Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs750708201
rs750708201
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 CausalMutation CLINVAR Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504

2013

dbSNP: rs750708201
rs750708201
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 CausalMutation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285

2012

dbSNP: rs750708201
rs750708201
CUI: C0008780
Disease: Ciliary Motility Disorders
Ciliary Motility Disorders
G 0.700 CausalMutation CLINVAR The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974

2011