rs79043147

This is a intron variant variant in the HTRA1 gene.

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GWAS Catalog Trait Associations (2)

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

lean body mass

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 0.02

p 4.0e-10

N 337,739

Large GWAS

European

small vessel stroke

Mishra A et al. “Stroke genetics informs drug discovery and risk prediction across ancestries.” Nature 611(7934):115-123 (2022)

Allele T

OR 1.19

p 3.0e-8

N 1,241,619

Large GWAS

European

About HTRA1

This gene encodes a member of the trypsin family of serine proteases. This protein is a secreted enzyme that is proposed to regulate the availability of insulin-like growth factors (IGFs) by cleaving IGF-binding proteins. It has also been suggested to be a regulator of cell growth. Variations in the promoter region of this gene are the cause of susceptibility to age-related macular degeneration type 7. [provided by RefSeq, Jul 2008]

View all HTRA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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