rs17880847

This variant is located in the TP53 gene.

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GWAS Catalog Trait Associations (2)

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

testosterone measurement

Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)

Allele A

OR 0.80

p 8.0e-26

N 148,248

Major Consortium StudyLarge GWAS

European

sex hormone-binding globulin measurement

Harrison S et al. “Testosterone and socioeconomic position: Mendelian randomization in 306,248 men and women in UK Biobank.” Science Advances 7(31) (2021)

Allele A

OR 5.81

p 1.0e-20

N 158,000

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Likely Benign★★★☆

8 submitters1 publication

not provided; Hereditary breast ovarian cancer syndrome; not specified; Hereditary cancer-predisposing syndrome; Li-Fraumeni syndrome 1

View on ClinVar →

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]