rs104894651
|
1.000 |
0.200 |
17 |
74922931 |
missense variant |
A/G
|
snv
|
|
|
USHER SYNDROME, TYPE IG
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.800 |
1.000 |
4 |
2003 |
2011 |
rs876657419
|
1.000 |
0.200 |
17 |
74923028 |
missense variant |
G/C
|
snv
|
|
2.1E-05
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs397517925
|
0.925 |
0.200 |
17 |
74919463 |
missense variant |
T/A
|
snv
|
4.1E-06
|
1.4E-05
|
USHER SYNDROME, TYPE IG
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
3 |
2003 |
2010 |
rs1322425552
|
0.851 |
0.160 |
17 |
74923048 |
missense variant |
G/A
|
snv
|
|
|
Schizophrenia
|
Mental Disorders
|
0.010 |
< 0.001 |
1 |
2007 |
2007 |
rs1322425552
|
0.851 |
0.160 |
17 |
74923048 |
missense variant |
G/A
|
snv
|
|
|
Tardive Dyskinesia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs1322425552
|
0.851 |
0.160 |
17 |
74923048 |
missense variant |
G/A
|
snv
|
|
|
Drug-induced tardive dyskinesia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Chemically-Induced Disorders
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs1322425552
|
0.851 |
0.160 |
17 |
74923048 |
missense variant |
G/A
|
snv
|
|
|
Abnormal involuntary movement
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.010 |
1.000 |
1 |
2007 |
2007 |
rs397517925
|
0.925 |
0.200 |
17 |
74919463 |
missense variant |
T/A
|
snv
|
4.1E-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
|
0.010 |
1.000 |
1 |
2005 |
2005 |
rs587776546
|
0.925 |
0.200 |
17 |
74920441 |
frameshift variant |
-/C
|
delins
|
2.0E-05
|
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2003 |
2003 |
rs397515345
|
0.925 |
0.200 |
17 |
74919985 |
frameshift variant |
ACGCTGTCCTCGTCCGAGAG/-
|
delins
|
|
|
Usher Syndrome, Type I
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2002 |
2002 |
rs104894652
|
1.000 |
0.200 |
17 |
74922961 |
stop gained |
C/T
|
snv
|
6.1E-06
|
|
USHER SYNDROME, TYPE IG
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1316299165
|
1.000 |
0.200 |
17 |
74919776 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06
|
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1316299165
|
1.000 |
0.200 |
17 |
74919776 |
missense variant |
C/A;G;T
|
snv
|
4.0E-06
|
|
USHER SYNDROME, TYPE IG
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1567939718
|
|
|
17 |
74919981 |
frameshift variant |
-/C
|
delins
|
|
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1567939793
|
|
|
17 |
74920024 |
frameshift variant |
G/-
|
delins
|
|
|
Deafness
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs1567940507
|
|
|
17 |
74920522 |
missense variant |
G/A
|
snv
|
|
|
hearing impairment
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs201866631
|
0.882 |
0.200 |
17 |
74920325 |
stop gained |
C/A;T
|
snv
|
4.1E-06;
8.1E-06
|
|
obsolete Rod-cone dystrophy
|
|
0.700 |
|
0 |
|
|
rs201866631
|
0.882 |
0.200 |
17 |
74920325 |
stop gained |
C/A;T
|
snv
|
4.1E-06;
8.1E-06
|
|
USHER SYNDROME, TYPE IG
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs201866631
|
0.882 |
0.200 |
17 |
74920325 |
stop gained |
C/A;T
|
snv
|
4.1E-06;
8.1E-06
|
|
Deafness
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs201866631
|
0.882 |
0.200 |
17 |
74920325 |
stop gained |
C/A;T
|
snv
|
4.1E-06;
8.1E-06
|
|
Congenital sensorineural hearing loss
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs397515345
|
0.925 |
0.200 |
17 |
74919985 |
frameshift variant |
ACGCTGTCCTCGTCCGAGAG/-
|
delins
|
|
|
USHER SYNDROME, TYPE IG
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs587776546
|
0.925 |
0.200 |
17 |
74920441 |
frameshift variant |
-/C
|
delins
|
2.0E-05
|
|
USHER SYNDROME, TYPE IG
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs730880268
|
1.000 |
0.200 |
17 |
74920649 |
frameshift variant |
GT/-
|
delins
|
|
|
USHER SYNDROME, TYPE IG
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs886043626
|
1.000 |
0.200 |
17 |
74919525 |
frameshift variant |
C/-
|
del
|
|
|
USHER SYNDROME, TYPE IG
|
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|