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: rs1060501487
rs1060501487 		1.000 0.040 22 31819199 frameshift variant G/- delins
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 0
dbSNP: rs1315483224
rs1315483224 		1.000 0.040 22 31766651 stop gained C/T snv 2.4E-05 1.4E-05
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 0
dbSNP: rs1372605067
rs1372605067 		22 31821593 frameshift variant CT/- delins 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555882867
rs1555882867 		1.000 0.040 22 31810520 splice acceptor variant G/C snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 0
dbSNP: rs1555882921
rs1555882921 		1.000 0.040 22 31810580 frameshift variant AT/- delins
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 0
dbSNP: rs1555900914
rs1555900914 		1.000 0.040 22 31845104 frameshift variant ACTGCGACATCTATGGGGACAGGCCC/- delins
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 0
dbSNP: rs1556607762
rs1556607762 		1.000 0.040 22 31797704 splice donor variant G/T snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 0
dbSNP: rs1568955379
rs1568955379 		1.000 0.040 22 31804211 frameshift variant C/- delins
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 0
dbSNP: rs1568963062
rs1568963062 		1.000 0.040 22 31806179 frameshift variant CAGG/- delins
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 0
dbSNP: rs1568991466
rs1568991466 		1.000 0.040 22 31814999 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 0
dbSNP: rs1569012755
rs1569012755 		1.000 0.040 22 31821566 frameshift variant -/A delins
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 0
dbSNP: rs1569067939
rs1569067939 		1.000 0.040 22 31838842 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 0
dbSNP: rs1569083500
rs1569083500 		1.000 0.040 22 31843705 frameshift variant CTCAGAGTTC/GGACA delins
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 0
dbSNP: rs1569166925
rs1569166925 		1.000 0.040 22 31873316 frameshift variant G/- del
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 0
dbSNP: rs1569186093
rs1569186093 		1.000 0.040 22 31879587 stop gained C/T snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 0
dbSNP: rs1569232705
rs1569232705 		22 31897565 stop gained C/G snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1569523728
rs1569523728 		1.000 0.040 22 31797616 frameshift variant GA/- delins
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 0
dbSNP: rs374158137
rs374158137 		1.000 0.040 22 31837126 stop gained T/A;C snv 2.4E-05 9.1E-05
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 0
dbSNP: rs587776975
rs587776975 		0.925 0.040 22 31893655 stop gained 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 0
dbSNP: rs757609394
rs757609394 		1.000 0.040 22 31857483 missense variant A/G snv 3.3E-05
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 0
dbSNP: rs759952667
rs759952667 		1.000 0.040 22 31797697 stop gained C/A;T snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 0
dbSNP: rs768456731
rs768456731 		0.925 0.040 22 31765049 missense variant G/A;T snv 1.6E-05
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 0
dbSNP: rs772872014
rs772872014 		0.925 0.040 22 31792777 stop gained C/T snv
CUI: C1858477
Disease: Epilepsy, Partial, with Variable Foci
Epilepsy, Partial, with Variable Foci 		Nervous System Diseases 0.700 0
dbSNP: rs886039248
rs886039248 		1.000 0.040 22 31778139 frameshift variant AT/- del
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 0
dbSNP: rs886039260
rs886039260 		1.000 0.040 22 31810589 stop gained C/G;T snv 8.0E-06
CUI: C4551983
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 1 		Nervous System Diseases 0.700 0