rs5742915

This is a protein-altering variant in the PML gene.

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GWAS Catalog Trait Associations (23)

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

health trait

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele T
OR 0.01
p 1.0e-42
N 405,979
Large GWAS
European

appendicular lean mass

Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele T
OR 0.02
p 9.0e-39
N 450,243
Major Consortium StudyLarge GWAS
European

chromosome, telomeric region length

Burren OS et al. “Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.” Nature Genetics 56(9):1832-1840 (2024)
Allele T
OR 0.02
p 2.0e-35
N 438,351
Major Consortium StudyLarge GWAS
European
Liu WS et al. “Whole exome sequencing analyses reveal novel genes in telomere length and their biomedical implications.” Geroscience 46(5):5365-5385 (2024)
Allele T
OR 0.02
p 2.0e-14
N 327,790
Large GWAS
European

IGF-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.02
p 6.0e-30
N 394,642
Large GWAS
European

grip strength measurement

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele T
OR 0.01
p 1.0e-16
N 404,112
Large GWAS
European

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele C
OR 0.02
p 1.0e-15
N 186,825
Major Consortium StudyLarge GWAS
European

leukocyte quantity

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.02
p 5.0e-15
N 381,267
Major Consortium StudyLarge GWAS
European

alpha-fetoprotein level

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.04
p 9.0e-15
N 47,745
Large GWAS
European

osteitis deformans

Albagha OM et al. “Genome-wide association identifies three new susceptibility loci for Paget's disease of bone.” Nature Genetics 43(7):685-9 (2011)
Allele C
OR 1.34
p 2.0e-14
N 3,440
Large GWAS
European

whole body water mass

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.01
p 5.0e-13
N 394,642
Large GWAS
European
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Research that mentions this SNP (1)

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Identification of rare genetic variants in novel loci associated with Paget’s disease of bone
AssociationN=537Mariejka Beauregard et al.(2014)· Human Genetics

This association study identified 126 rare genetic variants in candidate genes within five novel Paget's disease of bone (PDB)-associated loci in a French-Canadian population (240 cases, 297 controls). The study replicated associations with common variants rs484959, rs499345, rs10494112 (1p13 locus) and rs5742915 (15q24 locus). Two rare variants showed marginal association with PDB: rs62620995 (p.Leu397Phe in TM7SF4, p=0.09, RR=2.06) and rs35500845 (c.372+259a>G in CTHRC1, p=0.046, RR=0.65).

Traits studied:Paget's disease of bone
PubMedDOIMetascience Observatory

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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