Variant: rs1555071691 

    present in Gene: CFAP300
    present in Chromosome: 11
    Position on Chromosome: 102083171
    Alleles of this Variant: A/G

rs1555071691 in CFAP300 gene and CILIARY DYSKINESIA, PRIMARY, 38 PMID 29727693 2018 Mutations in C11orf70 Cause Primary Ciliary Dyskinesia with Randomization of Left/Right Body Asymmetry Due to Defects of Outer and Inner Dynein Arms.

PMID 29727692 2018 C11orf70 Mutations Disrupting the Intraflagellar Transport-Dependent Assembly of Multiple Axonemal Dyneins Cause Primary Ciliary Dyskinesia.