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: rs121918622
rs121918622 		0.790 0.080 2 165992332 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 0.800 1.000 20 2000 2011
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: 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: 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: 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: rs794726827
rs794726827 		0.827 0.120 2 166054637 splice donor variant C/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 0
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs886039456
rs886039456 		0.882 0.080 2 166052885 missense variant G/C snv 1.4E-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: 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: 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: 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