rs6089953

This is a regulatory region variant variant in the RTEL1 gene.

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GWAS Catalog Trait Associations (1)

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

atopic eczema

Chen Y et al. “Genome-Wide Integration of Genetic and Genomic Studies of Atopic Dermatitis: Insights into Genetic Architecture and Pathogenesis.” The Journal of Investigative Dermatology 142(11):2958-2967.e8 (2022)

Allele A

OR 0.10

p 1.0e-19

N 837,496

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

View on ClinVar →

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Research that mentions this SNP (1)

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Genetic analysis of the relation of telomere length‐related gene (RTEL1) and coronary heart disease risk

AssociationN=1,199Shijuan Lu et al.(2019)· Molecular Genetics & Genomic Medicine

This case-control study examined 5 SNPs in the RTEL1 gene (regulator of telomere elongation helicase 1) in 596 coronary heart disease (CHD) patients and 603 healthy controls from a Chinese Han population. Two SNPs showed protective associations: rs6010620 (OR = 0.78, 95% CI = 0.65-0.93, p = 0.005) and rs4809324 (OR = 0.08, 95% CI = 0.04-0.16, p = 2.74E-21). Haplotype analysis revealed the 'GTT' haplotype of three RTEL1 SNPs was associated with significantly decreased CHD risk (OR = 0.03, 95% CI = 0.01-0.12, p < 0.0001).

Traits studied:CHDCoronary heart disease

PubMed DOI Metascience Observatory

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]