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: 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: 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: 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: 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: 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: 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: 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