Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79833450
rs79833450
DNAI1
0.800 GeneticVariation UNIPROT Axonemal dynein intermediate-chain gene (DNAI1) mutations result in situs inversus and primary ciliary dyskinesia (Kartagener syndrome). 11231901

2001
dbSNP: rs79833450
rs79833450
DNAI1
A 0.800 CausalMutation CLINVAR

dbSNP: rs138320978
rs138320978
RSPH1
A 0.700 CausalMutation CLINVAR Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568

2014
dbSNP: rs143740376
rs143740376
CFAP298 ; CFAP298-TCP10L
A 0.700 CausalMutation CLINVAR

dbSNP: rs145742175
rs145742175
ARMC4
A 0.700 CausalMutation CLINVAR

dbSNP: rs200669099
rs200669099
DNAI1
A 0.700 GeneticVariation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006
dbSNP: rs200669099
rs200669099
DNAI1
A 0.700 GeneticVariation CLINVAR Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: implications for application to clinical testing. 21270641

2011
dbSNP: rs200669099
rs200669099
DNAI1
A 0.700 CausalMutation CLINVAR

dbSNP: rs376252276
rs376252276
DNAI1
A 0.700 CausalMutation CLINVAR

dbSNP: rs387907152
rs387907152
DNAAF3
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515413
rs397515413
HYDIN
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515414
rs397515414
HYDIN
A 0.700 CausalMutation CLINVAR

dbSNP: rs397515563
rs397515563
DNAI1
A 0.700 CausalMutation CLINVAR Mutations of DNAI1 in primary ciliary dyskinesia: evidence of founder effect in a common mutation. 16858015

2006
dbSNP: rs587777059
rs587777059
RSPH1
A 0.700 CausalMutation CLINVAR Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568

2014
dbSNP: rs587777501
rs587777501
CCNO
A 0.700 CausalMutation CLINVAR

dbSNP: rs587777779
rs587777779
CCDC151
A 0.700 CausalMutation CLINVAR CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. 25192045

2014
dbSNP: rs587777779
rs587777779
CCDC151
A 0.700 CausalMutation CLINVAR Nonsense mutation in coiled-coil domain containing 151 gene (CCDC151) causes primary ciliary dyskinesia. 25224326

2014
dbSNP: rs606231165
rs606231165
DNAI1
A 0.700 CausalMutation CLINVAR

dbSNP: rs745993158
rs745993158
CCDC40
A 0.700 GeneticVariation CLINVAR

dbSNP: rs760123202
rs760123202
LRRC6
A 0.700 CausalMutation CLINVAR Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. 24307375

2014
dbSNP: rs760123202
rs760123202
LRRC6
A 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
dbSNP: rs771663107
rs771663107
DNAH5
A 0.700 CausalMutation CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994

2013
dbSNP: rs397515339
rs397515339
DNAAF1
AC 0.700 CausalMutation CLINVAR Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects. 19944400

2009
dbSNP: rs587778819
rs587778819
CCDC40
ACTGT 0.700 CausalMutation CLINVAR

dbSNP: rs397515341
rs397515341
DNAAF2
AGCCACGCAGGTATCGT 0.700 CausalMutation CLINVAR Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins. 19052621

2008