Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 ×
Source: CURATED ×
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: 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: rs121917931
rs121917931 		1.000 0.080 2 166073402 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: rs121917932
rs121917932 		1.000 0.080 2 165992215 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: rs121917953
rs121917953 		0.851 0.080 2 166054677 missense variant T/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 0.800 1.000 20 2000 2011
dbSNP: rs121917954
rs121917954 		0.925 0.080 2 166002699 missense variant C/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: rs121917955
rs121917955 		0.925 0.080 2 165992307 missense variant G/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 0.800 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: 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: 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: 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: rs121918627
rs121918627 		1.000 0.080 2 166002473 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: rs121918744
rs121918744 		0.882 0.080 2 165992221 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 1.000 20 2000 2011
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: rs121918783
rs121918783 		0.925 0.080 2 165991720 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: 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: rs121918811
rs121918811 		0.882 0.080 2 165992306 missense variant G/A snv 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: rs121918812
rs121918812 		1.000 0.080 2 165992050 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: rs121918813
rs121918813 		1.000 0.080 2 165991892 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 1.000 20 2000 2011
dbSNP: rs121918814
rs121918814 		1.000 0.080 2 165991706 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: 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: 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: 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