rs111033307
|
0.851 |
0.240 |
7 |
107694473 |
missense variant |
T/G
|
snv
|
1.0E-04
|
7.7E-05
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.820 |
1.000 |
23 |
1997 |
2013 |
rs121908362
|
0.882 |
0.280 |
7 |
107710132 |
missense variant |
A/G
|
snv
|
1.2E-04
|
3.5E-05
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.820 |
1.000 |
23 |
1997 |
2014 |
rs111033199
|
0.882 |
0.160 |
7 |
107672245 |
missense variant |
G/A;C;T
|
snv
|
1.8E-04;
4.0E-06
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.810 |
1.000 |
34 |
1997 |
2017 |
rs111033257
|
0.925 |
0.160 |
7 |
107700162 |
missense variant |
G/A
|
snv
|
|
1.4E-05
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.810 |
1.000 |
28 |
1997 |
2014 |
rs111033256
|
0.882 |
0.160 |
7 |
107675060 |
missense variant |
T/A
|
snv
|
2.0E-04
|
3.5E-05
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.810 |
1.000 |
25 |
1997 |
2013 |
rs111033348
|
0.925 |
0.160 |
7 |
107674326 |
missense variant |
C/T
|
snv
|
2.0E-05
|
7.0E-06
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.810 |
1.000 |
24 |
1997 |
2016 |
rs121908363
|
0.925 |
0.160 |
7 |
107710126 |
missense variant |
C/T
|
snv
|
5.2E-05
|
2.8E-05
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.810 |
1.000 |
23 |
1997 |
2014 |
rs28939086
|
0.925 |
0.160 |
7 |
107690220 |
missense variant |
A/C;G
|
snv
|
2.0E-04;
4.0E-06
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.810 |
1.000 |
21 |
1997 |
2013 |
rs80338848
|
0.851 |
0.240 |
7 |
107675051 |
missense variant |
T/C
|
snv
|
2.7E-04
|
3.4E-04
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.810 |
1.000 |
21 |
1997 |
2019 |
rs111033220
|
0.925 |
0.160 |
7 |
107690203 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.8E-04
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
36 |
1997 |
2017 |
rs111033305
|
0.925 |
0.160 |
7 |
107690200 |
missense variant |
G/A;C
|
snv
|
1.0E-04;
8.0E-06
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
34 |
1997 |
2014 |
rs111033220
|
0.925 |
0.160 |
7 |
107690203 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.8E-04
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
33 |
1998 |
2019 |
rs111033212
|
0.851 |
0.240 |
7 |
107689054 |
missense variant |
T/A;C
|
snv
|
4.0E-06;
8.6E-04
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
29 |
1997 |
2017 |
rs539699299
|
0.851 |
0.160 |
7 |
107661725 |
missense variant |
C/A;G
|
snv
|
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
27 |
1997 |
2014 |
rs111033303
|
0.925 |
0.160 |
7 |
107674970 |
missense variant |
G/T
|
snv
|
3.0E-04
|
3.8E-04
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
25 |
1997 |
2014 |
rs111033305
|
0.925 |
0.160 |
7 |
107690200 |
missense variant |
G/A;C
|
snv
|
1.0E-04;
8.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
25 |
1998 |
2019 |
rs28939086
|
0.925 |
0.160 |
7 |
107690220 |
missense variant |
A/C;G
|
snv
|
2.0E-04;
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
24 |
1998 |
2019 |
rs763006761
|
0.925 |
0.160 |
7 |
107700135 |
missense variant |
A/G
|
snv
|
1.6E-05
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
23 |
1997 |
2017 |
rs111033307
|
0.851 |
0.240 |
7 |
107694473 |
missense variant |
T/G
|
snv
|
1.0E-04
|
7.7E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
22 |
1998 |
2018 |
rs111033316
|
1.000 |
0.160 |
7 |
107696036 |
missense variant |
A/G
|
snv
|
5.6E-05
|
6.3E-05
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
22 |
1997 |
2016 |
rs145254330
|
0.925 |
0.160 |
7 |
107672182 |
missense variant |
C/T
|
snv
|
3.3E-04
|
1.7E-04
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
22 |
1997 |
2017 |
rs111033205
|
0.882 |
0.240 |
7 |
107661726 |
stop gained |
G/C;T
|
snv
|
9.3E-05;
6.2E-06
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
21 |
1997 |
2013 |
rs111033244
|
1.000 |
0.160 |
7 |
107690125 |
missense variant |
A/G
|
snv
|
1.1E-04
|
1.5E-04
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
20 |
1997 |
2009 |
rs111033254
|
1.000 |
0.160 |
7 |
107698085 |
missense variant |
T/C
|
snv
|
2.0E-05
|
2.1E-05
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
20 |
1997 |
2014 |
rs121908365
|
0.925 |
0.160 |
7 |
107672230 |
missense variant |
T/A;C
|
snv
|
|
|
Pendred's syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Endocrine System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
20 |
1997 |
2016 |