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: rs121434583
rs121434583
1.000 0.280 10 95606800 missense variant G/A 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 0.800 1.000 4 2000 2014
dbSNP: rs864321669
rs864321669
1.000 0.160 10 95633040 missense variant C/G snv
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
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: rs869320690
rs869320690
1.000 10 95613755 missense variant A/G snv
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
0.800 1.000 1 2015 2015
dbSNP: rs752669339
rs752669339
1.000 10 95610260 missense variant C/G snv 1.2E-05 7.0E-06
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
0.800 0
dbSNP: rs766264810
rs766264810
1.000 0.160 10 95611372 missense variant C/A;T snv 1.2E-05
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: rs774047299
rs774047299
1.000 0.280 10 95606805 missense variant T/C;G snv 8.4E-05; 8.0E-06
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 0.800 0
dbSNP: rs863224945
rs863224945
1.000 0.160 10 95637381 missense variant A/G snv
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: rs863225044
rs863225044
1.000 10 95637328 missense variant G/A 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: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.800 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: 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: C4225268
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3
CUTIS LAXA, AUTOSOMAL DOMINANT 3
0.700 1.000 2 2015 2016
dbSNP: rs768323248
rs768323248
0.925 0.080 10 95637357 missense variant C/T snv 1.6E-05 7.0E-06
SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE
0.700 1.000 1 2015 2015
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: 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: rs2275272
rs2275272
1.000 0.280 10 95628405 missense variant G/A snv 0.11 0.10
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: rs537043237
rs537043237
1.000 0.280 10 95606856 missense variant C/T snv 1.2E-05 2.1E-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 0
dbSNP: rs587777858
rs587777858
1.000 0.280 10 95610272 frameshift variant G/- delins
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: rs762271422
rs762271422
1.000 0.080 10 95606919 missense variant G/A;C snv 8.0E-06; 5.2E-05
SPASTIC PARAPLEGIA 5A, AUTOSOMAL RECESSIVE (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.700 0
dbSNP: rs762742204
rs762742204
1.000 0.280 10 95621225 missense variant G/A snv 8.8E-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 0
dbSNP: rs863223315
rs863223315
1.000 0.280 10 95613741 splice donor variant C/T snv 7.0E-06
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: 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