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: rs1555262375
rs1555262375 		1.000 0.280 10 95633026 frameshift variant A/- del
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: rs4417206
rs4417206 		1.000 0.080 10 95636713 intron variant A/C snv 0.28
CUI: C0494463
Disease: Alzheimer Disease, Late Onset
Alzheimer Disease, Late Onset 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2006 2006
dbSNP: rs869320690
rs869320690 		1.000 10 95613755 missense variant A/G snv
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2015 2015
dbSNP: rs863224945
rs863224945 		1.000 0.160 10 95637381 missense variant A/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 0
dbSNP: rs1555264243
rs1555264243 		1.000 0.280 10 95643118 frameshift variant C/- del
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: rs121434582
rs121434582 		1.000 0.280 10 95643044 missense variant C/A;T snv 1.2E-05
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 4 2000 2014
dbSNP: rs766264810
rs766264810 		1.000 0.160 10 95611372 missense variant C/A;T snv 1.2E-05
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 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
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C3840083
Disease: Late closure of anterior fontanel
Late closure of anterior fontanel 		0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C3554617
Disease: Adducted thumb
Adducted thumb 		Musculoskeletal Diseases 0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C0029453
Disease: Osteopenia
Osteopenia 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs863225045
rs863225045 		0.790 0.360 10 95637327 missense variant C/A;T snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		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: 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: rs752669339
rs752669339 		1.000 10 95610260 missense variant C/G snv 1.2E-05 7.0E-06
CUI: C4225272
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE 		0.800 0
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