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: rs6432860
rs6432860
0.925 0.080 2 166041354 synonymous variant A/G;T snv 0.73; 4.0E-06
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1553553485
rs1553553485
1.000 0.080 2 166058626 stop gained G/C snv
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1559193213
rs1559193213
0.807 0.160 2 166036149 frameshift variant -/G delins
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs886039529
rs886039529
1.000 0.080 2 166036051 frameshift variant TT/- delins
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs3812718
rs3812718
0.776 0.240 2 166053034 splice region variant C/T snv 0.48
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.030 1.000 3 2010 2014
dbSNP: rs121918631
rs121918631
0.882 0.080 2 166056450 stop gained A/G;T snv
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs121918782
rs121918782
0.882 0.080 2 166041277 missense variant T/A;C snv 1.6E-05
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs556893466
rs556893466
1.000 0.080 2 165991477 missense variant C/A;T snv 2.0E-05; 8.0E-06
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs7587026
rs7587026
0.925 0.080 2 166122240 intron variant C/A snv 0.26
CUI: C0009952
Disease: Febrile Convulsions
Febrile Convulsions
Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2013 2013