Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060503388
rs1060503388
CCNO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845

2015
dbSNP: rs1060503388
rs1060503388
CCNO
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		A 0.700 CausalMutation CLINVAR Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639

2014