rs111033364
|
0.807 |
0.200 |
1 |
215728232 |
stop gained |
C/T
|
snv
|
9.2E-05
|
1.2E-04
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.720 |
1.000 |
5 |
2004 |
2019 |
rs80338902
|
0.790 |
0.200 |
1 |
216247118 |
missense variant |
C/A
|
snv
|
9.7E-04
|
1.3E-03
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.710 |
1.000 |
14 |
2000 |
2018 |
rs111033280
|
0.851 |
0.200 |
1 |
216327637 |
missense variant |
C/T
|
snv
|
1.6E-05
|
4.2E-05
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
10 |
2000 |
2018 |
rs397518048
|
0.925 |
0.200 |
1 |
215817143 |
stop gained |
C/A;G
|
snv
|
2.4E-05;
4.0E-06
|
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
9 |
2007 |
2016 |
rs767078782
|
0.882 |
0.200 |
1 |
216246784 |
stop gained |
G/C;T
|
snv
|
1.2E-05
|
7.0E-06
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
8 |
2012 |
2017 |
rs80338903
|
0.701 |
0.360 |
1 |
216247095 |
frameshift variant |
C/-
|
del
|
7.6E-04
|
5.4E-04
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
8 |
1998 |
2019 |
rs369522997
|
0.882 |
0.200 |
1 |
216325412 |
missense variant |
T/G
|
snv
|
6.8E-05
|
5.6E-05
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
7 |
2000 |
2016 |
rs886039450
|
0.882 |
0.200 |
1 |
216207401 |
frameshift variant |
GT/-
|
delins
|
|
2.1E-05
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
7 |
2004 |
2016 |
rs397518039
|
0.851 |
0.200 |
1 |
215877882 |
splice acceptor variant |
T/C
|
snv
|
3.2E-05
|
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
6 |
2008 |
2015 |
rs111033367
|
0.882 |
0.200 |
1 |
216190280 |
frameshift variant |
AG/-
|
delins
|
4.0E-06
|
7.0E-06
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
5 |
1998 |
2010 |
rs372347027
|
0.925 |
0.200 |
1 |
215867179 |
intron variant |
T/C
|
snv
|
6.8E-05
|
4.2E-05
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2014 |
2017 |
rs375668376
|
0.882 |
0.200 |
1 |
216073292 |
missense variant |
C/T
|
snv
|
1.2E-05
|
2.1E-05
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
4 |
2013 |
2015 |
rs111033518
|
0.925 |
0.200 |
1 |
215675619 |
splice region variant |
A/T
|
snv
|
4.0E-06
|
5.6E-05
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2012 |
2015 |
rs111033264
|
0.882 |
0.200 |
1 |
215782762 |
missense variant |
A/G
|
snv
|
2.4E-05
|
6.3E-05
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2008 |
2019 |
rs121912599
|
0.925 |
0.200 |
1 |
216325492 |
missense variant |
C/T
|
snv
|
6.0E-05
|
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2000 |
2016 |
rs397518022
|
0.925 |
0.200 |
1 |
216072887 |
splice donor variant |
A/G
|
snv
|
|
2.1E-05
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2008 |
2010 |
rs786200928
|
0.827 |
0.200 |
1 |
215891198 |
intron variant |
T/C
|
snv
|
|
4.2E-05
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
2 |
2012 |
2019 |
rs137954284
|
1.000 |
0.200 |
1 |
216250989 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
8.0E-06
|
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2010 |
2010 |
rs201657446
|
0.882 |
0.200 |
1 |
215889057 |
splice region variant |
G/C
|
snv
|
1.2E-05
|
2.8E-05
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |
rs397518043
|
0.851 |
0.200 |
1 |
216325524 |
frameshift variant |
-/GCTG
|
delins
|
4.0E-06;
5.6E-05
|
5.6E-05
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2000 |
2000 |
rs577938494
|
1.000 |
0.200 |
1 |
215675211 |
missense variant |
T/C;G
|
snv
|
1.2E-05
|
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2015 |
2015 |
rs727503731
|
0.851 |
0.200 |
1 |
216175368 |
frameshift variant |
-/T
|
delins
|
1.2E-05;
4.0E-06
|
1.4E-05
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2012 |
2012 |
rs762159022
|
1.000 |
0.200 |
1 |
215674957 |
stop gained |
G/A;T
|
snv
|
4.0E-06
|
7.0E-06
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2008 |
2008 |
rs770553471
|
0.882 |
0.200 |
1 |
215648684 |
missense variant |
G/A
|
snv
|
8.0E-06
|
7.0E-06
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs780308389
|
0.882 |
0.200 |
1 |
216325393 |
missense variant |
G/A
|
snv
|
8.0E-06
|
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2007 |
2007 |