Variant: rs139519641 

    present in Gene: DNAAF1
    present in Chromosome: 16
    Position on Chromosome: 84174723
    Alleles of this Variant: G/A

rs139519641 in DNAAF1 gene and Ciliary Motility Disorders PMID 19944405 2009 Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.

PMID 19944400 2009 Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects.