rs267607042
|
0.851 |
0.320 |
18 |
44951942 |
missense variant |
G/A;C
|
snv
|
|
|
Schinzel-Giedion syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2010 |
2017 |
rs267607038
|
0.882 |
0.320 |
18 |
44951952 |
missense variant |
T/C;G
|
snv
|
8.0E-06
|
|
Schinzel-Giedion syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
3 |
2010 |
2017 |
rs267607039
|
1.000 |
0.240 |
18 |
44951949 |
missense variant |
G/A
|
snv
|
|
|
Schinzel-Giedion syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs267607040
|
0.851 |
0.320 |
18 |
44951948 |
missense variant |
G/A
|
snv
|
|
|
Schinzel-Giedion syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs267607041
|
1.000 |
0.240 |
18 |
44951943 |
missense variant |
A/C
|
snv
|
|
|
Schinzel-Giedion syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
1 |
2010 |
2010 |
rs606231272
|
0.925 |
0.240 |
18 |
44951213 |
stop gained |
C/T
|
snv
|
|
|
Schinzel-Giedion syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs606231273
|
0.925 |
0.240 |
18 |
44951216 |
stop gained |
C/T
|
snv
|
|
|
Schinzel-Giedion syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs797045952
|
1.000 |
0.240 |
18 |
44951160 |
frameshift variant |
C/-
|
delins
|
|
|
Schinzel-Giedion syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|