Variant: rs281865547 

    present in Gene: WRAP53;TP53
    present in Chromosome: 17
    Position on Chromosome: 7689284
    Alleles of this Variant: C/A

rs281865547 in WRAP53;TP53 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.