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: rs1057518900
rs1057518900
0.925 0.120 2 166284785 stop gained G/A snv 7.0E-06
Generalized Epilepsy With Febrile Seizures Plus, 7
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 1979 1979