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: rs1057524089
rs1057524089 		1.000 16 9938479 stop gained 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 0
dbSNP: rs1060503228
rs1060503228 		1.000 16 9834148 stop gained 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 		0.700 0
dbSNP: rs1064795143
rs1064795143 		1.000 16 9798269 splice donor variant GGTCTTACCATCACCCACA/- del
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 0
dbSNP: rs1445802934
rs1445802934 		1.000 16 9822363 missense variant G/A 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 0
dbSNP: rs1555483699
rs1555483699 		0.851 0.120 16 9768994 missense variant C/T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1555483699
rs1555483699 		0.851 0.120 16 9768994 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555483699
rs1555483699 		0.851 0.120 16 9768994 missense variant C/T snv
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555483699
rs1555483699 		0.851 0.120 16 9768994 missense variant C/T snv
CUI: C2243051
Disease: Large head (disorder)
Large head (disorder) 		0.700 0
dbSNP: rs1555483699
rs1555483699 		0.851 0.120 16 9768994 missense variant C/T snv
CUI: C0426870
Disease: Large hand
Large hand 		0.700 0
dbSNP: rs1555483699
rs1555483699 		0.851 0.120 16 9768994 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 0
dbSNP: rs1555483699
rs1555483699 		0.851 0.120 16 9768994 missense variant C/T snv
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1555483699
rs1555483699 		0.851 0.120 16 9768994 missense variant C/T snv
CUI: C1854882
Disease: Absent speech
Absent speech 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1555483699
rs1555483699 		0.851 0.120 16 9768994 missense variant C/T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1555483699
rs1555483699 		0.851 0.120 16 9768994 missense variant C/T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs1555492758
rs1555492758 		1.000 16 9829494 missense variant T/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 		0.700 0
dbSNP: rs1555492769
rs1555492769 		1.000 16 9829529 stop gained 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 0
dbSNP: rs1555493585
rs1555493585 		1.000 16 9834209 stop gained C/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 		0.700 0
dbSNP: rs387906637
rs387906637 		1.000 16 9938314 stop gained 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 0
dbSNP: rs397518466
rs397518466 		1.000 16 10180410 start lost 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 0
dbSNP: rs397518467
rs397518467 		1.000 16 9764715 stop gained 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 		0.700 0
dbSNP: rs397518469
rs397518469 		1.000 16 9849963 splice acceptor variant T/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 		0.700 0
dbSNP: rs397518472
rs397518472 		1.000 16 9822391 stop gained 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 0
dbSNP: rs751455326
rs751455326 		1.000 16 9768993 missense variant G/A;T snv 4.0E-06
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs751455326
rs751455326 		1.000 16 9768993 missense variant G/A;T 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 0
dbSNP: rs761168789
rs761168789 		1.000 16 9891000 missense variant G/A 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 0