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: 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: rs121918801
rs121918801 		1.000 0.080 2 166009796 missense variant G/A snv 4.0E-06 7.0E-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: rs121918626
rs121918626 		0.925 0.080 2 166012179 missense variant T/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 0.800 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: rs121917930
rs121917930 		1.000 0.080 2 166013839 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 0.800 1.000 20 2000 2011
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: rs121917991
rs121917991 		1.000 0.080 2 166037805 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 1.000 20 2000 2011
dbSNP: rs121917971
rs121917971 		0.851 0.080 2 166037885 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 0.800 1.000 20 2000 2011
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: rs794726718
rs794726718 		0.851 0.080 2 166037930 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: rs121918623
rs121918623 		0.925 0.080 2 166038098 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 0.800 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: rs121918784
rs121918784 		0.925 0.080 2 166039437 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 1.000 20 2000 2011
dbSNP: rs121918782
rs121918782 		0.882 0.080 2 166041277 missense variant T/A;C snv 1.6E-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 20 2000 2011
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: rs794726730
rs794726730 		0.882 0.080 2 166042334 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: 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: rs886039430
rs886039430 		0.882 0.080 2 166044010 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: 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: rs121918781
rs121918781 		1.000 0.080 2 166047635 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 1.000 20 2000 2011
dbSNP: rs121917957
rs121917957 		0.925 0.080 2 166047667 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: rs779184118
rs779184118 		0.925 0.080 2 166048928 missense variant C/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: 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