Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137853066
rs137853066
0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06
CUI: C2748572
Disease: SeSAME syndrome
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
dbSNP: rs137853068
rs137853068
1.000 0.200 1 160042115 missense variant A/G snv
CUI: C2748572
Disease: SeSAME syndrome
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
dbSNP: rs137853069
rs137853069
1.000 0.200 1 160042042 missense variant G/A snv
CUI: C2748572
Disease: SeSAME syndrome
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
dbSNP: rs137853070
rs137853070
1.000 0.200 1 160042033 missense variant G/A snv 9.6E-06 7.0E-06
CUI: C2748572
Disease: SeSAME syndrome
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
dbSNP: rs137853071
rs137853071
1.000 0.200 1 160041644 missense variant G/A snv 4.0E-06
CUI: C2748572
Disease: SeSAME syndrome
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
dbSNP: rs137853072
rs137853072
1.000 0.200 1 160042304 missense variant C/G snv
CUI: C2748572
Disease: SeSAME syndrome
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
dbSNP: rs751625111
rs751625111
1.000 0.200 1 160042148 missense variant T/A;C snv 4.3E-06
CUI: C2748572
Disease: SeSAME syndrome
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
dbSNP: rs12133079
rs12133079
1.000 0.040 1 160046674 intron variant C/A snv 0.13
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2011 2011
dbSNP: rs137853074
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
dbSNP: rs137853066
rs137853066
0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06
CUI: C0151747
Disease: Renal tubular disorder
Renal tubular disorder
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs137853066
rs137853066
0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs137853066
rs137853066
0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06
CUI: C0023882
Disease: Little's Disease
Little's Disease
Nervous System Diseases 0.700 0
dbSNP: rs137853066
rs137853066
0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs137853066
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
dbSNP: rs137853067
rs137853067
1.000 0.200 1 160041938 stop gained G/A snv
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs137853073
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
dbSNP: rs138943405
rs138943405
1.000 0.200 1 160042457 stop gained G/A snv 1.6E-05 1.4E-05
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1557967748
rs1557967748
1.000 0.200 1 160041758 frameshift variant C/- delins
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs387906834
rs387906834
1.000 0.200 1 160042340 missense variant G/A;T snv 4.0E-06
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs587776528
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
dbSNP: rs757159382
rs757159382
1.000 0.200 1 160042308 missense variant A/C;G snv 4.4E-05
CUI: C2748572
Disease: SeSAME syndrome
SeSAME syndrome
Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Otorhinolaryngologic Diseases; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1130183
rs1130183
0.827 0.160 1 160041722 missense variant G/A snv 4.6E-02 4.7E-02
CUI: C0036572
Disease: Seizures
Seizures
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.020 1.000 2 2005 2013
dbSNP: rs1048512
rs1048512
0.882 0.080 1 160025108 3 prime UTR variant G/A;T snv 0.13
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs1048512
rs1048512
0.882 0.080 1 160025108 3 prime UTR variant G/A;T snv 0.13
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016
dbSNP: rs1048512
rs1048512
0.882 0.080 1 160025108 3 prime UTR variant G/A;T snv 0.13
CUI: C4048328
Disease: cervical cancer
cervical cancer
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2016 2016