rs201753350

This variant is located in the TP53 gene.

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GWAS Catalog Trait Associations (1)

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

mosaic loss of chromosome Y measurement

Terao C et al. “GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation.” Nature Communications 10(1):4719 (2019)
Allele T
OR 0.15
p 1.0e-8
N 95,380
Large GWAS
East Asian
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ClinVar annotation

Conflicting Classifications
18 submitters23 publications

Hereditary cancer-predisposing syndrome; not specified; Li-Fraumeni syndrome; Li-Fraumeni syndrome 1; not provided; Hereditary breast ovarian cancer syndrome; Breast and/or ovarian cancer; TP53-related disorder

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About TP53

This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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