Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 ×
Source: ALL
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: rs121918815
rs121918815 		1.000 0.080 2 165991679 missense variant C/A snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 2000 2011
dbSNP: rs140731963
rs140731963 		1.000 0.080 2 166012239 missense variant G/A snv 4.1E-04 2.6E-04
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 2000 2011
dbSNP: rs398123588
rs398123588 		0.827 0.080 2 166039436 missense variant C/T snv 8.0E-06
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 2000 2011
dbSNP: rs575368466
rs575368466 		1.000 0.080 2 165994211 missense variant C/T snv 4.0E-06
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 20 2000 2011
dbSNP: rs121917910
rs121917910 		1.000 0.080 2 166009797 missense variant T/A snv 6.1E-04 6.9E-04
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2005 2009
dbSNP: rs121918631
rs121918631 		0.882 0.080 2 166056450 stop gained A/G;T snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2005 2009
dbSNP: rs794729200
rs794729200 		0.925 0.080 2 165998070 missense variant T/C;G snv 4.0E-06
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2006 2010
dbSNP: rs138877187
rs138877187 		0.882 0.080 2 166045081 stop gained G/A;C;T snv 7.6E-05
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs786205214
rs786205214 		1.000 0.080 2 166041432 stop gained C/T snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs794729207
rs794729207 		0.925 0.080 2 166036518 frameshift variant GA/- delins
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2004 2004
dbSNP: rs1057521079
rs1057521079 		0.925 0.080 2 165992362 missense variant A/T snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1131691773
rs1131691773 		1.000 0.080 2 165991675 missense variant A/G snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121917964
rs121917964 		0.851 0.080 2 166073371 missense variant T/C snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121917976
rs121917976 		0.882 0.080 2 165992341 missense variant C/G;T snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121917984
rs121917984 		0.790 0.080 2 166052869 missense variant G/A;C snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121918624
rs121918624 		0.827 0.080 2 166052882 stop gained G/A snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121918629
rs121918629 		0.925 0.080 2 165992149 missense variant G/A snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121918630
rs121918630 		0.925 0.080 2 165994167 missense variant C/A snv 4.0E-06
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs121918775
rs121918775 		0.827 0.080 2 166037886 missense variant G/A;T snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs139300715
rs139300715 		0.882 0.080 2 165996047 stop gained G/A;C;T snv 2.0E-05
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553522266
rs1553522266 		1.000 0.080 2 165998033 splice region variant C/A snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1559104676
rs1559104676 		1.000 0.080 2 165992209 missense variant A/G snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1559128483
rs1559128483 		1.000 0.080 2 166002713 missense variant A/G snv
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs398123585
rs398123585 		0.851 0.080 2 166043875 stop gained G/A;T snv 4.0E-06
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs587780446
rs587780446 		1.000 0.080 2 165991478 frameshift variant G/- del
CUI: C1858673
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0