Variant: rs267607227 

    present in Gene: DNAAF1
    present in Chromosome: 16
    Position on Chromosome: 84154748
    Alleles of this Variant: T/C;G

rs267607227 in DNAAF1 gene and CILIARY DYSKINESIA, PRIMARY, 13 PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

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.

rs267607227 in DNAAF1 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 19944405 2009 Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.