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: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3 		0.800 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C3553764
Disease: Joint hyperflexibility
Joint hyperflexibility 		0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C1859778
Disease: Postnatal growth retardation
Postnatal growth retardation 		0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C2673700
Disease: Brisk reflexes
Brisk reflexes 		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: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C0010495
Disease: Cutis Laxa
Cutis Laxa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;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 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		0.700 0
dbSNP: rs864321669
rs864321669 		1.000 0.160 10 95633040 missense variant C/G 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: 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