rs121918370
|
1.000 |
0.120 |
18 |
46572125 |
stop gained |
G/A
|
snv
|
1.3E-05
|
1.4E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1248889536
|
|
|
18 |
46610789 |
stop gained |
C/A;T
|
snv
|
|
7.0E-06
|
Deafness
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs373937326
|
1.000 |
0.120 |
18 |
46534448 |
stop gained |
C/A;T
|
snv
|
1.3E-05;
6.3E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs749861944
|
1.000 |
0.120 |
18 |
46534452 |
splice acceptor variant |
C/G;T
|
snv
|
6.3E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs768835732
|
1.000 |
0.120 |
18 |
46524499 |
missense variant |
C/G;T
|
snv
|
2.0E-04;
6.3E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs878853231
|
1.000 |
0.120 |
18 |
46485120 |
frameshift variant |
-/C
|
delins
|
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs961865375
|
1.000 |
0.120 |
18 |
46522184 |
stop gained |
G/A
|
snv
|
8.8E-05
|
1.4E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs201587138
|
1.000 |
0.120 |
18 |
46529227 |
stop gained |
G/A;C;T
|
snv
|
6.1E-04;
6.3E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2012 |
2015 |
rs75949023
|
1.000 |
0.120 |
18 |
46524734 |
stop gained |
G/A;T
|
snv
|
1.8E-04;
1.4E-02
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2011 |
2014 |
rs72913475
|
|
|
18 |
46590193 |
intron variant |
T/C
|
snv
|
|
7.3E-02
|
Polybrominated biphenyl measurement
|
|
0.700 |
1.000 |
1 |
2017 |
2017 |
rs778568636
|
1.000 |
0.120 |
18 |
46505856 |
missense variant |
C/A
|
snv
|
6.4E-06
|
|
Nonsyndromic Deafness
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs886044666
|
1.000 |
0.120 |
18 |
46639685 |
stop gained |
T/A
|
snv
|
2.6E-05
|
2.8E-05
|
DEAFNESS, AUTOSOMAL RECESSIVE 77 (disorder)
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2017 |
2017 |