rs137853066
|
0.827 |
0.320 |
1 |
160042339 |
missense variant |
C/G;T
|
snv
|
8.0E-06
|
|
SeSAME syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2009 |
2014 |
rs137853068
|
1.000 |
0.200 |
1 |
160042115 |
missense variant |
A/G
|
snv
|
|
|
SeSAME syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2009 |
2014 |
rs137853069
|
1.000 |
0.200 |
1 |
160042042 |
missense variant |
G/A
|
snv
|
|
|
SeSAME syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2009 |
2014 |
rs137853070
|
1.000 |
0.200 |
1 |
160042033 |
missense variant |
G/A
|
snv
|
9.6E-06
|
7.0E-06
|
SeSAME syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2009 |
2014 |
rs137853071
|
1.000 |
0.200 |
1 |
160041644 |
missense variant |
G/A
|
snv
|
4.0E-06
|
|
SeSAME syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2009 |
2014 |
rs137853072
|
1.000 |
0.200 |
1 |
160042304 |
missense variant |
C/G
|
snv
|
|
|
SeSAME syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.800 |
1.000 |
4 |
2009 |
2014 |
rs751625111
|
1.000 |
0.200 |
1 |
160042148 |
missense variant |
T/A;C
|
snv
|
4.3E-06
|
|
SeSAME syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
1.000 |
4 |
2009 |
2014 |
rs12133079
|
1.000 |
0.040 |
1 |
160046674 |
intron variant |
C/A
|
snv
|
|
0.13
|
White Blood Cell Count procedure
|
|
0.700 |
1.000 |
1 |
2011 |
2011 |
rs137853074
|
1.000 |
0.120 |
1 |
160041491 |
missense variant |
G/A;T
|
snv
|
1.8E-04
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
1.000 |
1 |
2009 |
2009 |
rs137853066
|
0.827 |
0.320 |
1 |
160042339 |
missense variant |
C/G;T
|
snv
|
8.0E-06
|
|
Renal tubular disorder
|
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases
|
0.700 |
|
0 |
|
|
rs137853066
|
0.827 |
0.320 |
1 |
160042339 |
missense variant |
C/G;T
|
snv
|
8.0E-06
|
|
Cerebellar Ataxia
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137853066
|
0.827 |
0.320 |
1 |
160042339 |
missense variant |
C/G;T
|
snv
|
8.0E-06
|
|
Little's Disease
|
Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs137853066
|
0.827 |
0.320 |
1 |
160042339 |
missense variant |
C/G;T
|
snv
|
8.0E-06
|
|
Microcephaly (physical finding)
|
|
0.700 |
|
0 |
|
|
rs137853066
|
0.827 |
0.320 |
1 |
160042339 |
missense variant |
C/G;T
|
snv
|
8.0E-06
|
|
Sensorineural hearing loss, bilateral
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs137853067
|
1.000 |
0.200 |
1 |
160041938 |
stop gained |
G/A
|
snv
|
|
|
SeSAME syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs137853073
|
1.000 |
0.120 |
1 |
160041952 |
missense variant |
G/T
|
snv
|
4.0E-06
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases
|
0.700 |
|
0 |
|
|
rs138943405
|
1.000 |
0.200 |
1 |
160042457 |
stop gained |
G/A
|
snv
|
1.6E-05
|
1.4E-05
|
SeSAME syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1557967748
|
1.000 |
0.200 |
1 |
160041758 |
frameshift variant |
C/-
|
delins
|
|
|
SeSAME syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs387906834
|
1.000 |
0.200 |
1 |
160042340 |
missense variant |
G/A;T
|
snv
|
4.0E-06
|
|
SeSAME syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs587776528
|
1.000 |
0.080 |
1 |
160032009 |
intron variant |
G/C
|
snv
|
|
|
Glycosylphosphatidylinositol deficiency
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.700 |
|
0 |
|
|
rs757159382
|
1.000 |
0.200 |
1 |
160042308 |
missense variant |
A/C;G
|
snv
|
4.4E-05
|
|
SeSAME syndrome
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms
|
0.700 |
|
0 |
|
|
rs1130183
|
0.827 |
0.160 |
1 |
160041722 |
missense variant |
G/A
|
snv
|
4.6E-02
|
4.7E-02
|
Seizures
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases
|
0.020 |
1.000 |
2 |
2005 |
2013 |
rs1048512
|
0.882 |
0.080 |
1 |
160025108 |
3 prime UTR variant |
G/A;T
|
snv
|
|
0.13
|
Malignant tumor of cervix
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1048512
|
0.882 |
0.080 |
1 |
160025108 |
3 prime UTR variant |
G/A;T
|
snv
|
|
0.13
|
Cervix carcinoma
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
0.010 |
1.000 |
1 |
2016 |
2016 |
rs1048512
|
0.882 |
0.080 |
1 |
160025108 |
3 prime UTR variant |
G/A;T
|
snv
|
|
0.13
|
cervical cancer
|
Neoplasms; Female Urogenital Diseases and Pregnancy Complications
|
0.010 |
1.000 |
1 |
2016 |
2016 |