Source: CURATED ×
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: rs1057517958
rs1057517958 		1.000 0.040 2 165991711 missense variant G/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1057518671
rs1057518671 		1.000 0.040 2 165991924 missense variant A/G;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1057519529
rs1057519529 		1.000 0.040 2 166043864 missense variant C/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519531
rs1057519531 		1.000 0.040 2 166052945 splice acceptor variant T/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1057519534
rs1057519534 		1.000 0.040 2 166013758 frameshift variant -/A delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1057521079
rs1057521079 		0.925 0.080 2 165992362 missense variant A/T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1057521079
rs1057521079 		0.925 0.080 2 165992362 missense variant A/T snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057521080
rs1057521080 		1.000 0.040 2 166037903 missense variant G/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1057521537
rs1057521537 		1.000 0.040 2 166002695 missense variant C/A;G snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs1060502182
rs1060502182 		1.000 0.040 2 166013817 frameshift variant -/A delins
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs1060502183
rs1060502183 		1.000 2 166002520 frameshift variant T/- delins
CUI: C4014430
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 21 		0.700 0
dbSNP: rs1060502185
rs1060502185 		1.000 0.040 2 166058565 splice region variant G/C;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs1060502187
rs1060502187 		1.000 0.040 2 166058641 frameshift variant G/- delins
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs1060502188
rs1060502188 		1.000 0.040 2 166012166 stop gained A/C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs1060502190
rs1060502190 		1.000 0.040 2 166002489 missense variant G/C snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs1131691465
rs1131691465 		1.000 0.040 2 166047710 missense variant T/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1131691675
rs1131691675 		1.000 0.040 2 165992296 missense variant A/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1131691773
rs1131691773 		1.000 0.080 2 165991675 missense variant A/G snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1131691774
rs1131691774 		1.000 0.040 2 165992275 missense variant A/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1131691775
rs1131691775 		1.000 0.040 2 166002623 stop lost T/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs121917915
rs121917915 		1.000 0.040 2 165994176 missense variant C/A snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121917915
rs121917915 		1.000 0.040 2 165994176 missense variant C/A snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs121917918
rs121917918 		0.851 0.040 2 166058651 missense variant C/A;T snv
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		Nervous System Diseases 0.700 0
dbSNP: rs121917929
rs121917929 		0.925 0.160 2 166046970 missense variant G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121917929
rs121917929 		0.925 0.160 2 166046970 missense variant G/A;T snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0