rs743580

This variant is located in the PML gene.

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GWAS Catalog Trait Associations (3)

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

insomnia

Watanabe K et al. “Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways.” Nature Genetics 54(8):1125-1132 (2022)
Allele A
OR 0.01
p 8.0e-11
N 2,365,010
Meta-analysisLarge GWAS
European

physical activity measurement

Klimentidis YC et al. “Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE.” International Journal of Obesity (2005) 42(6):1161-1176 (2018)
Allele A
OR —
β 0.025
p 1.0e-9
N 90,667
Major Consortium StudyLarge GWAS
European

leukocyte quantity

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.01
p 2.0e-9
N 408,112
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters2 publications

not specified; PML-related disorder; not provided

View on ClinVar →

About PML

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. This phosphoprotein localizes to nuclear bodies where it functions as a transcription factor and tumor suppressor. Its expression is cell-cycle related and it regulates the p53 response to oncogenic signals. The gene is often involved in the translocation with the retinoic acid receptor alpha gene associated with acute promyelocytic leukemia (APL). Extensive alternative splicing of this gene results in several variations of the protein's central and C-terminal regions; all variants encode the same N-terminus. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

View all PML variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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