Disease: Epileptic encephalopathy ×
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: rs796053228
rs796053228 		0.882 0.160 12 51807100 missense variant C/G;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.720 1.000 2 2019 2020
dbSNP: rs1057519540
rs1057519540 		0.925 0.160 12 51768895 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs796053216
rs796053216 		0.851 0.160 12 51790401 stop gained G/A;T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs878853250
rs878853250 		0.752 0.360 12 51699663 stop gained T/A;C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs879255709
rs879255709 		0.925 0.160 12 51806434 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1392120633
rs1392120633 		1.000 0.040 12 51807223 missense variant C/T snv 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.020 1.000 2 2019 2020
dbSNP: rs202151337
rs202151337 		0.925 0.160 12 51806788 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.010 1.000 1 2015 2015