rs121912773
|
0.925 |
0.080 |
10 |
104053072 |
missense variant |
C/T
|
snv
|
|
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
5 |
1996 |
2002 |
rs121912771
|
0.882 |
0.080 |
10 |
104034193 |
missense variant |
C/T
|
snv
|
1.1E-04
|
1.5E-04
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
5 |
1996 |
2002 |
rs1478395810
|
1.000 |
0.080 |
10 |
104046775 |
splice acceptor variant |
T/C
|
snv
|
|
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1997 |
2009 |
rs775244527
|
1.000 |
0.080 |
10 |
104036490 |
splice donor variant |
A/-
|
del
|
|
2.5E-04
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
3 |
1999 |
2004 |
rs752317971
|
1.000 |
0.080 |
10 |
104043852 |
stop gained |
C/A;G
|
snv
|
8.0E-06
|
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
2 |
1997 |
2011 |
rs775196743
|
1.000 |
0.080 |
10 |
104080649 |
stop gained |
G/A
|
snv
|
8.0E-06
|
1.4E-05
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs1064793760
|
1.000 |
0.080 |
10 |
104034179 |
frameshift variant |
T/-
|
del
|
|
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121912769
|
0.925 |
0.080 |
10 |
104034711 |
stop gained |
G/A
|
snv
|
2.1E-05
|
1.4E-05
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121912770
|
1.000 |
0.080 |
10 |
104038409 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121912772
|
1.000 |
0.080 |
10 |
104041526 |
stop gained |
A/C
|
snv
|
|
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121912774
|
0.925 |
0.080 |
10 |
104072062 |
stop gained |
G/A
|
snv
|
4.0E-06
|
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs760094345
|
1.000 |
0.080 |
10 |
104076418 |
stop gained |
G/A;C
|
snv
|
8.0E-06;
4.0E-06
|
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs797045084
|
1.000 |
0.080 |
10 |
104043576 |
splice acceptor variant |
CCCTCTGAAAAC/-
|
delins
|
|
|
Adult junctional epidermolysis bullosa (disorder)
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|