Variant: rs397514561 

    present in Gene: DNAAF5
    present in Chromosome: 7
    Position on Chromosome: 780097
    Alleles of this Variant: T/C

rs397514561 in DNAAF5 gene and CILIARY DYSKINESIA, PRIMARY, 18 PMID 23040496 2012 Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.

PMID 25232951 2014 HEATR2 plays a conserved role in assembly of the ciliary motile apparatus.

rs397514561 in DNAAF5 gene and Ciliary Motility Disorders PMID 23040496 2012 Whole-exome capture and sequencing identifies HEATR2 mutation as a cause of primary ciliary dyskinesia.