rs121909056
|
1.000 |
0.120 |
5 |
146340292 |
missense variant |
C/T
|
snv
|
|
|
Deafness, Autosomal Dominant 15
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2017 |
rs121909057
|
1.000 |
0.120 |
5 |
146340095 |
missense variant |
T/C
|
snv
|
|
|
Deafness, Autosomal Dominant 15
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
8 |
1998 |
2017 |
rs367737951
|
1.000 |
0.120 |
5 |
146339918 |
missense variant |
C/G;T
|
snv
|
2.4E-05;
2.0E-05
|
|
Deafness, Autosomal Dominant 15
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
8 |
1998 |
2017 |
rs121909057
|
1.000 |
0.120 |
5 |
146340095 |
missense variant |
T/C
|
snv
|
|
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.020 |
1.000 |
2 |
2008 |
2009 |
rs1339291105
|
1.000 |
0.120 |
5 |
146340409 |
missense variant |
A/G
|
snv
|
|
7.0E-06
|
Deafness, Autosomal Dominant 15
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1561590396
|
|
|
5 |
146339801 |
missense variant |
C/T
|
snv
|
|
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs398123070
|
1.000 |
0.120 |
5 |
146340404 |
missense variant |
G/A
|
snv
|
|
|
Deafness, Autosomal Dominant 15
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1064792854
|
1.000 |
0.120 |
5 |
146340089 |
frameshift variant |
GCTCGCTGAGCCAA/-
|
del
|
|
|
Deafness, Autosomal Dominant 15
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs398124631
|
1.000 |
0.120 |
5 |
146340307 |
frameshift variant |
TATCCAGC/-
|
delins
|
|
|
Deafness, Autosomal Dominant 15
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|