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: rs142740233
rs142740233
0.925 0.080 20 46056217 missense variant G/A;T snv 3.3E-03; 4.0E-06
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014