|
Hyperkeratosis
|
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2011 |
2011 |