rs797044516
|
0.882 |
0.200 |
11 |
77184715 |
missense variant |
G/A;C
|
snv
|
5.1E-06;
5.1E-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 |
3 |
2014 |
2017 |
rs111033486
|
1.000 |
0.200 |
11 |
77156900 |
missense variant |
A/G
|
snv
|
2.0E-05
|
4.9E-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 |
2014 |
2015 |
rs397516332
|
0.925 |
0.200 |
11 |
77214608 |
missense variant |
G/A;T
|
snv
|
5.2E-06;
1.0E-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 |
2017 |
rs111033178
|
0.851 |
0.200 |
11 |
77190108 |
missense variant |
G/A
|
snv
|
7.5E-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 |
1999 |
1999 |
rs111033201
|
0.851 |
0.200 |
11 |
77174825 |
stop gained |
C/A;G;T
|
snv
|
4.0E-06;
4.0E-06;
1.6E-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 |
1998 |
1998 |
rs111033347
|
0.882 |
0.200 |
11 |
77190709 |
frameshift variant |
A/-
|
delins
|
|
|
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 |
rs1199012623
|
0.882 |
0.200 |
11 |
77199804 |
frameshift variant |
A/-
|
del
|
8.3E-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 |
rs782166819
|
0.882 |
0.200 |
11 |
77156990 |
missense variant |
C/G;T
|
snv
|
4.0E-06;
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 |
2000 |
2000 |
rs116892396
|
1.000 |
0.200 |
11 |
77155945 |
stop gained |
C/A;T
|
snv
|
1.2E-03
|
3.0E-04
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1171417339
|
1.000 |
0.200 |
11 |
77181950 |
splice acceptor variant |
G/A
|
snv
|
|
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1383147250
|
1.000 |
0.200 |
11 |
77213972 |
missense variant |
C/T
|
snv
|
|
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 |
|
0 |
|
|
rs1555051390
|
1.000 |
0.200 |
11 |
77142707 |
coding sequence variant |
-/G
|
delins
|
|
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1555078942
|
1.000 |
0.200 |
11 |
77174797 |
frameshift variant |
A/-
|
del
|
|
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs750358148
|
0.925 |
0.200 |
11 |
77190117 |
missense variant |
C/A;G;T
|
snv
|
1.1E-05;
1.1E-05
|
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1296612982
|
0.925 |
0.200 |
11 |
77181522 |
missense variant |
T/G
|
snv
|
|
|
Usher Syndrome
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.010 |
1.000 |
1 |
2014 |
2014 |