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 0.882 0.080 2 165992333 missense variant G/A snv 0.800 1.000 24 2002 2017
Generalized Epilepsy with Febrile Seizures Plus
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
13 0.882 0.080 2 165992333 missense variant G/A snv 0.010 1.000 1 2004 2004
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.882 0.080 2 165992333 missense variant G/A snv 0.010 1.000 1 2010 2010