rs56083805

This is a downstream gene variant variant in the HSPA4 gene.

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GWAS Catalog Trait Associations (1)

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

Uterine leiomyoma, breast carcinoma

Wu X et al. “Investigating the shared genetic architecture of uterine leiomyoma and breast cancer: A genome-wide cross-trait analysis.” American Journal of Human Genetics 109(7):1272-1285 (2022)
Allele T
OR —
p 3.0e-11
N 550,152
Large GWAS
European

About HSPA4

Predicted to enable adenyl-nucleotide exchange factor activity. Involved in chaperone-mediated protein complex assembly and protein insertion into mitochondrial outer membrane. Located in cytosol and extracellular exosome. Implicated in Chagas disease. Biomarker of chronic obstructive pulmonary disease; rheumatoid arthritis; type 2 diabetes mellitus; and ulcerative colitis. [provided by Alliance of Genome Resources, Apr 2025]

View all HSPA4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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