rs34978822

This is a intron variant variant in the RTEL1 gene.

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GWAS Catalog Trait Associations (4)

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

platelet crit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.05
p 2.0e-10
N 408,112
Large GWAS
European

chromosome, telomeric region length

Li C et al. “Genome-wide Association Analysis in Humans Links Nucleotide Metabolism to Leukocyte Telomere Length.” American Journal of Human Genetics 106(3):389-404 (2020)
Allele G
OR 0.14
p 7.0e-10
N 78,592
Large GWAS
European

cancer

Rashkin SR et al. “Pan-cancer study detects genetic risk variants and shared genetic basis in two large cohorts.” Nature Communications 11(1):4423 (2020)
Allele C
OR 1.34
p 8.0e-10
N 475,312
Large GWAS
European
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Research that mentions this SNP (1)

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Telomere structure and maintenance gene variants and risk of five cancer types
Meta-analysisN=136,308Sara Karami et al.(2016)· International Journal of Cancer

Meta-analysis of 204,993 SNPs in 22 telomere structure and maintenance genes identified 13 independent SNPs associated with colorectal, breast, prostate, ovarian, and lung cancer risk in 61,851 cases and 74,457 controls of European descent. Seven of these associations were novel findings. Notable findings include rs12655062 (positively associated with prostate cancer, inversely with colorectal/ovarian cancers), rs75316749 (positively associated with colorectal, breast, ovarian, and lung cancers), rs974404 and rs12144215 in DCLRE1B (inversely associated with prostate/lung and colorectal/breast/ovarian cancers respectively), rs34978822 in RTEL1 (inversely associated with prostate/lung cancers), and rs116895242 near POT1 (inversely associated with colorectal, ovarian, and lung cancers).

Traits studied:Aggressive prostate cancerBladder cancerBreast cancerChronic lymphatic leukemiaChronic lymphocytic leukemiaColorectal cancerEndometrial cancerEndometrioid ovarian cancerEsophageal cancerEstrogen receptor negative breast cancerGastric cancerGlioblastomaGliomaGraves diseaseHigh-grade gliomaLung adenocarcinomaLung cancerMelanomaMultiple myelomaNasopharyngeal cancerOsteosarcomaOvarian cancerPancreatic cancerProstate cancerRenal cancerRheumatoid arthritisSerous ovarian cancerSkin cancerSquamous lung cancerTesticular cancer
PubMedDOIMetascience 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]

View all RTEL1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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