rs78540526

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GWAS Catalog Trait Associations (3)

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

breast carcinoma

Michailidou K et al. “Association analysis identifies 65 new breast cancer risk loci.” Nature 551(7678):92-94 (2017)
Allele T
OR 0.28
p 2.0e-131
N 139,274
Large GWAS
multi-ancestry
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.30
p 1.0e-40
N 337,280
Large GWAS
multi-ancestry
Michailidou K et al. “Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.” Nature Genetics 47(4):373-80 (2015)
Allele T
OR 1.34
p 2.0e-86
N 33,832
Large GWAS
European

breast cancer

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele T
OR 0.27
p 5.0e-25
N 175,905
Large GWAS
European

male breast carcinoma

Maguire S et al. “Common Susceptibility Loci for Male Breast Cancer.” Journal of the National Cancer Institute 113(4):453-461 (2021)
Allele T
OR 1.61
p 1.0e-11
N 5,000
Large GWAS
European
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Research that mentions this SNP (1)

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A candidate functional SNP rs7074440 in TCF7L2 alters gene expression through C‐FOS in hepatocytes
FunctionalXianying Piao et al.(2018)· FEBS Letters

This functional genomic study identified 16 transcription factor binding-disrupting SNPs across reported bipolar disorder (BD) GWAS loci and elucidated their regulatory mechanisms. Using eQTL analysis, CRISPR/Cas9 editing, and functional assays, the authors demonstrated that rs10896081 disrupts PBX3 binding to regulate PACS1 and YIF1A expression, and that rs3862386 similarly regulates PACS1 expression. PACS1 overexpression affected dendritic spine density in neurons, suggesting a mechanistic link between these functional SNPs and BD risk through regulation of genes involved in synaptic function.

Traits studied:Bipolar disorder
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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