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: rs10174400
rs10174400 		1.000 0.040 2 165268709 non coding transcript exon variant C/T snv 0.38
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1057518658
rs1057518658 		1.000 0.040 2 165331409 frameshift variant AC/- del
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1057519010
rs1057519010 		1.000 2 165374775 frameshift variant GGAGTGAATCTCT/- del
CUI: C0683322
Disease: Mental impairment
Mental impairment 		0.700 0
dbSNP: rs1057519523
rs1057519523 		1.000 2 165373342 missense variant A/G snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1057519524
rs1057519524 		0.925 0.040 2 165386837 missense variant T/C snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519524
rs1057519524 		0.925 0.040 2 165386837 missense variant T/C snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1057519525
rs1057519525 		1.000 0.040 2 165308760 missense variant T/G snv
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		Nervous System Diseases 0.700 0
dbSNP: rs1057519526
rs1057519526 		0.925 0.040 2 165344679 missense variant C/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.800 0
dbSNP: rs1057519526
rs1057519526 		0.925 0.040 2 165344679 missense variant C/T snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519527
rs1057519527 		0.925 0.040 2 165374743 missense variant G/A snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1057519527
rs1057519527 		0.925 0.040 2 165374743 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519528
rs1057519528 		0.925 0.040 2 165310376 missense variant G/A snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519528
rs1057519528 		0.925 0.040 2 165310376 missense variant G/A snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1057520413
rs1057520413 		1.000 0.080 2 165310406 missense variant G/A snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057521223
rs1057521223 		1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057521223
rs1057521223 		1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1057521223
rs1057521223 		1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057521223
rs1057521223 		1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057521223
rs1057521223 		1.000 0.040 2 165373339 stop gained G/A;T snv
CUI: C3887506
Disease: Hyperkinesia
Hyperkinesia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1060503101
rs1060503101 		0.925 0.080 2 165388782 missense variant C/T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1060503101
rs1060503101 		0.925 0.080 2 165388782 missense variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1060503101
rs1060503101 		0.925 0.080 2 165388782 missense variant C/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs1060503102
rs1060503102 		0.925 0.080 2 165388682 stop gained C/T snv
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1060503102
rs1060503102 		0.925 0.080 2 165388682 stop gained C/T snv
CUI: C3150987
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11 		0.700 0
dbSNP: rs121917748
rs121917748 		0.882 0.120 2 165308751 missense variant C/T snv 2.0E-05
CUI: C1843140
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 3
SEIZURES, BENIGN FAMILIAL INFANTILE, 3 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.800 1.000 16 2001 2018