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: rs794726737
rs794726737 		1.000 0.040 2 165991495 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 1 2015 2015
dbSNP: rs121917981
rs121917981 		0.925 0.040 2 165991510 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 20 2003 2017
dbSNP: rs121918793
rs121918793 		0.882 0.040 2 165991549 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 20 2003 2017
dbSNP: rs794726739
rs794726739 		0.925 0.080 2 165991601 stop gained G/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: rs794726845
rs794726845 		1.000 0.040 2 165991613 stop gained G/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: rs779614747
rs779614747 		1.000 0.040 2 165991619 stop gained G/A;T snv 8.0E-06
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 4 2006 2015
dbSNP: rs121918804
rs121918804 		1.000 0.040 2 165991632 missense variant C/G;T snv 8.0E-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: rs201905405
rs201905405 		1.000 0.040 2 165991636 missense variant C/T snv 7.2E-05 1.1E-04
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 20 2003 2017
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: rs121918783
rs121918783 		0.925 0.080 2 165991720 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 1 2015 2015
dbSNP: rs794726726
rs794726726 		1.000 0.040 2 165991736 frameshift variant TTTG/- 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: rs372098964
rs372098964 		1.000 0.040 2 165991739 stop gained T/A;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 1 2015 2015
dbSNP: rs794726801
rs794726801 		1.000 0.040 2 165991760 missense variant G/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: rs121918748
rs121918748 		1.000 0.040 2 165991783 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: rs794726769
rs794726769 		1.000 0.040 2 165991805 stop gained C/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: rs794726781
rs794726781 		1.000 0.040 2 165991814 stop gained G/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: rs863225037
rs863225037 		1.000 0.040 2 165991839 stop gained C/G;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 2 2007 2012
dbSNP: rs121918751
rs121918751 		1.000 0.040 2 165991841 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 20 2003 2017
dbSNP: rs121918757
rs121918757 		1.000 0.040 2 165991853 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 5 2003 2013
dbSNP: rs794726780
rs794726780 		1.000 0.040 2 165991871 stop gained C/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: rs1381184010
rs1381184010 		1.000 0.040 2 165991911 missense variant G/A;T snv 4.0E-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: 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: 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: 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: rs121917921
rs121917921 		0.882 0.040 2 165991927 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 22 2003 2017