Gene: CCDC40 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501719
rs1060501719
CCDC40
ACCG 0.700 CausalMutation CLINVAR

dbSNP: rs1418585908
rs1418585908
CCDC40 ; MIR1268B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1567818236
rs1567818236
CCDC40 ; MIR1268B
A 0.700 CausalMutation CLINVAR

dbSNP: rs1568667609
rs1568667609
CCDC40
T 0.700 CausalMutation CLINVAR

dbSNP: rs370706991
rs370706991
CCDC40
A 0.700 CausalMutation CLINVAR

dbSNP: rs374909386
rs374909386
GAA ; CCDC40
A 0.700 CausalMutation CLINVAR

dbSNP: rs587778819
rs587778819
CCDC40
ACTGT 0.700 CausalMutation CLINVAR

dbSNP: rs587778819
rs587778819
CCDC40
ATGT 0.700 CausalMutation CLINVAR

dbSNP: rs751191119
rs751191119
CCDC40
A 0.700 CausalMutation CLINVAR

dbSNP: rs754867753
rs754867753
CCDC40
T 0.700 CausalMutation CLINVAR

dbSNP: rs762664261
rs762664261
CCDC40
G 0.700 GeneticVariation CLINVAR

dbSNP: rs764551914
rs764551914
CCDC40
T 0.700 CausalMutation CLINVAR

dbSNP: rs773796940
rs773796940
CCDC40
T 0.700 CausalMutation CLINVAR

dbSNP: rs774081599
rs774081599
CCDC40
A 0.700 GeneticVariation CLINVAR

dbSNP: rs775299709
rs775299709
CCDC40
T 0.700 CausalMutation CLINVAR

dbSNP: rs878855041
rs878855041
CCDC40
T 0.700 CausalMutation CLINVAR

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

2012
dbSNP: rs1568709952
rs1568709952
CCDC40
T 0.700 GeneticVariation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285

2012
dbSNP: rs370706991
rs370706991
CCDC40
T 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 Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285

2012
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: rs371595543
rs371595543
CCDC40
T 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 High prevalence of respiratory ciliary dysfunction in congenital heart disease patients with heterotaxy. 22499950

2012