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 0.080 2 166037885 missense variant C/G;T snv 0.800 1.000 31 2003 2017
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
58 0.851 0.080 2 166037885 missense variant C/G;T snv 0.800 1.000 20 2000 2011
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
CUI: C1839333
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 2
43 0.851 0.080 2 166037885 missense variant C/G;T snv 0.010 1.000 1 2011 2011
Infantile Severe Myoclonic Epilepsy
CUI: C0751122
Disease: Infantile Severe Myoclonic Epilepsy
32 0.851 0.080 2 166037885 missense variant C/G;T snv 0.010 1.000 1 2011 2011