rs368049814
|
0.851 |
0.200 |
1 |
215786715 |
missense variant |
C/T
|
snv
|
3.6E-05
|
7.7E-05
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
28 |
1998 |
2017 |
rs397517963
|
0.882 |
0.200 |
1 |
216325448 |
missense variant |
G/A;C
|
snv
|
5.6E-05
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
26 |
1998 |
2016 |
rs111033263
|
0.882 |
0.200 |
1 |
215799066 |
missense variant |
A/G
|
snv
|
4.0E-06
|
1.4E-05
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
25 |
1998 |
2014 |
rs397517990
|
0.925 |
0.200 |
1 |
215650648 |
missense variant |
C/T
|
snv
|
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
24 |
1998 |
2017 |
rs111033264
|
0.882 |
0.200 |
1 |
215782762 |
missense variant |
A/G
|
snv
|
2.4E-05
|
6.3E-05
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
23 |
1998 |
2016 |
rs111033273
|
0.882 |
0.200 |
1 |
216321921 |
missense variant |
A/G
|
snv
|
2.4E-05
|
2.8E-05
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
23 |
1998 |
2016 |
rs111033280
|
0.851 |
0.200 |
1 |
216327637 |
missense variant |
C/T
|
snv
|
1.6E-05
|
4.2E-05
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
23 |
1998 |
2015 |
rs1553261372
|
0.925 |
0.200 |
1 |
215782146 |
missense variant |
C/T
|
snv
|
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
23 |
1998 |
2014 |
rs369522997
|
0.882 |
0.200 |
1 |
216325412 |
missense variant |
T/G
|
snv
|
6.8E-05
|
5.6E-05
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
23 |
1998 |
2014 |
rs80338902
|
0.790 |
0.200 |
1 |
216247118 |
missense variant |
C/A
|
snv
|
9.7E-04
|
1.3E-03
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
22 |
1998 |
2014 |
rs121912600
|
0.925 |
0.200 |
1 |
216324240 |
missense variant |
C/A
|
snv
|
4.0E-05
|
7.7E-05
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
21 |
1998 |
2013 |
rs121912599
|
0.925 |
0.200 |
1 |
216325492 |
missense variant |
C/T
|
snv
|
6.0E-05
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
20 |
1998 |
2013 |
rs143344549
|
1.000 |
0.200 |
1 |
215648657 |
missense variant |
G/A
|
snv
|
6.4E-05
|
1.2E-04
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
20 |
1998 |
2013 |
rs527236137
|
0.925 |
0.200 |
1 |
215674901 |
missense variant |
G/A;C
|
snv
|
4.0E-06
|
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
20 |
1998 |
2013 |
rs201527662
|
0.827 |
0.200 |
1 |
216246592 |
missense variant |
A/C
|
snv
|
2.1E-04
|
6.3E-05
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.800 |
1.000 |
15 |
2000 |
2016 |
rs527236139
|
0.882 |
0.200 |
1 |
215759735 |
missense variant |
C/A;T
|
snv
|
4.0E-06;
5.6E-05
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.800 |
1.000 |
14 |
2000 |
2016 |
rs121912600
|
0.925 |
0.200 |
1 |
216324240 |
missense variant |
C/A
|
snv
|
4.0E-05
|
7.7E-05
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.800 |
1.000 |
13 |
2000 |
2013 |
rs80338902
|
0.790 |
0.200 |
1 |
216247118 |
missense variant |
C/A
|
snv
|
9.7E-04
|
1.3E-03
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.800 |
1.000 |
13 |
2000 |
2014 |
rs80338904
|
0.882 |
0.200 |
1 |
215671085 |
missense variant |
T/C;G
|
snv
|
|
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.800 |
1.000 |
10 |
2000 |
2013 |
rs202175091
|
0.925 |
0.200 |
1 |
215782070 |
missense variant |
G/A
|
snv
|
1.2E-05
|
7.0E-06
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
8 |
2006 |
2016 |
rs148660051
|
0.882 |
0.200 |
1 |
215790168 |
missense variant |
C/T
|
snv
|
3.5E-04
|
5.5E-04
|
RETINITIS PIGMENTOSA 39 (disorder)
|
|
0.800 |
1.000 |
7 |
2010 |
2015 |
rs753330544
|
0.882 |
0.200 |
1 |
215674595 |
missense variant |
G/A
|
snv
|
1.2E-05
|
1.4E-05
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
5 |
2010 |
2016 |
rs375668376
|
0.882 |
0.200 |
1 |
216073292 |
missense variant |
C/T
|
snv
|
1.2E-05
|
2.1E-05
|
USHER SYNDROME, TYPE IIA
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
4 |
2013 |
2015 |
rs80338902
|
0.790 |
0.200 |
1 |
216247118 |
missense variant |
C/A
|
snv
|
9.7E-04
|
1.3E-03
|
Retinitis Pigmentosa
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases
|
0.750 |
1.000 |
6 |
2000 |
2019 |
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 |
7 |
2004 |
2019 |