rs2295080

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

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GWAS Catalog Trait Associations (2)

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

body weight

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele T

OR 0.02

p 3.0e-27

N 928,679

Large GWAS

multi-ancestry

Insulin resistance

Williamson A et al. “Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake.” Nature Genetics 55(6):973-983 (2023)

Allele T

OR 0.04

p 1.0e-8

N 53,657

Large GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters2 publications

View on ClinVar →

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Research that mentions this SNP (1)

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Roles of genetic variants in the PI3K and RAS/RAF pathways in susceptibility to endometrial cancer and clinical outcomes

AssociationN=345Li-E Wang et al.(2012)· Journal of Cancer Research and Clinical Oncology

Case-control study (115 endometrial cancer patients, 230 controls) examining genetic variants in PI3K/PTEN/AKT/mTOR and RAS/RAF/MEK/ERK pathways. Key findings: PIK3CA rs6443624 and rs9838411 decreased risk (OR 0.62 and 0.59), AKT1 rs2498801 increased risk (OR 1.94), while PIK3CA rs6443624 and KRAS rs7312175 affected recurrence (HR 5.22 and 3.82 respectively).

Traits studied:endometrial cancerendometrial cancer recurrenceendometrial cancer riskendometrial cancer survival

PubMed DOI Metascience Observatory

About MTOR

The protein encoded by this gene belongs to a family of phosphatidylinositol kinase-related kinases. These kinases mediate cellular responses to stresses such as DNA damage and nutrient deprivation. This kinase is a component of two distinct complexes, mTORC1, which controls protein synthesis, cell growth and proliferation, and mTORC2, which is a regulator of the actin cytoskeleton, and promotes cell survival and cell cycle progression. This protein acts as the target for the cell-cycle arrest and immunosuppressive effects of the FKBP12-rapamycin complex. Inhibitors of mTOR are used in organ transplants as immunosuppressants, and are being evaluated for their therapeutic potential in SARS-CoV-2 infections. Mutations in this gene are associated with Smith-Kingsmore syndrome and somatic focal cortical dysplasia type II. The ANGPTL7 gene is located in an intron of this gene. [provided by RefSeq, Aug 2020]