rs137852999
|
1.000 |
0.120 |
21 |
42383062 |
missense variant |
C/G
|
snv
|
|
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
6 |
2001 |
2005 |
rs137853000
|
1.000 |
0.120 |
21 |
42383168 |
missense variant |
C/A;T
|
snv
|
8.0E-06
|
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
6 |
2001 |
2005 |
rs28939084
|
1.000 |
0.120 |
21 |
42375852 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
6 |
2001 |
2005 |
rs387906915
|
1.000 |
0.120 |
21 |
42388943 |
missense variant |
T/C
|
snv
|
|
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
6 |
2001 |
2005 |
rs727503493
|
1.000 |
0.120 |
21 |
42389043 |
frameshift variant |
G/-
|
delins
|
4.9E-04
|
5.7E-04
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
2002 |
2016 |
rs181949335
|
0.925 |
0.120 |
21 |
42382101 |
missense variant |
C/T
|
snv
|
1.4E-04
|
1.9E-04
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
5 |
2007 |
2017 |
rs147231991
|
1.000 |
0.120 |
21 |
42388436 |
missense variant |
G/T
|
snv
|
9.2E-04
|
1.2E-03
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2005 |
2012 |
rs1060499811
|
1.000 |
0.120 |
21 |
42384004 |
stop gained |
A/T
|
snv
|
|
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1237955948
|
1.000 |
0.120 |
21 |
42382235 |
splice acceptor variant |
C/A;T
|
snv
|
8.0E-06
|
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1333651774
|
1.000 |
0.120 |
21 |
42384005 |
missense variant |
C/A
|
snv
|
4.0E-06
|
7.0E-06
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1429442821
|
1.000 |
0.120 |
21 |
42380116 |
splice donor variant |
C/T
|
snv
|
|
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs56264519
|
1.000 |
0.120 |
21 |
42375787 |
missense variant |
C/T
|
snv
|
9.7E-04
|
1.0E-03
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs773780151
|
1.000 |
0.120 |
21 |
42375844 |
missense variant |
A/G
|
snv
|
3.6E-05
|
7.0E-06
|
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|