rs869312718
|
1.000 |
0.160 |
20 |
6089031 |
missense variant |
A/G
|
snv
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.800 |
1.000 |
3 |
2003 |
2011 |
rs869312719
|
1.000 |
0.160 |
20 |
6084083 |
missense variant |
A/G
|
snv
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.800 |
1.000 |
3 |
2003 |
2011 |
rs121918293
|
1.000 |
0.160 |
20 |
6107570 |
stop gained |
G/A
|
snv
|
3.2E-05
|
5.6E-05
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.710 |
1.000 |
4 |
2003 |
2006 |
rs146180696
|
1.000 |
0.160 |
20 |
6097571 |
stop gained |
C/A
|
snv
|
6.4E-05
|
4.9E-05
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
5 |
2003 |
2015 |
rs142328166
|
1.000 |
0.160 |
20 |
6085276 |
stop gained |
G/A;T
|
snv
|
4.1E-04
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs779612399
|
1.000 |
0.160 |
20 |
6097592 |
missense variant |
T/C;G
|
snv
|
4.0E-06
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs866141540
|
1.000 |
0.160 |
20 |
6096996 |
frameshift variant |
GT/-
|
delins
|
|
7.0E-06
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs869312722
|
1.000 |
0.160 |
20 |
6122775 |
splice region variant |
T/A;C
|
snv
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs869312724
|
1.000 |
0.160 |
20 |
6110493 |
frameshift variant |
-/T
|
delins
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs869312725
|
1.000 |
0.160 |
20 |
6097523 |
splice donor variant |
C/T
|
snv
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs869312727
|
1.000 |
0.160 |
20 |
6094937 |
splice donor variant |
A/G
|
snv
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs869312730
|
1.000 |
0.160 |
20 |
6089053 |
stop gained |
A/C;T
|
snv
|
4.0E-06
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs869312731
|
1.000 |
0.160 |
20 |
6079448 |
stop gained |
C/T
|
snv
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
1.000 |
1 |
2004 |
2004 |
rs121918292
|
1.000 |
0.160 |
20 |
6107594 |
stop gained |
G/A
|
snv
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs121918294
|
1.000 |
0.160 |
20 |
6097619 |
stop gained |
G/A;T
|
snv
|
8.0E-06
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1568654138
|
1.000 |
0.160 |
20 |
6084043 |
frameshift variant |
-/T
|
ins
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs1568664492
|
1.000 |
0.160 |
20 |
6112545 |
frameshift variant |
T/-
|
delins
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs748240859
|
1.000 |
0.160 |
20 |
6110368 |
frameshift variant |
G/-;GG
|
delins
|
8.0E-06
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs869312720
|
1.000 |
0.160 |
20 |
6115895 |
inframe deletion |
CGA/-
|
delins
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs869312721
|
1.000 |
0.160 |
20 |
6077338 |
inframe deletion |
TGA/-
|
delins
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs869312723
|
1.000 |
0.160 |
20 |
6115823 |
frameshift variant |
A/-
|
del
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs869312726
|
1.000 |
0.160 |
20 |
6097034 |
splice acceptor variant |
C/T
|
snv
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs869312728
|
1.000 |
0.160 |
20 |
6094199 |
intron variant |
C/G;T
|
snv
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs869312729
|
1.000 |
0.160 |
20 |
6089068 |
frameshift variant |
T/-
|
delins
|
|
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.700 |
|
0 |
|
|
rs765716291
|
1.000 |
0.160 |
20 |
6115868 |
stop gained |
G/A
|
snv
|
3.2E-05
|
4.2E-05
|
Poikiloderma of Kindler
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Stomatognathic Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |