Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17183814
rs17183814
0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02
Generalized Epilepsy with Febrile Seizures Plus
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2002 2002