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: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0268354
Disease: De Barsy syndrome
De Barsy syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 2 2015 2016
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C1832669
Disease: SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder)
SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT (disorder) 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases 0.800 1.000 2 2015 2016
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.700 1.000 2 2015 2016
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0024031
Disease: Low Back Pain
Low Back Pain 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C1836296
Disease: Muscle Weakness Lower Limb
Muscle Weakness Lower Limb 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C1136179
Disease: Hammer Toe
Hammer Toe 		Musculoskeletal Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
Kyphoscoliosis deformity of spine 		Musculoskeletal Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0037771
Disease: Paraparesis, Spastic
Paraparesis, Spastic 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0231686
Disease: Gait, Unsteady
Gait, Unsteady 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0231687
Disease: Spastic gait
Spastic gait 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C4024603
Disease: Atrophy of quadriceps femoris muscle
Atrophy of quadriceps femoris muscle 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C1184923
Disease: Lumbar hyperlordosis
Lumbar hyperlordosis 		Musculoskeletal Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C1844820
Disease: Range of joint movement increased
Range of joint movement increased 		0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0018681
Disease: Headache
Headache 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		Musculoskeletal Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		Mental Disorders 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C1836308
Disease: Generalized joint laxity
Generalized joint laxity 		0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1 		0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/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: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0015672
Disease: Fatigue
Fatigue 		Pathological Conditions, Signs and Symptoms 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		Respiratory Tract Diseases 0.700 0
dbSNP: rs864321670
rs864321670 		0.763 0.320 10 95633012 missense variant C/T snv
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0