Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs879253744
rs879253744
ARMC4
T 0.700 CausalMutation CLINVAR ARMC4 mutations cause primary ciliary dyskinesia with randomization of left/right body asymmetry. 23849778

2013
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
C 0.700 CausalMutation CLINVAR A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder. 26123568

2015
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
C 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
C 0.700 CausalMutation CLINVAR Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 27637300

2016
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
C 0.700 CausalMutation CLINVAR CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms. 22581229

2012
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
C 0.700 CausalMutation CLINVAR High prevalence of CCDC103 p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigations. 28790179

2018
dbSNP: rs145457535
rs145457535
CCDC103 ; FAM187A
C 0.700 CausalMutation CLINVAR Homozygosity by descent of a 3Mb chromosome 17 haplotype causes coinheritance of Glanzmann thrombasthenia and primary ciliary dyskinesia. 24357714

2013
dbSNP: rs746242380
rs746242380
CCDC103 ; FAM187A
CAG 0.700 CausalMutation CLINVAR

dbSNP: rs746242380
rs746242380
CCDC103 ; FAM187A
CAG 0.700 GeneticVariation CLINVAR

dbSNP: rs1060500990
rs1060500990
CCDC114
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1421531868
rs1421531868
CCDC114
C 0.700 CausalMutation CLINVAR

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

2013
dbSNP: rs201133219
rs201133219
CCDC114
T 0.700 CausalMutation CLINVAR Exome sequencing identifies mutations in CCDC114 as a cause of primary ciliary dyskinesia. 23261302

2013
dbSNP: rs753915759
rs753915759
CCDC114
CG 0.700 CausalMutation CLINVAR

dbSNP: rs766394527
rs766394527
CCDC114
AC 0.700 CausalMutation CLINVAR

dbSNP: rs1210953680
rs1210953680
CCDC39
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1275367324
rs1275367324
CCDC39
T 0.700 CausalMutation CLINVAR

dbSNP: rs1285431486
rs1285431486
CCDC39
T 0.700 CausalMutation CLINVAR

dbSNP: rs1415346246
rs1415346246
CCDC39
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553803540
rs1553803540
CCDC39
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553804100
rs1553804100
CCDC39
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553804209
rs1553804209
CCDC39
GT 0.700 CausalMutation CLINVAR

dbSNP: rs1553804220
rs1553804220
CCDC39
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553804640
rs1553804640
CCDC39
A 0.700 CausalMutation CLINVAR