Variant: rs121918543 

    present in Gene: TINF2
    present in Chromosome: 14
    Position on Chromosome: 24240642
    Alleles of this Variant: T/A;C

rs121918543 in TINF2 gene and DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 3 PMID 18252230 2008 TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita.