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: rs796052957
rs796052957 		0.925 0.040 2 166054735 missense variant A/G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs796052964
rs796052964 		1.000 0.040 2 166051841 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: rs796052973
rs796052973 		1.000 0.040 2 166046870 missense variant T/C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs796053089
rs796053089 		1.000 0.040 2 166058639 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 0
dbSNP: rs796053095
rs796053095 		1.000 0.040 2 166041292 missense variant A/C;G snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
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: rs886039430
rs886039430 		0.882 0.080 2 166044010 stop gained G/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs886039456
rs886039456 		0.882 0.080 2 166052885 missense variant G/C snv 1.4E-05
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 0
dbSNP: rs1057519530
rs1057519530 		1.000 0.040 2 166052864 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 1 2010 2010
dbSNP: rs1057519533
rs1057519533 		1.000 0.040 2 165994184 missense variant T/A snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 1 2010 2010
dbSNP: rs794726713
rs794726713 		1.000 0.040 2 166047721 missense variant T/A;C snv
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.800 1.000 1 2015 2015
dbSNP: rs121917957
rs121917957 		0.925 0.080 2 166047667 missense variant C/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 1 2015 2015
dbSNP: rs121917989
rs121917989 		1.000 0.040 2 166046882 missense variant A/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: 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: rs138877187
rs138877187 		0.882 0.080 2 166045081 stop gained G/A;C;T snv 7.6E-05
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs146878122
rs146878122 		1.000 0.040 2 166009822 missense variant G/A;C snv 1.6E-04
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
Early Infantile Epileptic Encephalopathy 6 		Nervous System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1553551314
rs1553551314 		1.000 0.040 2 166054638 inframe deletion GCAAATGTAATGACAGTGAAATCGAGCCAGTTCCATGGATCCCGAAGGAAAGTAAAATCTTCTAAACAGAATCCCCTTGCAATAATTTTTATAAGTGATTCAAAAGTATATATTCCTGTGAAGGTGTAT/- 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: rs1553552270
rs1553552270 		1.000 0.040 2 166056411 stop lost TCTACATTCTTTGTCCAATCAGGAGGGTTACTCATTGTCATAAACACACAGTTTGTCAAAATAGTGCACATAATTAGCATGCTGAATAAT/- 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: rs35595680
rs35595680 		1.000 0.040 2 166073437 frameshift variant G/-;GG 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: rs397514459
rs397514459 		1.000 0.040 2 166039428 stop gained G/A;C;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: rs542420576
rs542420576 		0.925 0.040 2 166036371 stop gained G/A;T snv 4.1E-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: rs727504142
rs727504142 		1.000 0.040 2 166052847 splice region 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: rs760361423
rs760361423 		1.000 0.040 2 166058645 missense variant C/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 1 2015 2015
dbSNP: rs764037830
rs764037830 		1.000 0.040 2 165994232 missense variant 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