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 |
rs76434661
|
0.763 |
0.280 |
13 |
20189166 |
missense variant |
C/T
|
snv
|
2.9E-04
|
4.6E-04
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
10 |
2001 |
2014 |
rs104894402
|
0.882 |
0.200 |
13 |
20189359 |
missense variant |
G/A;C
|
snv
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
9 |
1998 |
2009 |
rs104894406
|
0.925 |
0.200 |
13 |
20188977 |
missense variant |
C/A
|
snv
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
7 |
1998 |
2009 |
rs104894407
|
0.925 |
0.120 |
13 |
20189450 |
stop gained |
C/G;T
|
snv
|
2.8E-05
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
7 |
1998 |
2009 |
rs104894413
|
0.776 |
0.280 |
13 |
20189451 |
stop gained |
C/G;T
|
snv
|
2.4E-05
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
7 |
1998 |
2009 |
rs28931595
|
0.925 |
0.200 |
13 |
20189047 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
7 |
1998 |
2009 |
rs777236559
|
1.000 |
0.120 |
13 |
20188993 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
4.0E-06
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
7 |
1998 |
2009 |
rs80338939
|
0.732 |
0.280 |
13 |
20189547 |
frameshift variant |
C/-;CC
|
delins
|
|
6.4E-03
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
7 |
1997 |
2007 |
rs80338950
|
0.752 |
0.280 |
13 |
20189031 |
missense variant |
C/G;T
|
snv
|
6.0E-05
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
7 |
1998 |
2009 |
rs786204597
|
0.925 |
0.120 |
13 |
20188984 |
stop gained |
C/A;T
|
snv
|
1.6E-05
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
2009 |
2014 |
rs104894408
|
0.742 |
0.280 |
13 |
20189548 |
missense variant |
C/A;G
|
snv
|
5.1E-04
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
5 |
2004 |
2015 |
rs1057517519
|
0.925 |
0.120 |
13 |
20189523 |
missense variant |
A/G
|
snv
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
5 |
2001 |
2014 |
rs779018464
|
0.925 |
0.120 |
13 |
20189193 |
missense variant |
C/G;T
|
snv
|
4.0E-06
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
5 |
2003 |
2013 |
rs104894409
|
0.827 |
0.120 |
13 |
20189332 |
missense variant |
C/A;G;T
|
snv
|
1.6E-05;
3.6E-05;
4.0E-06
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2007 |
2014 |
rs587783647
|
0.925 |
0.120 |
13 |
20188932 |
frameshift variant |
TCTA/-
|
delins
|
4.8E-05
|
2.1E-05
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2000 |
2014 |
rs767178508
|
0.851 |
0.120 |
13 |
20189143 |
missense variant |
C/T
|
snv
|
1.2E-05
|
4.2E-05
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2004 |
2010 |
rs80338943
|
0.851 |
0.120 |
13 |
20189347 |
frameshift variant |
G/-
|
delins
|
4.7E-04;
4.0E-06
|
2.1E-04
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
1999 |
2003 |
rs199883710
|
0.925 |
0.120 |
13 |
20189344 |
stop gained |
G/A
|
snv
|
8.0E-06
|
6.3E-05
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2006 |
2007 |
rs371086981
|
0.925 |
0.120 |
13 |
20189580 |
start lost |
A/C;G
|
snv
|
4.0E-06
|
2.8E-05
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2002 |
2011 |
rs397516873
|
0.925 |
0.120 |
13 |
20189514 |
frameshift variant |
ATCTTTCCAATGCTGGTGGAGTGTTTGTTCACACCCCC/-
|
del
|
2.0E-05
|
1.4E-05
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2005 |
2011 |
rs1057517521
|
0.925 |
0.120 |
13 |
20189006 |
frameshift variant |
TG/-
|
delins
|
|
|
DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2005 |
2005 |