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: rs1053074
rs1053074 		0.925 0.040 1 160039331 3 prime UTR variant A/C snv 0.46
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1053074
rs1053074 		0.925 0.040 1 160039331 3 prime UTR variant A/C snv 0.46
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
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: rs2486253
rs2486253 		0.882 0.080 1 160039629 3 prime UTR variant A/C;T snv
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
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: rs2486253
rs2486253 		0.882 0.080 1 160039629 3 prime UTR variant A/C;T snv
CUI: C0270850
Disease: Idiopathic generalized epilepsy
Idiopathic generalized epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
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: rs12729701
rs12729701 		0.925 0.040 1 160042616 intron variant A/G snv 0.19
CUI: C0014553
Disease: Absence Epilepsy
Absence Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12729701
rs12729701 		0.925 0.040 1 160042616 intron variant A/G snv 0.19
CUI: C4281785
Disease: Childhood Absence Epilepsy
Childhood Absence Epilepsy 		Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs61822012
rs61822012 		1.000 0.040 1 160071368 intron variant A/G snv 0.22
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 < 0.001 1 2015 2015
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: 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: 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: 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: 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: rs137853066
rs137853066 		0.827 0.320 1 160042339 missense variant C/G;T snv 8.0E-06
CUI: C0220983
Disease: Metabolic alkalosis
Metabolic alkalosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
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: 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
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: 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: rs115466046
rs115466046 		1 160042480 missense variant C/T snv 1.2E-02 1.1E-02
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 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