rs1554354370
|
1.000 |
0.120 |
7 |
107672228 |
missense variant |
C/T
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
12 |
1998 |
2017 |
rs1554355011
|
1.000 |
0.120 |
7 |
107674944 |
splice acceptor variant |
G/A
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2003 |
2015 |
rs141142414
|
1.000 |
0.120 |
7 |
107663427 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06;
2.0E-05
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2006 |
2017 |
rs1554352676
|
1.000 |
0.120 |
7 |
107663357 |
missense variant |
C/T
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2007 |
2014 |
rs749013429
|
1.000 |
0.120 |
7 |
107702030 |
missense variant |
C/A;T
|
snv
|
2.4E-05;
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2014 |
2016 |
rs121908366
|
1.000 |
0.120 |
7 |
107696035 |
missense variant |
C/A
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs1399914687
|
1.000 |
0.120 |
7 |
107704370 |
missense variant |
T/C;G
|
snv
|
4.4E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs1554352234
|
1.000 |
0.120 |
7 |
107661723 |
missense variant |
A/G
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2014 |
2014 |
rs111033380
|
1.000 |
0.120 |
7 |
107674337 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1284633493
|
1.000 |
0.120 |
7 |
107694478 |
stop gained |
A/G;T
|
snv
|
|
7.0E-06
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1315422549
|
1.000 |
0.120 |
7 |
107675098 |
missense variant |
T/C
|
snv
|
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554360678
|
1.000 |
0.120 |
7 |
107700115 |
frameshift variant |
-/T
|
delins
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554360816
|
1.000 |
0.120 |
7 |
107701069 |
intron variant |
TAAGTAACTTGACATTT/-
|
delins
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1554362735
|
1.000 |
0.120 |
7 |
107710069 |
frameshift variant |
-/GCTGG
|
delins
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1562835480
|
1.000 |
0.120 |
7 |
107694457 |
stop gained |
A/T
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1562835515
|
1.000 |
0.120 |
7 |
107694478 |
frameshift variant |
A/-
|
delins
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs200511789
|
1.000 |
0.120 |
7 |
107695963 |
missense variant |
A/C
|
snv
|
3.8E-04
|
1.0E-04
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs371544695
|
1.000 |
0.120 |
7 |
107661750 |
stop gained |
G/C;T
|
snv
|
2.7E-05
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs727505080
|
1.000 |
0.120 |
7 |
107683277 |
missense variant |
G/A
|
snv
|
2.3E-04
|
9.1E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs746427774
|
1.000 |
0.120 |
7 |
107700155 |
frameshift variant |
A/-;AA
|
delins
|
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs747636919
|
1.000 |
0.120 |
7 |
107698086 |
missense variant |
A/C
|
snv
|
8.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
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 |
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 |
rs111033308
|
0.925 |
0.160 |
7 |
107695984 |
missense variant |
G/A;C
|
snv
|
2.0E-05
|
6.3E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
19 |
1998 |
2018 |