Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587778820
rs587778820
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: rs201780665
rs201780665
A 0.700 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014

dbSNP: rs587778822
rs587778822
G 0.700 CausalMutation CLINVAR Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia. 25186273

2014

dbSNP: rs1007345781
rs1007345781
C 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013

dbSNP: rs1560079213
rs1560079213
C 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: rs201780665
rs201780665
A 0.700 CausalMutation 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: rs397515392
rs397515392
G 0.700 CausalMutation 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: rs753580394
rs753580394
T 0.700 CausalMutation 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: rs756235547
rs756235547
C 0.700 CausalMutation 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: rs756235547
rs756235547
C 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013

dbSNP: rs773801386
rs773801386
C 0.700 CausalMutation CLINVAR ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6. 23891469

2013

dbSNP: rs587778822
rs587778822
G 0.700 CausalMutation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285

2012

dbSNP: rs756235547
rs756235547
C 0.700 CausalMutation CLINVAR Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia. 22693285

2012

dbSNP: rs1560079213
rs1560079213
C 0.700 GeneticVariation CLINVAR CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 21131972

2011

dbSNP: rs397515392
rs397515392
G 0.700 CausalMutation CLINVAR CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 21131972

2011

dbSNP: rs397515392
rs397515392
G 0.700 CausalMutation CLINVAR Umbilical bile staining in a patient with gall-bladder perforation. 22693295

2011

dbSNP: rs577069249
rs577069249
C 0.700 CausalMutation CLINVAR CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 21131972

2011

dbSNP: rs587778820
rs587778820
C 0.700 CausalMutation CLINVAR CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 21131972

2011

dbSNP: rs587778822
rs587778822
G 0.700 CausalMutation CLINVAR CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 21131972

2011

dbSNP: rs753580394
rs753580394
T 0.700 CausalMutation CLINVAR CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 21131972

2011

dbSNP: rs756235547
rs756235547
C 0.700 CausalMutation CLINVAR CCDC39 is required for assembly of inner dynein arms and the dynein regulatory complex and for normal ciliary motility in humans and dogs. 21131972

2011

dbSNP: rs773801386
rs773801386
C 0.700 CausalMutation CLINVAR Multinuclear NMR investigations of probe construction materials at 4.7 T. 2325550

1990

dbSNP: rs1210953680
rs1210953680
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1275367324
rs1275367324
T 0.700 CausalMutation CLINVAR

dbSNP: rs1285431486
rs1285431486
T 0.700 CausalMutation CLINVAR