rs8114049

This is a intron variant variant in the RTEL1 gene.

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GWAS Catalog Trait Associations (2)

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 C
OR 0.05
p 6.0e-129
N 438,351
Major Consortium StudyLarge GWAS
European

hand eczema

Rosenberg FM et al. “A genome-wide association study of hand eczema identifies locus 20q13.33 and reveals genetic overlap with atopic dermatitis.” Contact Dermatitis 91(3):190-202 (2024)
Allele T
OR 0.20
p 9.0e-14
N 15,195
Large GWAS
European

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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