Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
13 0.882 0.040 20 49374644 missense variant G/A snv 0.800 1.000 5 2014 2017
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.882 0.040 20 49374644 missense variant G/A snv 0.700 0
Myoclonic absences
CUI: C4023512
Disease: Myoclonic absences
2 0.882 0.040 20 49374644 missense variant G/A snv 0.700 0