Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777499
rs587777499
CCNO
0.925 0.160 5 55233261 frameshift variant -/CGGGC;CGGGCCGGGC delins
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		0.700 1.000 3 2014 2016
dbSNP: rs587777499
rs587777499
CCNO
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
CCNO
0.925 0.160 5 55233261 frameshift variant -/CGGGC;CGGGCCGGGC delins
CUI: C4551906
Disease: Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus
Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus 		0.700 0