Variant: rs1555899111

present in Gene: RTEL1;RTEL1-TNFRSF6B present in Chromosome: 20 Position on Chromosome: 63659506 Alleles of this Variant: T/C

rs1555899111 in RTEL1;RTEL1-TNFRSF6B gene and Dyskeratosis Congenita PMID 24582487 2014 RTEL1: functions of a disease-associated helicase.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.