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: rs370343781
rs370343781
RTEL1 ; RTEL1-TNFRSF6B
T 0.800 CausalMutation CLINVAR TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation. 26808564

2016
dbSNP: rs370343781
rs370343781
RTEL1 ; RTEL1-TNFRSF6B
T 0.800 CausalMutation CLINVAR Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients. 27418648

2016
dbSNP: rs370343781
rs370343781
RTEL1 ; RTEL1-TNFRSF6B
T 0.800 CausalMutation CLINVAR Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome. 23959892

2013
dbSNP: rs370343781
rs370343781
RTEL1 ; RTEL1-TNFRSF6B
0.800 GeneticVariation UNIPROT Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664

2013
dbSNP: rs370343781
rs370343781
RTEL1 ; RTEL1-TNFRSF6B
T 0.800 CausalMutation CLINVAR Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664

2013
dbSNP: rs370343781
rs370343781
RTEL1 ; RTEL1-TNFRSF6B
0.800 GeneticVariation UNIPROT Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability. 23591994

2013
dbSNP: rs370343781
rs370343781
RTEL1 ; RTEL1-TNFRSF6B
0.800 GeneticVariation UNIPROT Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. 23329068

2013
dbSNP: rs370343781
rs370343781
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: rs370343781
rs370343781
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
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: rs370343781
rs370343781
RTEL1 ; RTEL1-TNFRSF6B
T 0.800 CausalMutation CLINVAR Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome. 19461895

2009
dbSNP: rs398123018
rs398123018
RTEL1 ; RTEL1-TNFRSF6B
T 0.800 CausalMutation CLINVAR

dbSNP: rs373740199
rs373740199
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 CausalMutation CLINVAR Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea. 28930861

2017
dbSNP: rs373740199
rs373740199
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 CausalMutation CLINVAR An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. 28099038

2017
dbSNP: rs398123017
rs398123017
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 CausalMutation CLINVAR An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis. 28099038

2017
dbSNP: rs373740199
rs373740199
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 CausalMutation CLINVAR Novel Compound Heterozygous RTEL1 Gene Mutations in a Patient With Hoyeraal-Hreidarsson Syndrome. 27128385

2016
dbSNP: rs201540674
rs201540674
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
A 0.700 CausalMutation CLINVAR Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 25047097

2015
dbSNP: rs201540674
rs201540674
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
A 0.700 GeneticVariation CLINVAR TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding. 25620558

2015
dbSNP: rs201540674
rs201540674
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
A 0.700 GeneticVariation CLINVAR Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population. 25047097

2015