Variant: rs587777060 

    present in Gene: RSPH1
    present in Chromosome: 21
    Position on Chromosome: 42486428
    Alleles of this Variant: C/T

rs587777060 in RSPH1 gene and CILIARY DYSKINESIA, PRIMARY, 24 PMID 25186273 2014 Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.

PMID 23993197 2013 Loss-of-function mutations in RSPH1 cause primary ciliary dyskinesia with central-complex and radial-spoke defects.