Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123051
rs398123051
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 CausalMutation CLINVAR

dbSNP: rs398123052
rs398123052
RTEL1 ; RTEL1-TNFRSF6B
0.700 GeneticVariation UNIPROT

dbSNP: rs752833281
rs752833281
RTEL1 ; RTEL1-TNFRSF6B
C 0.700 GeneticVariation CLINVAR

dbSNP: rs773025155
rs773025155
RTEL1 ; RTEL1-TNFRSF6B
C 0.700 GeneticVariation CLINVAR

dbSNP: rs778734749
rs778734749
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs780546933
rs780546933
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs895722334
rs895722334
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs961593162
rs961593162
RTEL1 ; RTEL1-TNFRSF6B
T 0.700 GeneticVariation CLINVAR

dbSNP: rs980695424
rs980695424
TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B
G 0.700 GeneticVariation CLINVAR

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: 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: rs1470145133
rs1470145133
RTEL1 ; RTEL1-TNFRSF6B
0.700 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: rs1470145133
rs1470145133
RTEL1 ; RTEL1-TNFRSF6B
0.700 GeneticVariation UNIPROT Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. 23453664

2013