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: rs6746030
rs6746030
0.763 0.320 2 166242648 missense variant A/G snv 0.88 0.88
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs763256222
rs763256222
0.925 0.080 2 166288466 missense variant G/A snv 8.1E-06
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs770771659
rs770771659
0.925 0.080 2 166286614 missense variant C/T snv 9.4E-05 2.8E-05
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019