rs174538

This is a regulatory region variant variant in the TMEM258 gene.

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GWAS Catalog Trait Associations (37)

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

eicosapentaenoic acid measurement

Lemaitre RN et al. “Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.” Plos Genetics 7(7):e1002193 (2011)
Allele A
OR —
β 0.080
p 5.0e-58
N 8,866
Meta-analysisMajor Consortium Study
European

blood glucose amount

Kim YJ et al. “The contribution of common and rare genetic variants to variation in metabolic traits in 288,137 East Asians.” Nature Communications 13(1):6642 (2022)
Allele A
OR 0.04
p 3.0e-24
N 288,127
Large GWAS
East Asian
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Research that mentions this SNP (2)

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A NEIL1 single nucleotide polymorphism (rs4462560) predicts the risk of radiation‐induced toxicities in esophageal cancer patients treated with definitive radiotherapy
AssociationN=187Yun Chen et al.(2013)· Cancer

A case-only study of 187 Chinese esophageal squamous cell carcinoma (ESCC) patients receiving definitive radiotherapy found that NEIL1 rs4462560 GC/CC genotypes were associated with significantly lower risk of grade ≥2 acute radiation-induced esophageal toxicity (RIET) (HR=0.421, p=0.017) and grade ≥2 radiation pneumonitis (RP) (HR=0.392, p=0.037) compared with GG genotype, but no association with overall survival. Five other SNPs in FEN1 and hOGG1 genes showed no significant associations.

Traits studied:Esophageal squamous cell carcinomaOverall survivalRadiation pneumonitis (RP)Radiation-induced esophageal toxicity (RIET)
PubMedDOIMetascience Observatory
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FunctionalFEN1polymorphisms are associated with DNA damage levels and lung cancer risk
AssociationN=288Ming Yang et al.(2009)· Human Mutation

This cross-sectional study of 288 coke oven workers examined gene-environment interactions between FEN1 rs174538 polymorphism and polycyclic aromatic hydrocarbon (PAH) exposure, measured by urinary 1-OH-pyrene levels, on DNA damage in EGFR gene exons 19 and 21. The study found significant linear associations between PAH exposure and EGFR exon damage (P trend < 0.001 for both exons), which were modified by FEN1 rs174538 genotype—the associations were significant only in GA+AA carriers (P < 0.001) but not in GG carriers, suggesting genetic susceptibility influences PAH-induced DNA damage.

Traits studied:DNA damage (BRCA1 exon 20 damage index)DNA damage (EGFR exon 19 damage index)DNA damage (EGFR exon 21 damage index)Lung cancer riskPolycyclic aromatic hydrocarbon (PAH) exposure
PubMedDOIMetascience Observatory

About TMEM258

Predicted to enable oligosaccharyltransferase complex binding activity. Involved in protein N-linked glycosylation. Located in endoplasmic reticulum and membrane. Part of oligosaccharyltransferase complex A and oligosaccharyltransferase complex B. [provided by Alliance of Genome Resources, Jul 2025]

View all TMEM258 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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