|
rs6010620
|
RTEL1;RTEL1-TNFRSF6B
|
Glioma
|
|
0.900 |
GeneticVariation |
BEFREE |
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)).
|
19578367 |
2009 |
|
rs6010620
|
RTEL1;RTEL1-TNFRSF6B
|
Glioma
|
G |
0.900 |
GeneticVariation |
GWASDB |
We identified five risk loci for glioma at 5p15.33 (rs2736100, TERT; P = 1.50 x 10(-17)), 8q24.21 (rs4295627, CCDC26; P = 2.34 x 10(-18)), 9p21.3 (rs4977756, CDKN2A-CDKN2B; P = 7.24 x 10(-15)), 20q13.33 (rs6010620, RTEL1; P = 2.52 x 10(-12)) and 11q23.3 (rs498872, PHLDB1; P = 1.07 x 10(-8)).
|
19578367 |
2009 |
|
rs2297440
|
RTEL1;RTEL1-TNFRSF6B
|
Glioma
|
C |
0.820 |
GeneticVariation |
GWASCAT |
Sex-specific glioma genome-wide association study identifies new risk locus at 3p21.31 in females, and finds sex-differences in risk at 8q24.21.
|
29743610 |
2018 |
|
rs2297440
|
RTEL1;RTEL1-TNFRSF6B
|
Glioma
|
C |
0.820 |
GeneticVariation |
GWASCAT |
Genome-wide association study of glioma subtypes identifies specific differences in genetic susceptibility to glioblastoma and non-glioblastoma tumors.
|
28346443 |
2017 |
|
rs2297440
|
RTEL1;RTEL1-TNFRSF6B
|
Glioma
|
|
0.820 |
GeneticVariation |
BEFREE |
This meta-analysis demonstrates that the RTEL1 rs2297440 polymorphism plays a moderate, but significant role in the risk of gli</span>oma.
|
26939676 |
2016 |
|
rs2297440
|
RTEL1;RTEL1-TNFRSF6B
|
Glioma
|
|
0.820 |
GeneticVariation |
BEFREE |
Two single variants, the genotypes of "GG" of rs6010620 and "CC" of rs2297440</span> (rs6010620 and rs2297440) in the RTEL1 gene, together with two haplotypes of GCT and ATT, were identified to be associated with glioma development.
|
23683922 |
2013 |
|
rs2297440
|
RTEL1;RTEL1-TNFRSF6B
|
Glioma
|
|
0.820 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies five susceptibility loci for glioma.
|
19578367 |
2009 |
|
rs6010620
|
RTEL1;RTEL1-TNFRSF6B
|
Dermatitis, Atopic
|
G |
0.810 |
GeneticVariation |
GWASCAT |
Multi-ancestry genome-wide association study of 21,000 cases and 95,000 controls identifies new risk loci for atopic dermatitis.
|
26482879 |
2015 |
|
rs6010620
|
RTEL1;RTEL1-TNFRSF6B
|
Dermatitis, Atopic
|
|
0.810 |
GeneticVariation |
BEFREE |
These SNPs (rs11204971, rs3126085, rs7936562, rs712484 and rs6010620) at AD susceptibility genes/loci FLG, 11q13.5 and 20q13.33 were not associated with asthma in this study.
|
22545103 |
2012 |
|
rs6010620
|
RTEL1;RTEL1-TNFRSF6B
|
Dermatitis, Atopic
|
|
0.810 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies two new susceptibility loci for atopic dermatitis in the Chinese Han population.
|
21666691 |
2011 |
|
rs398123018
|
RTEL1;RTEL1-TNFRSF6B
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants.
|
27415407 |
2017 |
|
rs370343781
|
RTEL1;RTEL1-TNFRSF6B
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
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 |
|
rs370343781
|
RTEL1;RTEL1-TNFRSF6B
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
T |
0.800 |
CausalMutation |
CLINVAR |
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
|
27418648 |
2016 |
|
rs6010620
|
RTEL1;RTEL1-TNFRSF6B
|
Central Nervous System Neoplasms
|
G |
0.800 |
GeneticVariation |
GWASCAT |
Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
|
24908248 |
2014 |
|
rs6010620
|
RTEL1;RTEL1-TNFRSF6B
|
Central Nervous System Neoplasms
|
G |
0.800 |
GeneticVariation |
GWASDB |
Variants near TERT and TERC influencing telomere length are associated with high-grade glioma risk.
|
24908248 |
2014 |
|
rs370343781
|
RTEL1;RTEL1-TNFRSF6B
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
T |
0.800 |
CausalMutation |
CLINVAR |
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
|
23959892 |
2013 |
|
rs370343781
|
RTEL1;RTEL1-TNFRSF6B
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
|
23453664 |
2013 |
|
rs370343781
|
RTEL1;RTEL1-TNFRSF6B
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
T |
0.800 |
CausalMutation |
CLINVAR |
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
|
23453664 |
2013 |
|
rs370343781
|
RTEL1;RTEL1-TNFRSF6B
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
|
23591994 |
2013 |
|
rs370343781
|
RTEL1;RTEL1-TNFRSF6B
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.
|
23329068 |
2013 |
|
rs370343781
|
RTEL1;RTEL1-TNFRSF6B
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
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 |
|
rs370343781
|
RTEL1;RTEL1-TNFRSF6B
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.
|
23959892 |
2013 |
|
rs398123018
|
RTEL1;RTEL1-TNFRSF6B
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
|
23453664 |
2013 |
|
rs398123018
|
RTEL1;RTEL1-TNFRSF6B
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.800 |
GeneticVariation |
UNIPROT |
Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.
|
23591994 |
2013 |
|
rs398123018
|
RTEL1;RTEL1-TNFRSF6B
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
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 |