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: 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: 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: 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: 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: rs121918817
rs121918817 		0.882 0.040 2 166045080 missense variant C/T snv 1.7E-03 1.5E-03
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1553525325
rs1553525325 		0.807 0.120 2 166002716 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: rs1553543215
rs1553543215 		0.925 0.040 2 166041295 frameshift variant AA/- delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1553544470
rs1553544470 		1.000 0.040 2 166043689 frameshift variant CTAT/- delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1553551493
rs1553551493 		1.000 0.040 2 166054747 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: rs1553553462
rs1553553462 		1.000 0.040 2 166058615 missense variant G/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1559149128
rs1559149128 		0.925 0.040 2 166013838 stop gained C/T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs368609628
rs368609628 		1.000 0.040 2 166015661 stop gained G/A;T snv 2.0E-05; 4.0E-06 7.0E-06
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs397514458
rs397514458 		1.000 0.040 2 165992269 missense variant G/T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs566081370
rs566081370 		1.000 0.040 2 166013811 missense variant C/T snv 2.0E-05
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs745378416
rs745378416 		1.000 0.040 2 166038036 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs758871507
rs758871507 		1.000 0.040 2 166073419 missense variant A/C;G snv 8.0E-06
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs779184118
rs779184118 		0.925 0.080 2 166048928 missense variant C/A;T snv 4.0E-06
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs794729200
rs794729200 		0.925 0.080 2 165998070 missense variant T/C;G snv 4.0E-06
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs794729207
rs794729207 		0.925 0.080 2 166036518 frameshift variant GA/- delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0