rs6062302

This is a synonymous variant in the RTEL1 gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (2)

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

glioblastoma multiforme

Kinnersley B et al. “Genome-wide association study identifies multiple susceptibility loci for glioma.” Nature Communications 6:8559 (2015)

Allele C

OR 1.43

p 1.0e-13

N 9,218

Large GWAS

European

diastolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele C

OR 0.12

p 2.0e-11

N 1,028,980

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

13 submitters3 publications

Dyskeratosis congenita; Dyskeratosis congenita, autosomal recessive 5 (DKCB5); Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3; 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]