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
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
58 0.925 0.080 2 166012179 missense variant T/G snv 0.800 1.000 20 2000 2011
Generalized Epilepsy with Febrile Seizures Plus
CUI: C3502809
Disease: Generalized Epilepsy with Febrile Seizures Plus
13 0.925 0.080 2 166012179 missense variant T/G snv 0.010 1.000 1 2020 2020
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.925 0.080 2 166012179 missense variant T/G snv 0.010 1.000 1 2020 2020