Variant: rs1470145133 

    present in Gene: RTEL1-TNFRSF6B;RTEL1
    present in Chromosome: 20
    Position on Chromosome: 63693183
    Alleles of this Variant: T/G

rs1470145133 in RTEL1-TNFRSF6B;RTEL1 gene and DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 PMID 23329068 2013 Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

PMID 23959892 2013 Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

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

PMID 23591994 2013 Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.

PMID 24009516 2013 A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.