Variant: rs1060501460 

    present in Gene: DNAH5
    present in Chromosome: 5
    Position on Chromosome: 13776447
    Alleles of this Variant: A/-

rs1060501460 in DNAH5 gene and CILIARY DYSKINESIA, PRIMARY, 3 PMID 11912187 2002 Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.

rs1060501460 in DNAH5 gene and Ciliary Motility Disorders PMID 11788826 2002 Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry.

PMID 16627867 2006 DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.