rs3200401

This is a coding sequence variant variant in the MALAT1 gene.

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GWAS Catalog Trait Associations (2)

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

periodontitis

Yu YH et al. “Candidate loci shared among periodontal disease, diabetes and bone density.” Frontiers in Endocrinology 13:1016373 (2022)
Allele T
OR 0.03
p 9.0e-9
N 506,596
Large GWAS

body mass index

Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)
Allele T
OR 0.09
p 1.0e-8
N 283,749
Major Consortium StudyLarge GWAS
European

About MALAT1

This gene produces a precursor transcript from which a long non-coding RNA is derived by RNase P cleavage of a tRNA-like small ncRNA (known as mascRNA) from its 3' end. The resultant mature transcript lacks a canonical poly(A) tail but is instead stabilized by a 3' triple helical structure. This transcript is retained in the nucleus where it is thought to form molecular scaffolds for ribonucleoprotein complexes. It may act as a transcriptional regulator for numerous genes, including some genes involved in cancer metastasis and cell migration, and it is involved in cell cycle regulation. Its upregulation in multiple cancerous tissues has been associated with the proliferation and metastasis of tumor cells. [provided by RefSeq, Mar 2015]

View all MALAT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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