Gene: CCDC40 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1346603171
rs1346603171
CCDC40
A 0.700 GeneticVariation 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: rs1346603171
rs1346603171
CCDC40
A 0.700 GeneticVariation CLINVAR The coiled-coil domain containing protein CCDC40 is essential for motile cilia function and left-right axis formation. 21131974

2011
dbSNP: rs1346603171
rs1346603171
CCDC40
A 0.700 GeneticVariation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285

2012
dbSNP: rs1418585908
rs1418585908
CCDC40 ; MIR1268B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567818236
rs1567818236
CCDC40 ; MIR1268B
A 0.700 CausalMutation CLINVAR

dbSNP: rs370706991
rs370706991
CCDC40
A 0.700 CausalMutation CLINVAR

dbSNP: rs374909386
rs374909386
GAA ; CCDC40
A 0.700 CausalMutation CLINVAR

dbSNP: rs751191119
rs751191119
CCDC40
A 0.700 CausalMutation CLINVAR

dbSNP: rs774081599
rs774081599
CCDC40
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501719
rs1060501719
CCDC40
ACCG 0.700 CausalMutation CLINVAR

dbSNP: rs587778819
rs587778819
CCDC40
ACTGT 0.700 CausalMutation CLINVAR

dbSNP: rs587778819
rs587778819
CCDC40
ATGT 0.700 CausalMutation CLINVAR

dbSNP: rs764011276
rs764011276
CCDC40
C 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: rs878855042
rs878855042
CCDC40
CT 0.700 CausalMutation CLINVAR

dbSNP: rs397515393
rs397515393
CCDC40
G 0.700 CausalMutation CLINVAR CCDC40 mutation as a cause of primary ciliary dyskinesia: a case report and review of literature. 25619595

2016
dbSNP: rs397515393
rs397515393
CCDC40
G 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
dbSNP: rs397515393
rs397515393
CCDC40
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
dbSNP: rs397515393
rs397515393
CCDC40
G 0.700 CausalMutation CLINVAR High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. 22499950

2012
dbSNP: rs397515393
rs397515393
CCDC40
G 0.700 CausalMutation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285

2012
dbSNP: rs397515393
rs397515393
CCDC40
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
CCDC40
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
CCDC40
G 0.700 CausalMutation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285

2012
dbSNP: rs750708201
rs750708201
CCDC40
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
dbSNP: rs762664261
rs762664261
CCDC40
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1568667609
rs1568667609
CCDC40
T 0.700 CausalMutation CLINVAR