rs3848669

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.

Eczematoid dermatitis

Grosche S et al. “Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4.” Nature Communications 12(1):6618 (2021)
Allele T
OR 1.13
p 8.0e-20
N 400,449
Large GWAS
European

atopic eczema

Sliz E et al. “Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis.” The Journal of Allergy and Clinical Immunology 149(3):1105-1112.e9 (2022)
Allele T
OR 1.11
p 3.0e-15
N 796,661
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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