rs121965081
|
1.000 |
0.120 |
11 |
77157000 |
missense variant |
G/A;C
|
snv
|
2.7E-04;
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
3 |
1997 |
2017 |
rs121965082
|
0.925 |
0.200 |
11 |
77166162 |
missense variant |
G/A
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
3 |
1997 |
2017 |
rs111033214
|
0.882 |
0.200 |
11 |
77189348 |
missense variant |
G/A
|
snv
|
2.0E-05
|
4.2E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
10 |
1999 |
2016 |
rs111033283
|
0.882 |
0.200 |
11 |
77156909 |
missense variant |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
8 |
1997 |
2014 |
rs28934610
|
0.882 |
0.200 |
11 |
77156904 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
8 |
1996 |
2016 |
rs111033178
|
0.851 |
0.200 |
11 |
77190108 |
missense variant |
G/A
|
snv
|
7.5E-05
|
5.6E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
7 |
1999 |
2012 |
rs747656448
|
0.925 |
0.200 |
11 |
77213908 |
missense variant |
G/A
|
snv
|
2.4E-05
|
2.8E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
7 |
1999 |
2017 |
rs111033174
|
0.925 |
0.200 |
11 |
77156683 |
missense variant |
C/T
|
snv
|
2.8E-05;
2.4E-05
|
1.4E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
2011 |
2016 |
rs368657015
|
0.882 |
0.200 |
11 |
77205554 |
missense variant |
T/C
|
snv
|
2.4E-05
|
7.0E-06
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
2000 |
2012 |
rs782252317
|
0.925 |
0.200 |
11 |
77142763 |
missense variant |
G/A;T
|
snv
|
8.2E-06;
4.1E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
1997 |
2016 |
rs111033215
|
0.925 |
0.200 |
11 |
77206108 |
missense variant |
G/A
|
snv
|
3.3E-05
|
4.2E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
5 |
2010 |
2016 |
rs199897298
|
1.000 |
0.120 |
11 |
77184688 |
missense variant |
G/T
|
snv
|
2.2E-04
|
2.0E-04
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
5 |
2011 |
2017 |
rs397516321
|
0.925 |
0.200 |
11 |
77205598 |
missense variant |
C/T
|
snv
|
1.2E-05
|
1.4E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
5 |
2006 |
2017 |
rs755934966
|
0.882 |
0.200 |
11 |
77208780 |
missense variant |
G/A
|
snv
|
1.1E-05
|
6.3E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
5 |
2009 |
2016 |
rs1057517774
|
0.925 |
0.200 |
11 |
77162845 |
splice region variant |
C/G
|
snv
|
|
7.0E-06
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
1996 |
2011 |
rs111033206
|
0.925 |
0.200 |
11 |
77162854 |
missense variant |
G/A
|
snv
|
1.2E-05
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2000 |
2014 |
rs1453053718
|
0.925 |
0.200 |
11 |
77207402 |
splice region variant |
G/A
|
snv
|
|
7.0E-06
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2006 |
2014 |
rs1472566324
|
0.925 |
0.200 |
11 |
77156676 |
missense variant |
G/A
|
snv
|
|
7.0E-06
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2006 |
2016 |
rs1555067667
|
0.882 |
0.200 |
11 |
77160272 |
missense variant |
C/A
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
1997 |
2012 |
rs782166819
|
0.882 |
0.200 |
11 |
77156990 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
1.2E-05
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2000 |
2015 |
rs878853236
|
0.882 |
0.200 |
11 |
77174789 |
missense variant |
C/T
|
snv
|
4.2E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2014 |
2016 |
rs111033181
|
0.925 |
0.200 |
11 |
77156022 |
missense variant |
T/A;C
|
snv
|
2.8E-05
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2000 |
2016 |
rs111033415
|
0.925 |
0.200 |
11 |
77162118 |
splice acceptor variant |
A/G
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2005 |
2016 |
rs121965085
|
0.882 |
0.200 |
11 |
77174816 |
stop gained |
C/T
|
snv
|
1.6E-05
|
3.5E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
1999 |
2011 |
rs1555090171
|
0.925 |
0.200 |
11 |
77189343 |
splice acceptor variant |
G/C
|
snv
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 2
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2005 |
2013 |