rs1332784619
|
1.000 |
0.160 |
13 |
108210406 |
missense variant |
T/C
|
snv
|
|
7.0E-06
|
LIG4 Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs104894419
|
0.807 |
0.360 |
13 |
108208829 |
stop gained |
G/A
|
snv
|
9.9E-05
|
7.0E-05
|
LIG4 Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
8 |
2001 |
2016 |
rs780879476
|
0.925 |
0.160 |
13 |
108210656 |
frameshift variant |
A/-
|
delins
|
5.6E-05
|
5.6E-05
|
LIG4 Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
6 |
2001 |
2016 |
rs375554612
|
1.000 |
0.160 |
13 |
108209365 |
frameshift variant |
T/-
|
delins
|
|
3.7E-04
|
LIG4 Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
4 |
2001 |
2016 |
rs1566366148
|
1.000 |
0.160 |
13 |
108210469 |
frameshift variant |
CT/-
|
delins
|
|
|
LIG4 Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs886037777
|
1.000 |
0.160 |
13 |
108209957 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
LIG4 Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
1.000 |
1 |
2016 |
2016 |
rs1060499662
|
1.000 |
0.160 |
13 |
108208948 |
missense variant |
A/G
|
snv
|
|
|
LIG4 Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs587776663
|
1.000 |
0.160 |
13 |
108209969 |
inframe deletion |
GTT/-
|
delins
|
|
|
LIG4 Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs751070095
|
1.000 |
0.160 |
13 |
108210386 |
frameshift variant |
ATTTC/-
|
delins
|
|
|
LIG4 Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs772226399
|
1.000 |
0.160 |
13 |
108209994 |
frameshift variant |
CTTTT/-
|
delins
|
1.6E-04
|
2.6E-04
|
LIG4 Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
0.700 |
|
0 |
|
|
rs104894418
|
1.000 |
0.160 |
13 |
108209531 |
stop gained |
G/A;C
|
snv
|
8.0E-06
|
|
LIG4 Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
0.710 |
1.000 |
1 |
2004 |
2004 |
rs104894420
|
1.000 |
0.160 |
13 |
108209863 |
missense variant |
C/T
|
snv
|
|
|
LIG4 Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
0.810 |
1.000 |
2 |
2001 |
2004 |
rs104894421
|
0.882 |
0.200 |
13 |
108210436 |
missense variant |
C/A;T
|
snv
|
1.2E-05
|
|
LIG4 Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Immune System Diseases
|
0.810 |
1.000 |
2 |
2001 |
2010 |