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: rs121917748
rs121917748
0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05
CUI: C0863106
Disease: Afebrile seizure
Afebrile seizure
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2002 2002