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: rs786205232
rs786205232 		0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		Nervous System Diseases 0.800 1.000 3 2015 2016
dbSNP: rs876657389
rs876657389 		1.000 0.040 1 110603569 missense variant G/A snv
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		Nervous System Diseases 0.800 1.000 2 2015 2015
dbSNP: rs876657390
rs876657390 		1.000 0.040 1 110603889 missense variant C/A snv
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		Nervous System Diseases 0.800 1.000 2 2015 2015
dbSNP: rs786205231
rs786205231 		1.000 0.040 1 110603995 missense variant A/G snv
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		Nervous System Diseases 0.800 0
dbSNP: rs786205232
rs786205232 		0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 28 1991 2017
dbSNP: rs786205232
rs786205232 		0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 1.000 28 1991 2017
dbSNP: rs886041761
rs886041761 		0.925 0.200 1 110603902 missense variant C/T snv
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 28 1991 2017
dbSNP: rs886041761
rs886041761 		0.925 0.200 1 110603902 missense variant C/T snv
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		Nervous System Diseases 0.700 1.000 2 2016 2017
dbSNP: rs763353895
rs763353895 		1.000 0.040 1 110604590 stop gained G/A snv 4.0E-06
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1064794738
rs1064794738 		1.000 0.040 1 110603588 missense variant C/T snv
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		Nervous System Diseases 0.700 0
dbSNP: rs1553181280
rs1553181280 		1.000 0.040 1 110603663 missense variant T/C snv
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		Nervous System Diseases 0.700 0
dbSNP: rs1553181282
rs1553181282 		1.000 0.040 1 110603665 missense variant G/A snv
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		Nervous System Diseases 0.700 0
dbSNP: rs1553181301
rs1553181301 		1.000 0.040 1 110603770 missense variant C/T snv
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		Nervous System Diseases 0.700 0
dbSNP: rs1553181323
rs1553181323 		1.000 0.040 1 110603824 missense variant G/A snv
CUI: C4225350
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 32 		Nervous System Diseases 0.700 0
dbSNP: rs786205232
rs786205232 		0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs786205232
rs786205232 		0.925 0.040 1 110603893 missense variant C/T snv 4.0E-06
CUI: C0040822
Disease: Tremor
Tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs886041761
rs886041761 		0.925 0.200 1 110603902 missense variant C/T snv
CUI: C0004134
Disease: Ataxia
Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs886041761
rs886041761 		0.925 0.200 1 110603902 missense variant C/T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs886041761
rs886041761 		0.925 0.200 1 110603902 missense variant C/T snv
CUI: C0034152
Disease: Henoch-Schoenlein Purpura
Henoch-Schoenlein Purpura 		Pathological Conditions, Signs and Symptoms; Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs886041761
rs886041761 		0.925 0.200 1 110603902 missense variant C/T snv
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016