rs397518413
|
0.882 |
0.400 |
18 |
51078294 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.710 |
1.000 |
3 |
2014 |
2019 |
rs281875322
|
0.807 |
0.480 |
18 |
51078306 |
missense variant |
A/G
|
snv
|
4.0E-06
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.820 |
1.000 |
4 |
2011 |
2020 |
rs281875320
|
1.000 |
0.320 |
18 |
51078308 |
missense variant |
A/G
|
snv
|
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2011 |
2012 |
rs281875321
|
0.925 |
0.360 |
18 |
51078307 |
missense variant |
T/C
|
snv
|
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
2 |
2011 |
2012 |
rs1555686624
|
0.882 |
0.480 |
18 |
51067189 |
splice donor variant |
T/C
|
snv
|
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs377767347
|
0.742 |
0.520 |
18 |
51065549 |
missense variant |
G/A;C;T
|
snv
|
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs80338965
|
0.851 |
0.480 |
18 |
51067121 |
frameshift variant |
CAGA/-
|
delins
|
|
|
Myhre syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|