rs104894396
|
0.672 |
0.400 |
13 |
20189511 |
stop gained |
C/T
|
snv
|
5.8E-04
|
1.1E-04
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs104894397
|
0.882 |
0.120 |
13 |
20189353 |
missense variant |
A/G
|
snv
|
4.0E-05
|
1.1E-04
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; 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
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057517491
|
0.776 |
0.240 |
13 |
20189448 |
frameshift variant |
C/-
|
delins
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1057517508
|
0.925 |
0.120 |
13 |
20189068 |
frameshift variant |
A/-
|
del
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1064797088
|
0.925 |
0.120 |
13 |
20189446 |
missense variant |
C/T
|
snv
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1064797089
|
1.000 |
0.120 |
13 |
20189418 |
missense variant |
G/T
|
snv
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1064797090
|
1.000 |
0.120 |
13 |
20189410 |
missense variant |
G/A;C
|
snv
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; 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
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; 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
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; 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
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1566528901
|
1.000 |
0.120 |
13 |
20189455 |
inframe deletion |
CCT/-
|
delins
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; 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
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs72474224
|
0.708 |
0.440 |
13 |
20189473 |
missense variant |
C/A;T
|
snv
|
7.7E-03
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs727503066
|
0.776 |
0.280 |
13 |
20189203 |
missense variant |
G/A;C
|
snv
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs774518779
|
0.776 |
0.280 |
13 |
20189076 |
missense variant |
C/T
|
snv
|
8.0E-06
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs80338940
|
0.763 |
0.280 |
13 |
20192782 |
splice donor variant |
C/T
|
snv
|
|
2.3E-04
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; 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
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; 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
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; 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
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs80338949
|
1.000 |
0.120 |
13 |
20189095 |
missense variant |
T/C;G
|
snv
|
1.4E-04
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs104894401
|
0.851 |
0.120 |
13 |
20189154 |
missense variant |
C/T
|
snv
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
18 |
1998 |
2015 |
rs1801002
|
0.925 |
0.120 |
13 |
20189547 |
missense variant |
C/A;T
|
snv
|
9.2E-05;
7.2E-05
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
12 |
2000 |
2015 |
rs111033190
|
0.925 |
0.120 |
13 |
20189487 |
missense variant |
C/A;T
|
snv
|
3.2E-05;
4.0E-06
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
11 |
2001 |
2015 |
rs111033295
|
0.925 |
0.120 |
13 |
20189217 |
missense variant |
T/A;G
|
snv
|
6.0E-05
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
10 |
2002 |
2016 |