rs3761124
This variant is located in the RTEL1 gene.
▶Research that mentions this SNP (1)
▶A functional variant on 20q13.33 related to glioma risk alters enhancer activity and modulates expression of multiple genesFunctionalN=646Ali MW et al.(2021)· Human Mutation
This functional study identifies rs3761124 as a causal variant on 20q13.33 that modulates glioma risk through enhancer activity and altered expression of multiple genes, particularly STMN3. Using luciferase assays, CRISPR-Cas9 editing, and eQTL analysis across 646 individuals from brain tissue and tumor cohorts, the authors demonstrate that rs3761124 has allele-specific effects on enhancer activity and consistently associates with STMN3 expression. Colocalization analysis (PP4=0.82) supports rs3761124 as the causal variant underlying the GWAS signal at this locus.
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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