Variant: rs281865548 

    present in Gene: WRAP53
    present in Chromosome: 17
    Position on Chromosome: 7702770
    Alleles of this Variant: C/T

rs281865548 in WRAP53 gene and DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE, 3 PMID 21602826 2011 Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

PMID 21205863 2011 Disruption of telomerase trafficking by TCAB1 mutation causes dyskeratosis congenita.