Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1210953680
rs1210953680
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1275367324
rs1275367324
T 0.700 CausalMutation CLINVAR

dbSNP: rs1285431486
rs1285431486
T 0.700 CausalMutation CLINVAR

dbSNP: rs1415346246
rs1415346246
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553803540
rs1553803540
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553804100
rs1553804100
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1553804209
rs1553804209
GT 0.700 CausalMutation CLINVAR

dbSNP: rs1553804220
rs1553804220
T 0.700 CausalMutation CLINVAR

dbSNP: rs1553804640
rs1553804640
A 0.700 CausalMutation CLINVAR

dbSNP: rs1553805740
rs1553805740
CTG 0.700 CausalMutation CLINVAR

dbSNP: rs1553805885
rs1553805885
G 0.700 CausalMutation CLINVAR

dbSNP: rs1560086701
rs1560086701
T 0.700 CausalMutation CLINVAR

dbSNP: rs1560090006
rs1560090006
C 0.700 CausalMutation CLINVAR

dbSNP: rs1560092160
rs1560092160
A 0.700 CausalMutation CLINVAR

dbSNP: rs1560092440
rs1560092440
T 0.700 CausalMutation CLINVAR

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: rs201780665
rs201780665
A 0.700 CausalMutation CLINVAR The role of molecular genetic analysis in the diagnosis of primary ciliary dyskinesia. 24498942

2014

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: 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 Diagnosis of Primary Ciliary Dyskinesia by a Targeted Next-Generation Sequencing Panel: Molecular and Clinical Findings in Italian Patients. 27637300

2016

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

2012