Disease: Early Infantile Epileptic Encephalopathy 6 ×
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: 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: rs1057519530
rs1057519530 		1.000 0.040 2 166052864 missense variant A/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 1 2010 2010
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: rs1057519533
rs1057519533 		1.000 0.040 2 165994184 missense variant T/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 1 2010 2010
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: 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: rs1057523858
rs1057523858 		0.925 0.040 2 166047647 missense variant A/T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 20 2003 2017
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: rs1131691581
rs1131691581 		1.000 0.040 2 165992349 missense variant C/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 20 2003 2017
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: 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: rs121917907
rs121917907 		1.000 0.040 2 166073435 missense variant A/G snv 7.0E-06
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 21 2003 2017
dbSNP: rs121917908
rs121917908 		1.000 0.040 2 165999764 stop gained C/A;G;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 21 2003 2017
dbSNP: rs121917909
rs121917909 		1.000 0.040 2 166051967 missense variant G/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 21 2003 2017
dbSNP: rs121917911
rs121917911 		1.000 0.040 2 166013752 missense variant C/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 21 2003 2017
dbSNP: rs121917912
rs121917912 		1.000 0.040 2 166012254 missense variant C/T snv 7.0E-06
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 20 2003 2017
dbSNP: rs121917913
rs121917913 		1.000 0.040 2 166002491 missense variant T/C snv 4.0E-06
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 21 2003 2017
dbSNP: rs121917914
rs121917914 		1.000 0.040 2 165992387 missense variant C/G;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 21 2003 2017
dbSNP: rs121917915
rs121917915 		1.000 0.040 2 165994176 missense variant C/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 21 2003 2017
dbSNP: rs121917916
rs121917916 		1.000 0.040 2 165991916 missense variant C/T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 21 2003 2017
dbSNP: rs121917917
rs121917917 		1.000 0.040 2 166037852 missense variant C/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 21 2003 2017
dbSNP: rs121917918
rs121917918 		0.851 0.040 2 166058651 missense variant C/A;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 25 2003 2017