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: rs587777677
rs587777677
1.000 0.280 18 7050692 splice donor variant A/C snv
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587777678
rs587777678
1.000 0.280 18 6956768 splice region variant GTAGAAACAAGAG/- delins
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587777680
rs587777680
1.000 0.280 18 7016663 frameshift variant TA/- delins
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587777681
rs587777681
1.000 0.280 18 7050727 stop gained A/C snv
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs797045182
rs797045182
1.000 0.280 18 6973130 frameshift variant G/- delins
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs797045184
rs797045184
1.000 0.280 18 6977724 splice region variant C/G snv
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1555640521
rs1555640521
0.790 0.320 18 6942110 frameshift variant A/- delins
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs1555643185
rs1555643185
1.000 0.280 18 6956661 frameshift variant -/CTTGCTG delins
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs1555654766
rs1555654766
1.000 0.280 18 7023202 missense variant C/A;T snv
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs1555656402
rs1555656402
1.000 0.280 18 7032124 missense variant C/T snv
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs1568019012
rs1568019012
0.790 0.360 18 6985616 stop gained G/A snv
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0
dbSNP: rs587777679
rs587777679
1.000 0.280 18 7016494 frameshift variant T/- del 1.2E-05 2.8E-05
Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms; Cardiovascular Diseases 0.700 0