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: rs1057518667
rs1057518667 		1.000 0.160 12 51789402 missense variant A/G snv
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519540
rs1057519540 		0.925 0.160 12 51768895 missense variant A/G snv
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519540
rs1057519540 		0.925 0.160 12 51768895 missense variant A/G snv
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs1057519557
rs1057519557 		1.000 0.160 12 51699783 missense variant A/G snv
CUI: C3281191
Disease: SCN8A-related epilepsy with encephalopathy
SCN8A-related epilepsy with encephalopathy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C0022575
Disease: Keratoconjunctivitis Sicca
Keratoconjunctivitis Sicca 		Eye Diseases 0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		Mental Disorders 0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C0034935
Disease: Babinski Reflex
Babinski Reflex 		0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C4021219
Disease: Multifocal epileptiform discharges
Multifocal epileptiform discharges 		0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C3161330
Disease: Profound intellectual disabilities
Profound intellectual disabilities 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C1853743
Disease: Muscular hypotonia of the trunk
Muscular hypotonia of the trunk 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C1846176
Disease: Hyperactive deep tendon reflexes
Hyperactive deep tendon reflexes 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C1848980
Disease: Developmental stagnation
Developmental stagnation 		0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C1845251
Disease: Facial hypotonia
Facial hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C1849089
Disease: Broad forehead
Broad forehead 		0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C0042024
Disease: Urinary Incontinence
Urinary Incontinence 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		Nervous System Diseases 0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C4023687
Disease: EEG with multifocal slow activity
EEG with multifocal slow activity 		0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C3278975
Disease: Attenuation of retinal blood vessels
Attenuation of retinal blood vessels 		0.700 0
dbSNP: rs1057524820
rs1057524820 		0.776 0.280 12 51765746 missense variant G/A;T snv
CUI: C0015732
Disease: Fecal Incontinence
Fecal Incontinence 		Digestive System Diseases 0.700 0