rs1568119124
|
1.000 |
0.280 |
18 |
49258494 |
splice acceptor variant |
C/T
|
snv
|
|
|
Dyggve-Melchior-Clausen syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1568264929
|
1.000 |
0.280 |
18 |
49331864 |
frameshift variant |
T/-
|
delins
|
|
|
Dyggve-Melchior-Clausen syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1568319747
|
1.000 |
0.280 |
18 |
49363235 |
splice acceptor variant |
T/C
|
snv
|
|
|
Dyggve-Melchior-Clausen syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs120074161
|
1.000 |
0.280 |
18 |
49430347 |
stop gained |
G/A;C
|
snv
|
4.0E-06;
4.0E-06
|
|
Dyggve-Melchior-Clausen syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs120074162
|
1.000 |
0.280 |
18 |
49378592 |
stop gained |
A/G;T
|
snv
|
4.0E-06;
4.0E-06
|
|
Dyggve-Melchior-Clausen syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs120074163
|
1.000 |
0.280 |
18 |
49257065 |
missense variant |
T/A
|
snv
|
8.0E-06
|
|
Dyggve-Melchior-Clausen syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
3 |
2003 |
2009 |
rs775414124
|
0.925 |
0.280 |
18 |
49332008 |
splice acceptor variant |
T/C
|
snv
|
1.6E-05
|
1.4E-05
|
Dyggve-Melchior-Clausen syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1471488189
|
1.000 |
0.280 |
18 |
49044187 |
frameshift variant |
T/-
|
delins
|
3.2E-05
|
|
Dyggve-Melchior-Clausen syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|