rs1046080

This is a variant in the PRRC2A gene that changes a threonine to an lysine.

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GWAS Catalog Trait Associations (7)

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

body mass index

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele A
OR 0.03
p 2.0e-22
N 342,566
Large GWAS
European

amount of iron in brain

Casanova F et al. “MRI-derived brain iron, grey matter volume, and risk of dementia and Parkinson's disease: Observational and genetic analysis in the UK Biobank cohort.” Neurobiology of Disease 197:106539 (2024)
Allele C
OR 0.06
p 1.0e-15
N 39,533
Major Consortium StudyLarge GWAS
European

X-11444-to-X-11470 ratio

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR 0.03
p 1.0e-14
N 5,259
Large GWAS
European

body fat percentage

Martin S et al. “Genetic Evidence for Different Adiposity Phenotypes and Their Opposing Influences on Ectopic Fat and Risk of Cardiometabolic Disease.” Diabetes 70(8):1843-1856 (2021)
Allele A
OR —
β 0.016
p 4.0e-22
N 442,278
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.02
p 5.0e-22
N 394,642
Large GWAS
European
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ClinVar annotation

Benign
1 submitter

PRRC2A-related disorder

View on ClinVar →

About PRRC2A

A cluster of genes, BAT1-BAT5, has been localized in the vicinity of the genes for TNF alpha and TNF beta. These genes are all within the human major histocompatibility complex class III region. This gene has microsatellite repeats which are associated with the age-at-onset of insulin-dependent diabetes mellitus (IDDM) and possibly thought to be involved with the inflammatory process of pancreatic beta-cell destruction during the development of IDDM. This gene is also a candidate gene for the development of rheumatoid arthritis. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

View all PRRC2A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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