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: rs104894743
rs104894743
0.807 0.200 X 25012937 missense variant G/A snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.800 1.000 3 2002 2017
dbSNP: rs387906492
rs387906492
0.882 0.160 X 25013660 inframe insertion CGCCGCCGCCGCCGCCGC/-;CGC;CGCCGC;CGCCGCCGC;CGCCGCCGCCGC;CGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC;CGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGC delins
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.700 1.000 8 2002 2015
dbSNP: rs398124510
rs398124510
0.882 0.160 X 25013531 inframe insertion GCGGCCGCGGCTGCCGCGGCGGCC/-;GCGGCCGCGGCTGCCGCGGCGGCCGCGGCCGCGGCTGCCGCGGCGGCC delins 6.8E-04
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.700 1.000 8 2002 2015
dbSNP: rs387906493
rs387906493
0.882 0.120 X 25013544 inframe insertion GGCCGCGGCTGCCGCGGCGGCCCC/-;GGCCGCGGCTGCCGCGGCGGCCCCGGCCGCGGCTGCCGCGGCGGCCCC delins
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.700 1.000 5 2006 2015
dbSNP: rs104894746
rs104894746
0.925 0.160 X 25010274 stop gained C/A;T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.700 0
dbSNP: rs1365611175
rs1365611175
1.000 0.040 X 25013654 inframe insertion CGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGC/-;CGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCGC delins 9.9E-06
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.700 0
dbSNP: rs1556054888
rs1556054888
1.000 0.040 X 25012956 missense variant A/C snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.700 0
dbSNP: rs1556056125
rs1556056125
1.000 0.040 X 25013533 inframe insertion -/GGCCGCGGCCGCGGCTGCCGCGGCGGC delins
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.700 0
dbSNP: rs1556056154
rs1556056154
0.925 0.080 X 25013536 inframe insertion -/GCCGCGGCCGCGGCTGCCGCGGCGGCCCCTGCG delins
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.700 0
dbSNP: rs387906715
rs387906715
1.000 0.040 X 25004755 missense variant A/T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.700 0
dbSNP: rs398122854
rs398122854
0.882 0.040 X 25015657 stop gained G/C snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.700 0
dbSNP: rs587783191
rs587783191
0.925 0.160 X 25004894 frameshift variant C/- delins
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.700 0
dbSNP: rs869312662
rs869312662
1.000 0.040 X 25012988 frameshift variant GTGAAC/TGGTACA delins
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.700 0
dbSNP: rs932485786
rs932485786
1.000 0.040 X 25015654 stop gained G/A;T snv
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
Nervous System Diseases 0.700 0