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: 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: 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: 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: 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: 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: 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: 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