Source: ALL
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: 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: rs115466046
rs115466046 		1 160042480 missense variant C/T snv 1.2E-02 1.1E-02
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs140646329
rs140646329 		1 160042283 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs137853066
rs137853066 		0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06
CUI: C0452138
Disease: Sensorineural hearing loss, bilateral
Sensorineural hearing loss, bilateral 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 0
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: 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: 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: 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: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs1186688
rs1186688 		1.000 0.040 1 160055093 intron variant T/C snv 0.41
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs12133079
rs12133079 		1.000 0.040 1 160046674 intron variant C/A snv 0.13
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs17375748
rs17375748 		1.000 0.040 1 160040361 3 prime UTR variant C/G;T snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs2486253
rs2486253 		0.882 0.080 1 160039629 3 prime UTR variant A/C;T snv
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2015 2015
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