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: rs3769955
rs3769955
1.000 0.080 2 165378122 intron variant C/T snv 0.42
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs121917748
rs121917748
0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs16850331
rs16850331
0.925 0.080 2 165292743 intron variant C/T snv 0.23
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs17183814
rs17183814
0.827 0.120 2 165295879 splice acceptor variant G/A snv 8.4E-02 6.2E-02
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs3943809
rs3943809
0.925 0.080 2 165344371 intron variant A/G snv 0.20
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2010 2010