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: rs794726820
rs794726820 		1.000 0.040 2 166041327 frameshift variant -/A ins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs863225038
rs863225038 		1.000 0.040 2 166048921 frameshift variant -/A delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2006 2006
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: rs794726814
rs794726814 		1.000 0.040 2 165991983 frameshift variant -/AATTCCAA delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726819
rs794726819 		1.000 0.040 2 165992278 frameshift variant -/ACAT delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726741
rs794726741 		1.000 0.040 2 165991922 frameshift variant -/ACCG delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726701
rs794726701 		1.000 0.040 2 165992391 stop gained -/ACTTT delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726723
rs794726723 		1.000 0.040 2 166009749 frameshift variant -/AG delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726846
rs794726846 		1.000 0.040 2 166051751 frameshift variant -/CA delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726850
rs794726850 		1.000 0.040 2 165994167 frameshift variant -/CA delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726702
rs794726702 		1.000 0.040 2 165992024 frameshift variant -/CC ins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726717
rs794726717 		1.000 0.040 2 166045044 frameshift variant -/G delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726750
rs794726750 		1.000 0.040 2 166041343 frameshift variant -/GGTC delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726777
rs794726777 		1.000 0.040 2 166046964 frameshift variant -/T ins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726706
rs794726706 		1.000 0.040 2 166012261 frameshift variant -/TA delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726812
rs794726812 		1.000 0.040 2 166051857 frameshift variant -/TATAC ins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726757
rs794726757 		1.000 0.040 2 165994352 stop gained -/TCATGATGCTTATGTCAAAAACTTGTCTGGTTACG delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726704
rs794726704 		1.000 0.040 2 166044045 frameshift variant A/- delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726810
rs794726810 		1.000 0.040 2 166046846 frameshift variant A/- delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs869312670
rs869312670 		0.925 0.160 2 166013745 frameshift variant A/- del
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs794726695
rs794726695 		0.925 0.040 2 166047679 frameshift variant A/-;AA delins
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121917937
rs121917937 		0.925 0.040 2 166052866 missense variant A/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 22 2003 2017
dbSNP: rs121918737
rs121918737 		1.000 0.040 2 166037868 missense variant A/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 22 2003 2017
dbSNP: rs121917944
rs121917944 		1.000 0.040 2 166002479 missense variant A/C 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: rs121917977
rs121917977 		1.000 0.040 2 165992156 missense variant A/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 21 2003 2017