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: rs397518447
rs397518447 		0.925 0.040 16 9829585 missense variant G/T snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 1.000 13 2010 2017
dbSNP: rs397518470
rs397518470 		1.000 16 9840745 missense variant C/A;T snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 1.000 13 2010 2017
dbSNP: rs762659685
rs762659685 		1.000 16 9822286 missense variant C/T snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 1.000 13 2010 2017
dbSNP: rs1250662891
rs1250662891 		0.925 0.040 16 10180176 missense variant G/C snv 4.0E-06
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 12 2010 2017
dbSNP: rs1360906241
rs1360906241 		1.000 16 9840788 missense variant G/A snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 12 2010 2017
dbSNP: rs1555482933
rs1555482933 		0.925 0.040 16 9764834 missense variant T/A snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 12 2010 2017
dbSNP: rs1555488144
rs1555488144 		0.925 0.040 16 9798454 missense variant C/T snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 12 2010 2017
dbSNP: rs1555491648
rs1555491648 		0.925 0.040 16 9822337 missense variant G/A snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 12 2010 2017
dbSNP: rs1555496111
rs1555496111 		0.925 0.040 16 9849778 missense variant A/G snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 12 2010 2017
dbSNP: rs397514557
rs397514557 		1.000 16 9829485 missense variant G/C snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 1.000 12 2010 2017
dbSNP: rs397518450
rs397518450 		1.000 16 9834227 missense variant G/C snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 1.000 12 2010 2017
dbSNP: rs397518468
rs397518468 		1.000 16 9840706 missense variant G/A snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 12 2010 2017
dbSNP: rs397518471
rs397518471 		1.000 16 9829476 missense variant A/C snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.800 1.000 12 2010 2017
dbSNP: rs886039239
rs886039239 		1.000 16 9764617 missense variant T/C snv 8.0E-06
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 12 2010 2017
dbSNP: rs933322445
rs933322445 		1.000 16 9764747 missense variant C/T snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 12 2010 2017
dbSNP: rs397518465
rs397518465 		0.925 0.040 16 9937958 splice donor variant C/A;T snv
CUI: C3806402
Disease: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION 		0.700 1.000 4 2013 2017
dbSNP: rs9922678
rs9922678 		1.000 0.040 16 9852462 intron variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.700 1.000 4 2014 2019
dbSNP: rs1238779318
rs1238779318 		1.000 0.040 16 9938274 missense variant C/G;T snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1250662891
rs1250662891 		0.925 0.040 16 10180176 missense variant G/C snv 4.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1345423
rs1345423 		1.000 0.080 16 10154207 intron variant G/A;C;T snv
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1439688451
rs1439688451 		1.000 0.040 16 9798433 missense variant C/G;T snv 4.0E-06
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555482933
rs1555482933 		0.925 0.040 16 9764834 missense variant T/A snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555488144
rs1555488144 		0.925 0.040 16 9798454 missense variant C/T snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555491648
rs1555491648 		0.925 0.040 16 9822337 missense variant G/A snv
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1555494676
rs1555494676 		1.000 0.040 16 9840657 inframe deletion AAG/- delins
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		Nervous System Diseases 0.700 1.000 1 2018 2018