Variant: rs281797258 

    present in Gene: MKKS
    present in Chromosome: 20
    Position on Chromosome: 10413265
    Alleles of this Variant: G/A

rs281797258 in MKKS gene and Kaufman-McKusick syndrome PMID 10802661 2000 Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome.

PMID 28753627 2017 Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein.