rs35640778

This variant is located in the RTEL1 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

chromosome, telomeric region length

Burren OS et al. “Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.” Nature Genetics 56(9):1832-1840 (2024)
Allele G
OR 0.27
p 1.0e-300
N 438,351
Major Consortium StudyLarge GWAS
European
Liu WS et al. “Whole exome sequencing analyses reveal novel genes in telomere length and their biomedical implications.” Geroscience 46(5):5365-5385 (2024)
Allele G
OR 0.20
p 3.0e-144
N 327,790
Large GWAS
European

cutaneous melanoma

Liyanage UE et al. “Multi-Trait Genetic Analysis Identifies Autoimmune Loci Associated with Cutaneous Melanoma.” The Journal of Investigative Dermatology 142(6):1607-1616 (2022)
Allele G
OR 0.16
p 4.0e-8
N 380,287
Large GWAS
European

erythrocyte volume

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.06
p 8.0e-13
N 480,305
Large GWAS
multi-ancestry
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.05
p 2.0e-11
N 408,112
Large GWAS
European
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ClinVar annotation

Likely Benign★★★☆
10 submitters3 publications

Dyskeratosis congenita, autosomal recessive 5;Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3; Dyskeratosis congenita; not provided; not specified

View on ClinVar →

About RTEL1

This gene encodes a DNA helicase which functions in the stability, protection and elongation of telomeres and interacts with proteins in the shelterin complex known to protect telomeres during DNA replication. Mutations in this gene have been associated with dyskeratosis congenita and Hoyerall-Hreidarsson syndrome. Read-through transcription of this gene into the neighboring downstream gene, which encodes tumor necrosis factor receptor superfamily, member 6b, generates a non-coding transcript. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

View all RTEL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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