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: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C1866129
Disease: Abnormality of the cerebellum
Abnormality of the cerebellum 		Nervous System Diseases 0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		Mental Disorders 0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0038379
Disease: Strabismus
Strabismus 		Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C4023681
Disease: Delayed fine motor development
Delayed fine motor development 		0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C4021765
Disease: Morphological abnormality of the central nervous system
Morphological abnormality of the central nervous system 		0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0266470
Disease: Cerebellar Hypoplasia
Cerebellar Hypoplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		0.700 0
dbSNP: rs1057519429
rs1057519429 		0.807 0.240 19 13235666 missense variant C/G;T snv
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		0.700 0
dbSNP: rs1057520918
rs1057520918 		0.790 0.160 19 13262780 missense variant C/T snv
CUI: C1720416
Disease: Episodic ataxia type 2 (disorder)
Episodic ataxia type 2 (disorder) 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1057520918
rs1057520918 		0.790 0.160 19 13262780 missense variant C/T snv
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs1057520918
rs1057520918 		0.790 0.160 19 13262780 missense variant C/T snv
CUI: C4021085
Disease: Abnormality of brain morphology
Abnormality of brain morphology 		0.700 0
dbSNP: rs1057520918
rs1057520918 		0.790 0.160 19 13262780 missense variant C/T snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 0
dbSNP: rs1057520918
rs1057520918 		0.790 0.160 19 13262780 missense variant C/T snv
CUI: C1832884
Disease: Hemiplegic migraine, familial type 1
Hemiplegic migraine, familial type 1 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1064794261
rs1064794261 		1.000 19 13231717 missense variant G/A snv
CUI: C4310716
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 42 		0.700 0
dbSNP: rs1064794262
rs1064794262 		0.925 0.040 19 13303831 frameshift variant CT/- del
CUI: C3806482
Disease: Recurrent respiratory infections
Recurrent respiratory infections 		Infections; Respiratory Tract Diseases 0.700 0
dbSNP: rs1064794262
rs1064794262 		0.925 0.040 19 13303831 frameshift variant CT/- del
CUI: C4082299
Disease: Bulbar palsy
Bulbar palsy 		Nervous System Diseases 0.700 0
dbSNP: rs1064794262
rs1064794262 		0.925 0.040 19 13303831 frameshift variant CT/- del
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		Nervous System Diseases 0.700 0
dbSNP: rs121908212
rs121908212 		0.732 0.160 19 13303877 missense variant G/A snv
CUI: C0752124
Disease: Spinocerebellar Ataxia Type 6 (disorder)
Spinocerebellar Ataxia Type 6 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs121908212
rs121908212 		0.732 0.160 19 13303877 missense variant G/A snv
CUI: C1832885
Disease: MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA
MIGRAINE, SPORADIC HEMIPLEGIC, WITH PROGRESSIVE CEREBELLAR ATAXIA 		0.700 0
dbSNP: rs121908216
rs121908216 		0.882 0.200 19 13235702 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs121908216
rs121908216 		0.882 0.200 19 13235702 missense variant C/T snv
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.700 0