Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777499
rs587777499
TGGGCC 0.700 CausalMutation CLINVAR Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis. 26777464

2016

dbSNP: rs1060503388
rs1060503388
A 0.700 CausalMutation CLINVAR Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia. 26139845

2015

dbSNP: rs587777499
rs587777499
TGGGCC 0.700 CausalMutation CLINVAR Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133

2015

dbSNP: rs1060503388
rs1060503388
A 0.700 CausalMutation CLINVAR Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639

2014

dbSNP: rs587777498
rs587777498
CGGGCA 0.700 CausalMutation CLINVAR Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639

2014

dbSNP: rs587777499
rs587777499
TGGGCC 0.700 CausalMutation CLINVAR Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639

2014

dbSNP: rs587777502
rs587777502
CGGGCT 0.700 CausalMutation CLINVAR Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639

2014

dbSNP: rs1554019966
rs1554019966
C 0.700 GeneticVariation CLINVAR

dbSNP: rs774393276
rs774393276
AC 0.700 CausalMutation CLINVAR

dbSNP: rs775051461
rs775051461
G 0.700 CausalMutation CLINVAR