rs11190604

This is a intron variant variant in the HIF1AN gene.

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GWAS Catalog Trait Associations (1)

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

fatty acid amount

Wu JH et al. “Genome-wide association study identifies novel loci associated with concentrations of four plasma phospholipid fatty acids in the de novo lipogenesis pathway: results from the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium.” Circulation. Cardiovascular Genetics 6(2):171-83 (2013)

Allele A

OR —

β 0.024

p 6.0e-9

N 8,961

Major Consortium StudyLarge GWAS

European

About HIF1AN

Enables several functions, including 2-oxoglutarate-dependent dioxygenase activity; NF-kappaB binding activity; and transition metal ion binding activity. Involved in negative regulation of Notch signaling pathway and positive regulation of myoblast differentiation. Located in cytosol; nucleoplasm; and perinuclear region of cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

View all HIF1AN variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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