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.
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
58 0.882 0.080 2 165992306 missense variant G/A snv 7.0E-06 0.700 1.000 20 2000 2011
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.882 0.080 2 165992306 missense variant G/A snv 7.0E-06 0.020 1.000 2 2013 2018
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.882 0.080 2 165992306 missense variant G/A snv 7.0E-06 0.020 1.000 2 2013 2018