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 166041277 missense variant T/A;C snv 1.6E-05 0.700 1.000 20 2000 2011
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.882 0.080 2 166041277 missense variant T/A;C snv 1.6E-05 0.010 1.000 1 2019 2019
Febrile Convulsions
CUI: C0009952
Disease: Febrile Convulsions
65 0.882 0.080 2 166041277 missense variant T/A;C snv 1.6E-05 0.010 1.000 1 2019 2019