rs104894396
|
0.672 |
0.400 |
13 |
20189511 |
stop gained |
C/T
|
snv
|
5.8E-04
|
1.1E-04
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs104894398
|
0.776 |
0.280 |
13 |
20189443 |
stop gained |
C/A;T
|
snv
|
1.3E-04;
4.0E-06
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs104894408
|
0.742 |
0.280 |
13 |
20189548 |
missense variant |
C/A;G
|
snv
|
5.1E-04
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs104894413
|
0.776 |
0.280 |
13 |
20189451 |
stop gained |
C/G;T
|
snv
|
2.4E-05
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs111033293
|
0.763 |
0.280 |
13 |
20189581 |
start lost |
T/A;C
|
snv
|
3.6E-05
|
4.2E-05
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs111033294
|
0.763 |
0.280 |
13 |
20188965 |
missense variant |
T/C
|
snv
|
9.6E-05
|
1.8E-04
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs111033299
|
0.763 |
0.280 |
13 |
20189299 |
missense variant |
C/T
|
snv
|
4.8E-05
|
7.7E-05
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs371024165
|
0.763 |
0.400 |
13 |
20189488 |
missense variant |
G/A;T
|
snv
|
3.2E-05;
8.0E-06
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs72474224
|
0.708 |
0.440 |
13 |
20189473 |
missense variant |
C/A;T
|
snv
|
7.7E-03
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs727503066
|
0.776 |
0.280 |
13 |
20189203 |
missense variant |
G/A;C
|
snv
|
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs76434661
|
0.763 |
0.280 |
13 |
20189166 |
missense variant |
C/T
|
snv
|
2.9E-04
|
4.6E-04
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs774518779
|
0.776 |
0.280 |
13 |
20189076 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs80338940
|
0.763 |
0.280 |
13 |
20192782 |
splice donor variant |
C/T
|
snv
|
|
2.3E-04
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs80338944
|
0.763 |
0.280 |
13 |
20189351 |
stop gained |
C/T
|
snv
|
1.4E-04
|
4.2E-05
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs80338945
|
0.695 |
0.440 |
13 |
20189313 |
missense variant |
A/G
|
snv
|
6.4E-04
|
6.4E-04
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs80338948
|
0.763 |
0.280 |
13 |
20189155 |
missense variant |
G/A
|
snv
|
1.2E-04
|
2.0E-04
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs80338950
|
0.752 |
0.280 |
13 |
20189031 |
missense variant |
C/G;T
|
snv
|
6.0E-05
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|