rs121912670
|
0.925 |
0.120 |
2 |
232542992 |
missense variant |
C/T
|
snv
|
1.6E-05
|
1.4E-05
|
Multiple pterygium syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
1.000 |
2 |
2006 |
2006 |
rs267606726
|
0.925 |
0.120 |
2 |
232540681 |
missense variant |
T/G
|
snv
|
|
|
Multiple pterygium syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.800 |
|
0 |
|
|
rs267606725
|
1.000 |
0.120 |
2 |
232539760 |
stop gained |
C/T
|
snv
|
|
|
Multiple pterygium syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs747067203
|
1.000 |
0.120 |
2 |
232541424 |
frameshift variant |
CT/-
|
del
|
7.6E-05
|
1.0E-04
|
Multiple pterygium syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
1.000 |
1 |
2006 |
2006 |
rs121912671
|
1.000 |
0.120 |
2 |
232545570 |
stop gained |
C/T
|
snv
|
1.2E-05
|
|
Multiple pterygium syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs121912672
|
1.000 |
0.120 |
2 |
232540072 |
stop gained |
C/T
|
snv
|
5.6E-05;
4.0E-06
|
2.8E-05
|
Multiple pterygium syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs764266722
|
0.925 |
0.120 |
2 |
232540387 |
stop gained |
C/A;T
|
snv
|
8.0E-06;
2.0E-05
|
|
Multiple pterygium syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs765746795
|
1.000 |
0.120 |
2 |
232541451 |
missense variant |
C/G
|
snv
|
8.0E-06
|
7.0E-06
|
Multiple pterygium syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs767503038
|
0.925 |
0.120 |
2 |
232543030 |
frameshift variant |
CT/-
|
del
|
|
2.6E-04
|
Multiple pterygium syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs774279192
|
1.000 |
0.120 |
2 |
232541481 |
frameshift variant |
-/A
|
delins
|
3.5E-04
|
4.7E-04
|
Multiple pterygium syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|
rs863223313
|
1.000 |
0.120 |
2 |
232540660 |
inframe insertion |
-/AGGGTGCCG
|
delins
|
|
|
Multiple pterygium syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases
|
0.700 |
|
0 |
|
|