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: rs796053174
rs796053174 		1.000 0.040 2 165310515 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs869312663
rs869312663 		0.882 0.200 2 165381114 missense variant A/G snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 1 2017 2017
dbSNP: rs869312663
rs869312663 		0.882 0.200 2 165381114 missense variant A/G snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1057519523
rs1057519523 		1.000 2 165373342 missense variant A/G snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1553567473
rs1553567473 		0.925 0.040 2 165309193 missense variant A/G snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1553567473
rs1553567473 		0.925 0.040 2 165309193 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1558886146
rs1558886146 		0.925 0.080 2 165389112 missense variant A/G snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1558886146
rs1558886146 		0.925 0.080 2 165389112 missense variant A/G snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1559352550
rs1559352550 		0.925 0.080 2 165309404 missense variant A/G snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1559352550
rs1559352550 		0.925 0.080 2 165309404 missense variant A/G snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs869312663
rs869312663 		0.882 0.200 2 165381114 missense variant A/G snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs869312663
rs869312663 		0.882 0.200 2 165381114 missense variant A/G snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs869312663
rs869312663 		0.882 0.200 2 165381114 missense variant A/G snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs370114048
rs370114048 		0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06
CUI: C0037769
Disease: West Syndrome
West Syndrome 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs370114048
rs370114048 		0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06
CUI: C0014544
Disease: Epilepsy
Epilepsy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs370114048
rs370114048 		0.882 0.080 2 165310541 missense variant A/G;T snv 4.0E-06
CUI: C3887898
Disease: Infantile Spasm
Infantile Spasm 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs796053122
rs796053122 		1.000 0.080 2 165344714 stop gained A/G;T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1235044536
rs1235044536 		1.000 2 165310331 missense variant A/T snv 4.0E-06
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 1.000 20 2009 2019
dbSNP: rs1553564139
rs1553564139 		1.000 2 165295824 start lost A/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1553569789
rs1553569789 		0.925 0.080 2 165315687 stop gained A/T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1553569789
rs1553569789 		0.925 0.080 2 165315687 stop gained A/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1057518658
rs1057518658 		1.000 0.040 2 165331409 frameshift variant AC/- del
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1553569662
rs1553569662 		0.925 0.080 2 165315616 frameshift variant AGAA/- delins
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1553569662
rs1553569662 		0.925 0.080 2 165315616 frameshift variant AGAA/- delins
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1559353540
rs1559353540 		0.925 0.080 2 165310586 splice donor variant AGGATAAAAG/- delins
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0