CCNO, cyclin O, 10309

N. diseases: 67; N. variants: 11
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: rs587777499
rs587777499
0.925 0.160 5 55233261 frameshift variant -/CGGGC;CGGGCCGGGC delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 3 2014 2016
dbSNP: rs1060503388
rs1060503388
5 55231653 stop gained G/A snv 5.3E-06
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 2 2014 2015
dbSNP: rs587777498
rs587777498
0.925 0.160 5 55233272 frameshift variant CAGGG/-;CAGGGCAGGG delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs587777502
rs587777502
0.925 0.160 5 55233256 frameshift variant -/TGGGC delins 4.9E-06; 1.3E-04; 4.9E-06; 2.0E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1554019966
rs1554019966
5 55232365 missense variant T/C snv
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs587777498
rs587777498
0.925 0.160 5 55233272 frameshift variant CAGGG/-;CAGGGCAGGG delins
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 0
dbSNP: rs587777498
rs587777498
0.925 0.160 5 55233272 frameshift variant CAGGG/-;CAGGGCAGGG delins
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs587777499
rs587777499
0.925 0.160 5 55233261 frameshift variant -/CGGGC;CGGGCCGGGC delins
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 0
dbSNP: rs587777499
rs587777499
0.925 0.160 5 55233261 frameshift variant -/CGGGC;CGGGCCGGGC delins
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs587777500
rs587777500
0.925 0.160 5 55231502 frameshift variant G/- delins
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs587777500
rs587777500
0.925 0.160 5 55231502 frameshift variant G/- delins
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 0
dbSNP: rs587777501
rs587777501
0.925 0.160 5 55231467 stop gained G/A snv
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 0
dbSNP: rs587777501
rs587777501
0.925 0.160 5 55231467 stop gained G/A snv
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs587777502
rs587777502
0.925 0.160 5 55233256 frameshift variant -/TGGGC delins 4.9E-06; 1.3E-04; 4.9E-06; 2.0E-05
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 0
dbSNP: rs587777502
rs587777502
0.925 0.160 5 55233256 frameshift variant -/TGGGC delins 4.9E-06; 1.3E-04; 4.9E-06; 2.0E-05
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs587777503
rs587777503
0.925 0.160 5 55232446 frameshift variant AG/- delins 4.0E-06 7.0E-06
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0
dbSNP: rs587777503
rs587777503
0.925 0.160 5 55232446 frameshift variant AG/- delins 4.0E-06 7.0E-06
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 0
dbSNP: rs774393276
rs774393276
5 55232389 frameshift variant -/C delins 2.4E-05 2.8E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs775051461
rs775051461
1.000 5 55231790 missense variant A/G snv 9.8E-05 6.3E-05
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 0
dbSNP: rs775051461
rs775051461
1.000 5 55231790 missense variant A/G snv 9.8E-05 6.3E-05
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.700 0
dbSNP: rs797045150
rs797045150
0.925 0.160 5 55231712 missense variant T/C snv
CUI: C4014534
Disease: CILIARY DYSKINESIA, PRIMARY, 29
CILIARY DYSKINESIA, PRIMARY, 29
0.700 0
dbSNP: rs797045150
rs797045150
0.925 0.160 5 55231712 missense variant T/C snv
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases; Cardiovascular Diseases 0.700 0