rs56076449

This is a regulatory region variant variant in the HSPA4 gene.

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GWAS Catalog Trait Associations (4)

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

triglyceride measurement

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 1.0e-11
N 558,637
Major Consortium StudyLarge GWAS
multi-ancestry
de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele T
OR —
β 0.013
p 7.0e-9
N 71,394
Large GWAS
multi-ancestry

triglyceride measurement, alcohol drinking

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele G
OR —
p 3.0e-11
N 127,326
Large GWAS
multi-ancestry

triglyceride measurement, alcohol consumption quality

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele G
OR —
p 9.0e-11
N 71,394
Large GWAS
multi-ancestry

alcohol consumption quality, high density lipoprotein cholesterol measurement

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele G
OR —
p 3.0e-8
N 71,394
Large GWAS
multi-ancestry

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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