Disease: Generalized Epilepsy With Febrile Seizures Plus, 7 ×
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: rs121908919
rs121908919 		1.000 0.080 2 166281786 missense variant T/C snv 2.0E-03 1.8E-03
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.800 1.000 1 2009 2009
dbSNP: rs121908913
rs121908913 		0.882 0.120 2 166228969 missense variant C/A snv
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2006 2011
dbSNP: rs1295192882
rs1295192882 		0.925 0.120 2 166288436 splice donor variant C/A snv 4.0E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs1553491169
rs1553491169 		0.925 0.120 2 166288553 missense variant C/T snv
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2009 2012
dbSNP: rs187558439
rs187558439 		0.882 0.120 2 166204368 stop gained G/A;T snv 8.0E-06; 6.0E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs746241591
rs746241591 		0.925 0.120 2 166204359 splice donor variant C/A;T snv 8.0E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs755067851
rs755067851 		0.925 0.120 2 166311498 splice donor variant C/T snv 4.3E-06 7.0E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs773824421
rs773824421 		0.925 0.120 2 166294664 splice acceptor variant T/G snv 4.6E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs1057518900
rs1057518900 		0.925 0.120 2 166284785 stop gained G/A snv 7.0E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 1979 1979
dbSNP: rs121908910
rs121908910 		0.882 0.120 2 166272731 missense variant G/A;C snv 1.8E-05; 4.4E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2006 2006
dbSNP: rs121908918
rs121908918 		1.000 0.080 2 166284506 missense variant T/A snv 2.4E-05 3.5E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs121908920
rs121908920 		1.000 0.080 2 166311573 missense variant T/C snv 2.8E-05 4.2E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs121908921
rs121908921 		0.925 0.080 2 166306531 missense variant G/A;T snv 1.5E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2009 2009
dbSNP: rs1553473041
rs1553473041 		0.925 0.120 2 166199288 frameshift variant T/- del
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs200070962
rs200070962 		0.882 0.120 2 166203996 stop gained C/T snv 4.1E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs779327684
rs779327684 		0.925 0.120 2 166280590 frameshift variant -/A delins 5.6E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs1057518162
rs1057518162 		0.925 0.120 2 166280559 stop gained C/T snv
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1060502047
rs1060502047 		0.925 0.120 2 166198763 missense variant T/G snv
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1411870484
rs1411870484 		0.925 0.120 2 166284523 stop gained G/A;C snv 1.4E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553488759
rs1553488759 		0.925 0.120 2 166280376 stop gained -/TTTGAATTCCTCAGTCATT delins
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1559027674
rs1559027674 		0.925 0.120 2 166303231 frameshift variant CA/- delins
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs377543079
rs377543079 		0.925 0.120 2 166304286 stop gained G/A snv 6.8E-05 2.1E-05
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs753900410
rs753900410 		0.925 0.120 2 166277280 frameshift variant A/- delins 4.0E-06 7.0E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs766212849
rs766212849 		0.882 0.120 2 166278199 frameshift variant CTTAA/- delins
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs769971743
rs769971743 		0.925 0.120 2 166278233 stop gained C/T snv 4.0E-06
CUI: C2751778
Disease: Generalized Epilepsy With Febrile Seizures Plus, 7
Generalized Epilepsy With Febrile Seizures Plus, 7 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0