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: rs121918742
rs121918742 		1.000 0.040 2 165994241 missense variant C/G;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: rs121918770
rs121918770 		1.000 0.040 2 166054710 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 22 2003 2017
dbSNP: rs121918773
rs121918773 		1.000 0.040 2 166054672 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 22 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: rs121917929
rs121917929 		0.925 0.160 2 166046970 missense variant G/A;T 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: rs121917935
rs121917935 		0.851 0.040 2 166054660 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 21 2003 2017
dbSNP: rs121917959
rs121917959 		1.000 0.040 2 166058599 missense variant C/A;G;T snv 4.0E-06
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 21 2003 2017
dbSNP: rs121917964
rs121917964 		0.851 0.080 2 166073371 missense variant T/C 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: rs121917984
rs121917984 		0.790 0.080 2 166052869 missense variant G/A;C 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: rs121918625
rs121918625 		0.925 0.040 2 166036521 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 21 2003 2017
dbSNP: rs121918734
rs121918734 		1.000 0.040 2 166058681 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 21 2003 2017
dbSNP: rs121918768
rs121918768 		1.000 0.040 2 166046931 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: rs121918785
rs121918785 		1.000 0.040 2 166039427 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 21 2003 2017
dbSNP: rs121917945
rs121917945 		1.000 0.040 2 165998162 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: 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: 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: rs121918630
rs121918630 		0.925 0.080 2 165994167 missense variant C/A snv 4.0E-06
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 6 2003 2013
dbSNP: rs794726711
rs794726711 		0.925 0.040 2 166058616 missense variant G/T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 2 2010 2015
dbSNP: rs794726755
rs794726755 		1.000 0.040 2 166051955 missense variant G/T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 2 2010 2015
dbSNP: rs794726782
rs794726782 		1.000 0.040 2 166047764 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 2 2010 2015
dbSNP: rs794726789
rs794726789 		1.000 0.040 2 166002740 stop gained G/A;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 2 2010 2015
dbSNP: rs794726797
rs794726797 		1.000 0.040 2 166048889 missense variant G/A;T snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 2 2010 2015
dbSNP: rs794726811
rs794726811 		1.000 0.040 2 166037942 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 2 2010 2015
dbSNP: rs794726839
rs794726839 		1.000 0.040 2 165992290 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 2 2010 2015