rs104894921
|
1.000 |
0.160 |
X |
83509274 |
missense variant |
T/G
|
snv
|
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
5 |
1995 |
2014 |
rs104894922
|
1.000 |
0.160 |
X |
83509324 |
missense variant |
A/G
|
snv
|
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
5 |
1995 |
2014 |
rs104894923
|
1.000 |
0.160 |
X |
83509314 |
missense variant |
A/T
|
snv
|
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
5 |
1995 |
2014 |
rs104894924
|
1.000 |
0.160 |
X |
83509291 |
missense variant |
C/G;T
|
snv
|
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
5 |
1995 |
2014 |
rs387906502
|
1.000 |
0.160 |
X |
83509259 |
missense variant |
C/T
|
snv
|
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
5 |
1995 |
2014 |
rs397516336
|
1.000 |
0.160 |
X |
83509177 |
frameshift variant |
AT/-
|
del
|
|
|
Progressive hearing loss stapes fixation
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2013 |
2013 |
rs104894920
|
1.000 |
0.160 |
X |
83508928 |
stop gained |
A/T
|
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 |
|
|
rs1454033665
|
1.000 |
0.160 |
X |
83508494 |
stop gained |
G/A
|
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 |
|
|
rs1555984570
|
1.000 |
0.160 |
X |
83508969 |
frameshift variant |
G/-
|
delins
|
|
|
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 |
|
|
rs1569280138
|
1.000 |
0.160 |
X |
83508570 |
frameshift variant |
-/C
|
delins
|
|
|
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 |
|
|
rs1569280385
|
1.000 |
0.160 |
X |
83509299 |
stop gained |
G/A
|
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 |
|
|
rs267606974
|
1.000 |
0.160 |
X |
83509219 |
frameshift variant |
A/-
|
delins
|
|
|
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 |
|
|
rs398122516
|
1.000 |
0.160 |
X |
83509272 |
frameshift variant |
-/T
|
delins
|
|
|
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 |
|
|
rs398122517
|
1.000 |
0.160 |
X |
83509381 |
frameshift variant |
A/-
|
delins
|
|
|
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 |
|
|
rs730882189
|
1.000 |
0.160 |
X |
83509183 |
frameshift variant |
AGTG/-
|
delins
|
|
|
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 |
|
|
rs780027419
|
1.000 |
0.160 |
X |
83509201 |
missense variant |
C/G;T
|
snv
|
5.5E-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 |
|
|
rs878853242
|
1.000 |
0.160 |
X |
83508559 |
stop gained |
C/T
|
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 |
|
|