Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060500990
rs1060500990
CCDC114
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501454
rs1060501454
DNAH5
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1060501466
rs1060501466
DNAH5
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503041
rs1060503041
DNAH11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503064
rs1060503064
DNAH11
C 0.700 GeneticVariation CLINVAR

dbSNP: rs116938457
rs116938457
DNAI1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1178187217
rs1178187217
DNAH11
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1200826286
rs1200826286
DNAAF4 ; DNAAF4-CCPG1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1210953680
rs1210953680
CCDC39
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1212535211
rs1212535211
DNAH11 ; CDCA7L
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1297857806
rs1297857806
RASSF1 ; ZMYND10
T 0.700 GeneticVariation CLINVAR Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia. 23891471

2013
dbSNP: rs1297857806
rs1297857806
RASSF1 ; ZMYND10
T 0.700 GeneticVariation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
dbSNP: rs1304504006
rs1304504006
DNAH5
A 0.700 GeneticVariation CLINVAR Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia. 19357118

2009
dbSNP: rs1304504006
rs1304504006
DNAH5
A 0.700 GeneticVariation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
dbSNP: rs1305797678
rs1305797678
DNAH5
G 0.700 GeneticVariation CLINVAR The prevalence of clinical features associated with primary ciliary dyskinesia in a heterotaxy population: results of a web-based survey. 24905662

2015
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: 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 Mutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein arms. 23255504

2013
dbSNP: rs139519641
rs139519641
DNAAF1
A 0.700 GeneticVariation CLINVAR Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. 19944405

2009
dbSNP: rs139519641
rs139519641
DNAAF1
A 0.700 GeneticVariation CLINVAR Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. 19944400

2009
dbSNP: rs144711161
rs144711161
DNAH8
A 0.700 GeneticVariation CLINVAR

dbSNP: rs145974361
rs145974361
DNAH8
A 0.700 GeneticVariation CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375

2014
dbSNP: rs146412095
rs146412095
DRC1
A 0.700 GeneticVariation CLINVAR The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans. 23354437

2013
dbSNP: rs1484826593
rs1484826593
DNAH5
C 0.700 GeneticVariation CLINVAR Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry. 11788826

2002
dbSNP: rs1484826593
rs1484826593
DNAH5
C 0.700 GeneticVariation CLINVAR DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. 16627867

2006