Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223325
rs863223325
G 0.700 GeneticVariation CLINVAR CCDC65 mutation causes primary ciliary dyskinesia with normal ultrastructure and hyperkinetic cilia. 23991085

2013

dbSNP: rs863223325
rs863223325
G 0.700 GeneticVariation CLINVAR Zebrafish Ciliopathy Screen Plus Human Mutational Analysis Identifies C21orf59 and CCDC65 Defects as Causing Primary Ciliary Dyskinesia. 24094744

2013

dbSNP: rs863223325
rs863223325
G 0.700 GeneticVariation CLINVAR Carrier frequencies of eleven mutations in eight genes associated with primary ciliary dyskinesia in the Ashkenazi Jewish population. 25802884

2015