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: rs1569254004
rs1569254004 		1.000 0.040 22 31906047 frameshift variant -/CA delins
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 3 2013 2015
dbSNP: rs541024038
rs541024038 		0.925 0.040 22 31843106 stop gained C/G;T snv 4.0E-06
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 3 2013 2016
dbSNP: rs587776973
rs587776973 		0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 3 2013 2015
dbSNP: rs587776973
rs587776973 		0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 3 2013 2017
dbSNP: rs1060501488
rs1060501488 		1.000 0.040 22 31778119 stop gained G/A snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2013 2016
dbSNP: rs1261611694
rs1261611694 		1.000 0.040 22 31873333 splice donor variant G/A;C snv 8.0E-06; 4.0E-06
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2013
dbSNP: rs1555885023
rs1555885023 		1.000 0.040 22 31814991 splice acceptor variant G/T snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2013 2013
dbSNP: rs1556526609
rs1556526609 		1.000 0.040 22 31766584 splice acceptor variant G/A snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2013
dbSNP: rs587776973
rs587776973 		0.925 0.040 22 31815209 stop gained C/G;T snv 4.0E-06
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2015
dbSNP: rs587776975
rs587776975 		0.925 0.040 22 31893655 stop gained G/A snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs587776976
rs587776976 		1.000 0.040 22 31792765 stop gained C/T snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2015
dbSNP: rs587777459
rs587777459 		0.882 0.040 22 31815005 stop gained C/G;T snv 2.0E-05
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs587777459
rs587777459 		0.882 0.040 22 31815005 stop gained C/G;T snv 2.0E-05
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs757511744
rs757511744 		1.000 0.040 22 31806168 stop gained C/G;T snv 4.0E-06
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs772872014
rs772872014 		0.925 0.040 22 31792777 stop gained C/T snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2014 2016
dbSNP: rs786205703
rs786205703 		0.925 0.040 22 31778103 stop gained C/T snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2014 2017
dbSNP: rs886039245
rs886039245 		1.000 0.040 22 31760703 splice donor variant G/A snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2015
dbSNP: rs886039246
rs886039246 		1.000 0.040 22 31765061 splice donor variant G/A snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2013 2014
dbSNP: rs886039256
rs886039256 		0.925 0.040 22 31798628 stop gained C/G snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2015 2015
dbSNP: rs886039269
rs886039269 		0.925 0.040 22 31879713 stop gained C/T snv
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 1.000 2 2016 2016
dbSNP: rs886039269
rs886039269 		0.925 0.040 22 31879713 stop gained C/T snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 1.000 2 2016 2016
dbSNP: rs136867
rs136867 		1.000 0.080 22 31876672 intron variant G/A;C;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555897392
rs1555897392 		1.000 0.040 22 31838822 protein altering variant -/AGA ins
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs187334123
rs187334123 		1.000 0.040 22 31797646 missense variant G/A;T snv 2.2E-03; 1.6E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs527479125
rs527479125 		1.000 22 31845200 missense variant G/A;T snv 8.0E-06
CUI: C1504404
Disease: Hippocampal sclerosis
Hippocampal sclerosis 		0.010 1.000 1 2019 2019