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: rs1553920374
rs1553920374 		1.000 4 101032267 missense variant C/T snv
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 1.000 2 2017 2018
dbSNP: rs1553923787
rs1553923787 		1.000 4 101083202 missense variant C/T snv
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 1.000 2 2017 2018
dbSNP: rs1553925558
rs1553925558 		1.000 4 101109063 missense variant T/C snv
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.800 1.000 2 2017 2018
dbSNP: rs1553923787
rs1553923787 		1.000 4 101083202 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 13 1987 2017
dbSNP: rs1031034
rs1031034 		1.000 0.040 4 101302229 intron variant C/A snv 0.29
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2583410
rs2583410 		4 101261042 intron variant A/C snv 0.19
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs1553920376
rs1553920376 		1.000 4 101032273 stop gained G/A snv
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0038273
Disease: Stereotypic Movement Disorder
Stereotypic Movement Disorder 		Mental Disorders 0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0494475
Disease: Tonic - clonic seizures
Tonic - clonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0023015
Disease: Language Disorders
Language Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C1837522
Disease: Impaired pain sensation
Impaired pain sensation 		0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination 		0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0043094
Disease: Weight Gain
Weight Gain 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C4540199
Disease: EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1
EPILEPTIC ENCEPHALOPATHY, INFANTILE OR EARLY CHILDHOOD, 1 		0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C4021759
Disease: Generalized myoclonic seizures
Generalized myoclonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0234533
Disease: Generalized seizures
Generalized seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0013528
Disease: Echolalia
Echolalia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C1836508
Disease: Generalized tonic seizures
Generalized tonic seizures 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0520966
Disease: Abnormal coordination
Abnormal coordination 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		0.700 0
dbSNP: rs1553920379
rs1553920379 		0.776 0.160 4 101032294 frameshift variant -/AGTA delins
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0