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: rs544674332
rs544674332
DNAH1
C 0.700 CausalMutation CLINVAR Variation in DNAH1 may contribute to primary ciliary dyskinesia. 25927852

2015
dbSNP: rs797045147
rs797045147
RSPH4A
TC 0.700 CausalMutation CLINVAR Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population. 24824133

2015
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: rs151107532
rs151107532
RSPH1
G 0.700 CausalMutation CLINVAR Mutations in RSPH1 cause primary ciliary dyskinesia with a unique clinical and ciliary phenotype. 24568568

2014
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: 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: rs587777780
rs587777780
CCDC151
T 0.700 CausalMutation CLINVAR CCDC151 mutations cause primary ciliary dyskinesia by disruption of the outer dynein arm docking complex formation. 25192045

2014
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: rs797045146
rs797045146
DNAAF2
T 0.700 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014
dbSNP: rs138815960
rs138815960
ZMYND10
C 0.700 CausalMutation 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: rs147718607
rs147718607
CCDC114
T 0.700 CausalMutation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013
dbSNP: rs147718607
rs147718607
CCDC114
T 0.700 CausalMutation CLINVAR Splice-site mutations in the axonemal outer dynein arm docking complex gene CCDC114 cause primary ciliary dyskinesia. 23261303

2013
dbSNP: rs201740530
rs201740530
SPAG1
T 0.700 CausalMutation CLINVAR Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 24055112

2013
dbSNP: rs397515363
rs397515363
DNAI1 ; FAM219A
GT 0.700 CausalMutation CLINVAR Primary ciliary dyskinesia-causing mutations in Amish and Mennonite communities. 23477994

2013
dbSNP: rs587777047
rs587777047
ARMC4
C 0.700 CausalMutation CLINVAR ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778

2013
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: rs797045149
rs797045149
SPAG1
G 0.700 CausalMutation CLINVAR Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms. 24055112

2013
dbSNP: rs869320683
rs869320683
RSPH4A
T 0.700 CausalMutation CLINVAR Founder mutation in RSPH4A identified in patients of Hispanic descent with primary ciliary dyskinesia. 23798057

2013
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: rs387907021
rs387907021
DNAL1
G 0.700 CausalMutation CLINVAR Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1. 21496787

2011
dbSNP: rs267607227
rs267607227
DNAAF1
G 0.700 CausalMutation CLINVAR Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia. 19944405

2009