rs7040561

This is a intron variant variant in the PBX3 gene.

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GWAS Catalog Trait Associations (5)

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

brain attribute

Bahrami S et al. “The genetic landscape of basal ganglia and implications for common brain disorders.” Nature Communications 15(1):8476 (2024)
Allele A
OR —
p 1.0e-21
N 34,794
Large GWAS
European

white matter microstructure measurement

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele A
OR 0.10
p 5.0e-13
N 20,859
Major Consortium StudyLarge GWAS
European

brain volume

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele A
OR 0.09
p 8.0e-11
N 21,282
Major Consortium StudyLarge GWAS
European

caudate nucleus volume

Satizabal CL et al. “Genetic architecture of subcortical brain structures in 38,851 individuals.” Nature Genetics 51(11):1624-1636 (2019)
Allele A
OR 6.18
p 7.0e-10
N 37,741
Large GWAS
multi-ancestry

white matter integrity

Smith SM et al. “An expanded set of genome-wide association studies of brain imaging phenotypes in UK Biobank.” Nature Neuroscience 24(5):737-745 (2021)
Allele A
OR 0.08
p 3.0e-9
N 20,860
Major Consortium StudyLarge GWAS
European

About PBX3

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific. Predicted to be involved in several processes, including embryonic organ development; eye development; and nervous system development. Predicted to act upstream of or within several processes, including adult locomotory behavior; dorsal spinal cord development; and regulation of respiratory gaseous exchange by nervous system process. Predicted to be located in chromatin. Predicted to be part of transcription regulator complex. Biomarker of esophagus squamous cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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