Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123018
rs398123018
RTEL1 ; RTEL1-TNFRSF6B
T 0.800 GeneticVariation CLINVAR Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants. 27415407

2017
dbSNP: rs398123018
rs398123018
RTEL1 ; RTEL1-TNFRSF6B
T 0.800 GeneticVariation CLINVAR Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664

2013
dbSNP: rs398123018
rs398123018
RTEL1 ; RTEL1-TNFRSF6B
0.800 GeneticVariation UNIPROT Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. 23591994

2013
dbSNP: rs398123018
rs398123018
RTEL1 ; RTEL1-TNFRSF6B
0.800 GeneticVariation UNIPROT A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. 24009516

2013
dbSNP: rs398123018
rs398123018
RTEL1 ; RTEL1-TNFRSF6B
0.800 GeneticVariation UNIPROT Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664

2013
dbSNP: rs398123018
rs398123018
RTEL1 ; RTEL1-TNFRSF6B
0.800 GeneticVariation UNIPROT Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892

2013
dbSNP: rs398123018
rs398123018
RTEL1 ; RTEL1-TNFRSF6B
0.800 GeneticVariation UNIPROT Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068

2013
dbSNP: rs398123018
rs398123018
RTEL1 ; RTEL1-TNFRSF6B
T 0.800 CausalMutation CLINVAR