rs983318

This is a intron variant variant in the LINC00673 gene.

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GWAS Catalog Trait Associations (2)

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

colorectal cancer

Fernandez-Rozadilla C et al. “Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries.” Nature Genetics 55(1):89-99 (2023)
Allele A
OR 0.06
p 7.0e-12
N 254,791
Large GWAS
multi-ancestry
Tian J et al. “Developing an optimal stratification model for colorectal cancer screening and reducing racial disparities in multi-center population-based studies.” Genome Medicine 16(1):81 (2024)
Allele A
OR —
β 0.061
p 1.0e-9
N 839,703
Large GWAS
multi-ancestry

colorectal cancer, colorectal adenoma

Huyghe JR et al. “Discovery of common and rare genetic risk variants for colorectal cancer.” Nature Genetics 51(1):76-87 (2019)
Allele A
OR 1.06
p 6.0e-9
N 125,478
Large GWAS
multi-ancestry

About LINC00673

This gene produces a long non-protein coding RNA that is involved in the regulation of gene expression during tumor progression. This transcript can promote cell proliferation in gastric cancer through interaction with enhancer of zeste 2 and other epigenetic suppressors of gene expression, thereby downregulating target genes including Kruppel like factors 2 and 4. This transcript may also act as a tumor suppressor by promoting interaction between protein tyrosine phosphatase, non-receptor type 11 (Ptpn11) and ubiquitin ligase, resulting in degradation of Ptpn11 and lowered oncogenic signalling. Naturally-occurring variation at this locus results in the formation of a binding site for miR-1231, which negatively regulates activity of this transcript. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2017]

View all LINC00673 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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