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: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1857644
Disease: Retinal pigment epithelial mottling
Retinal pigment epithelial mottling 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0554970
Disease: Pallor of optic disc
Pallor of optic disc 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0003079
Disease: Anisocoria
Anisocoria 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C2315100
Disease: Pediatric failure to thrive
Pediatric failure to thrive 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C4551520
Disease: Intention tremor
Intention tremor 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C3278923
Disease: Dilated ventricles (finding)
Dilated ventricles (finding) 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0426415
Disease: Large nose
Large nose 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0728829
Disease: Congenital pes cavus
Congenital pes cavus 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C3665386
Disease: Abnormal vision
Abnormal vision 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		Nervous System Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0277960
Disease: Dry hair
Dry hair 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C4021755
Disease: Abnormality of midbrain morphology
Abnormality of midbrain morphology 		0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C3489733
Disease: Oculomotor apraxia
Oculomotor apraxia 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs1043679457
rs1043679457 		0.752 0.400 5 60927745 intron variant C/A;G;T snv
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0