Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777499
rs587777499
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
TGGGCC 0.700 CausalMutation CLINVAR Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis. 26777464

2016

dbSNP: rs587777499
rs587777499
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
TGGGCC 0.700 CausalMutation CLINVAR Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133

2015

dbSNP: rs587777499
rs587777499
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
TGGGCC 0.700 CausalMutation CLINVAR Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia. 24747639

2014