Variant: rs118204043 

    present in Gene: RSPH4A
    present in Chromosome: 6
    Position on Chromosome: 116628175
    Alleles of this Variant: C/T

rs118204043 in RSPH4A gene and Ciliary Motility Disorders PMID 22448264 2012 Mutations in radial spoke head genes and ultrastructural cilia defects in East-European cohort of primary ciliary dyskinesia patients.

PMID 19200523 2009 Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalities.