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.
Early Infantile Epileptic Encephalopathy 6
CUI: C4551549
Disease: Early Infantile Epileptic Encephalopathy 6
392 0.851 0.040 2 165994212 missense variant G/A snv 0.700 1.000 20 2003 2017
Epilepsies, Partial
CUI: C0014547
Disease: Epilepsies, Partial
23 0.851 0.040 2 165994212 missense variant G/A snv 0.010 1.000 1 2015 2015
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.851 0.040 2 165994212 missense variant G/A snv 0.010 1.000 1 2015 2015
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.851 0.040 2 165994212 missense variant G/A snv 0.010 1.000 1 2015 2015