Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs370343781
rs370343781
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 GeneticVariation CLINVAR Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892

2013
dbSNP: rs370343781
rs370343781
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 GeneticVariation CLINVAR Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664

2013