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: 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: rs121917969
rs121917969 		0.925 0.040 2 166037891 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 23 2003 2017
dbSNP: rs121917907
rs121917907 		1.000 0.040 2 166073435 missense variant A/G snv 7.0E-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: rs121917908
rs121917908 		1.000 0.040 2 165999764 stop gained C/A;G;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: rs121917909
rs121917909 		1.000 0.040 2 166051967 missense variant G/A 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: rs121917911
rs121917911 		1.000 0.040 2 166013752 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 21 2003 2017
dbSNP: rs121917913
rs121917913 		1.000 0.040 2 166002491 missense variant T/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 21 2003 2017
dbSNP: rs121917914
rs121917914 		1.000 0.040 2 165992387 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 21 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: rs121917917
rs121917917 		1.000 0.040 2 166037852 missense variant C/A 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: rs121917920
rs121917920 		1.000 0.040 2 166047731 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 21 2003 2017
dbSNP: rs121917924
rs121917924 		1.000 0.040 2 165998106 missense variant C/A 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: rs121917925
rs121917925 		1.000 0.040 2 166002516 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 21 2003 2017
dbSNP: rs121917933
rs121917933 		1.000 0.040 2 166073388 missense variant C/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 21 2003 2017
dbSNP: rs121917934
rs121917934 		1.000 0.040 2 166054756 missense variant T/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: rs121917936
rs121917936 		1.000 0.040 2 166052896 missense variant G/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: rs121917939
rs121917939 		1.000 0.040 2 166047648 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 21 2003 2017
dbSNP: rs121917940
rs121917940 		1.000 0.040 2 166046871 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 21 2003 2017
dbSNP: rs121917941
rs121917941 		1.000 0.040 2 166039577 stop gained G/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: rs121917942
rs121917942 		1.000 0.040 2 166039476 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 21 2003 2017
dbSNP: rs121917943
rs121917943 		1.000 0.040 2 166037897 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: 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: rs121917946
rs121917946 		1.000 0.040 2 165998126 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: rs121917947
rs121917947 		1.000 0.040 2 165998090 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: rs121917948
rs121917948 		1.000 0.040 2 165992273 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 21 2003 2017