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: rs1057519524
rs1057519524
0.925 0.040 2 165386837 missense variant T/C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs1057519526
rs1057519526
0.925 0.040 2 165344679 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs1057519527
rs1057519527
0.925 0.040 2 165374743 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs1057519528
rs1057519528
0.925 0.040 2 165310376 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs1553567473
rs1553567473
0.925 0.040 2 165309193 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs387906686
rs387906686
0.742 0.320 2 165310413 missense variant C/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs794727444
rs794727444
0.925 0.040 2 165389451 missense variant G/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs796053130
rs796053130
0.925 0.040 2 165373322 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs879253767
rs879253767
0.882 0.080 2 165313738 frameshift variant T/- delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.700 0
dbSNP: rs121917750
rs121917750
0.925 0.080 2 165386881 missense variant C/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs387906685
rs387906685
0.925 0.040 2 165380702 missense variant A/C;G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs796053134
rs796053134
0.827 0.080 2 165374737 missense variant T/C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs796053174
rs796053174
1.000 0.040 2 165310515 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
Nervous System Diseases 0.010 1.000 1 2016 2016