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: rs121917980
rs121917980 		1.000 0.040 2 165991928 missense variant C/T 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: rs121918763
rs121918763 		1.000 0.040 2 165991929 missense variant G/A;C snv 2.8E-05
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 22 2003 2017
dbSNP: rs121918779
rs121918779 		1.000 0.040 2 165991933 missense variant T/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 24 2003 2017
dbSNP: rs121917952
rs121917952 		1.000 0.040 2 165991936 missense variant A/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: rs794726783
rs794726783 		1.000 0.040 2 165991941 frameshift variant C/- del
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs121917951
rs121917951 		0.925 0.040 2 165991957 missense variant G/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: rs794726832
rs794726832 		1.000 0.040 2 165991977 frameshift variant 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: 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: rs121917950
rs121917950 		1.000 0.040 2 165991990 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: rs121918809
rs121918809 		0.925 0.040 2 165992009 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: rs794726722
rs794726722 		1.000 0.040 2 165992011 missense variant T/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726703
rs794726703 		1.000 0.040 2 165992023 inframe deletion GAG/- del
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: rs121918798
rs121918798 		1.000 0.040 2 165992029 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: rs794726763
rs794726763 		0.925 0.040 2 165992053 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 1 2015 2015
dbSNP: rs121917979
rs121917979 		1.000 0.040 2 165992099 missense variant A/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: rs121917978
rs121917978 		1.000 0.040 2 165992113 missense variant G/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: rs121917926
rs121917926 		1.000 0.040 2 165992129 missense variant A/G 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: rs121917949
rs121917949 		1.000 0.040 2 165992134 missense variant A/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: rs121918816
rs121918816 		1.000 0.040 2 165992137 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: rs121918629
rs121918629 		0.925 0.080 2 165992149 missense variant G/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 6 2003 2013
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
dbSNP: rs794726802
rs794726802 		1.000 0.040 2 165992167 missense variant T/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs794726804
rs794726804 		1.000 0.040 2 165992169 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 1 2015 2015
dbSNP: rs794726748
rs794726748 		1.000 0.040 2 165992193 stop gained A/C;G snv 4.0E-06
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015