rs11203200
|
0.925 |
0.080 |
21 |
42394466 |
intron variant |
G/A
|
snv
|
|
9.4E-02
|
Breast Carcinoma
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs11203200
|
0.925 |
0.080 |
21 |
42394466 |
intron variant |
G/A
|
snv
|
|
9.4E-02
|
Malignant neoplasm of breast
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
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 |
|
|
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 |
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 |
rs181949335
|
0.925 |
0.120 |
21 |
42382101 |
missense variant |
C/T
|
snv
|
1.4E-04
|
1.9E-04
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.020 |
1.000 |
2 |
2007 |
2017 |
rs139805921
|
1.000 |
0.120 |
21 |
42388935 |
missense variant |
G/A
|
snv
|
2.1E-04
|
1.0E-04
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs139805921
|
1.000 |
0.120 |
21 |
42388935 |
missense variant |
G/A
|
snv
|
2.1E-04
|
1.0E-04
|
Profound hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
rs145913750
|
|
|
21 |
42383169 |
missense variant |
G/A
|
snv
|
2.4E-05
|
2.1E-05
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs181949335
|
0.925 |
0.120 |
21 |
42382101 |
missense variant |
C/T
|
snv
|
1.4E-04
|
1.9E-04
|
Profound hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2017 |
2017 |
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 |
|
|
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 |
|
|
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 |
|
|
rs1429442821
|
1.000 |
0.120 |
21 |
42380116 |
splice donor variant |
C/T
|
snv
|
|
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
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 |
rs727503493
|
1.000 |
0.120 |
21 |
42389043 |
frameshift variant |
G/-
|
delins
|
4.9E-04
|
5.7E-04
|
Movement Disorders
|
Nervous System Diseases
|
0.700 |
1.000 |
6 |
2003 |
2017 |
rs1237955948
|
1.000 |
0.120 |
21 |
42382235 |
splice acceptor variant |
C/A;T
|
snv
|
8.0E-06
|
|
hearing impairment
|
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 |
|
|
rs3814903
|
0.925 |
0.080 |
21 |
42397008 |
upstream gene variant |
G/T
|
snv
|
|
0.36
|
Malignant neoplasm of breast
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |
rs3814903
|
0.925 |
0.080 |
21 |
42397008 |
upstream gene variant |
G/T
|
snv
|
|
0.36
|
Breast Carcinoma
|
Neoplasms; Skin and Connective Tissue Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |