Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201133219
rs201133219
CCDC114
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders 		T 0.700 CausalMutation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013
dbSNP: rs201133219
rs201133219
CCDC114
CUI: C3540844
Disease: CILIARY DYSKINESIA, PRIMARY, 20
CILIARY DYSKINESIA, PRIMARY, 20 		T 0.700 CausalMutation CLINVAR

dbSNP: rs201133219
rs201133219
CCDC114
CUI: C3540844
Disease: CILIARY DYSKINESIA, PRIMARY, 20
CILIARY DYSKINESIA, PRIMARY, 20 		T 0.700 GeneticVariation CLINVAR