rs727502766
|
1.000 |
0.240 |
16 |
79599742 |
missense variant |
G/A
|
snv
|
|
|
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
|
0 |
|
|
rs727502767
|
1.000 |
0.240 |
16 |
79599731 |
missense variant |
T/C
|
snv
|
|
|
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
|
0 |
|
|
rs727502768
|
0.925 |
0.240 |
16 |
79599697 |
missense variant |
G/C
|
snv
|
|
|
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
|
0 |
|
|
rs727502769
|
1.000 |
0.240 |
16 |
79599730 |
missense variant |
G/A
|
snv
|
|
|
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
|
0 |
|
|
rs727502770
|
1.000 |
0.240 |
16 |
79599727 |
missense variant |
G/A;T
|
snv
|
|
|
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
|
0 |
|
|
rs727502771
|
1.000 |
0.240 |
16 |
79599718 |
missense variant |
G/C
|
snv
|
|
|
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
|
0 |
|
|
rs1481963503
|
0.925 |
0.240 |
16 |
79598998 |
missense variant |
G/A
|
snv
|
|
|
Cataracts, Congenital, with Sensorineural Deafness, Down Syndrome-Like Facial Appearance, Short Stature, and Mental Retardation
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|