rs387907092, CCDC40

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ciliary Motility Disorders
CUI: C0008780
Disease: Ciliary Motility Disorders
0.700 CausalMutation CLINVAR The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974 2011
CILIARY DYSKINESIA, PRIMARY, 15
CUI: C3151137
Disease: CILIARY DYSKINESIA, PRIMARY, 15
0.700 CausalMutation CLINVAR