rs7982677

This variant is located in the GPC5 gene.

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GWAS Catalog Trait Associations (1)

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

Tetralogy of Fallot

Cordell HJ et al. “Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.” Human Molecular Genetics 22(7):1473-81 (2013)

Allele A

OR 1.29

p 3.0e-9

N 5,994

Large GWAS

European

About GPC5

Cell surface heparan sulfate proteoglycans are composed of a membrane-associated protein core substituted with a variable number of heparan sulfate chains. Members of the glypican-related integral membrane proteoglycan family (GRIPS) contain a core protein anchored to the cytoplasmic membrane via a glycosyl phosphatidylinositol linkage. These proteins may play a role in the control of cell division and growth regulation. [provided by RefSeq, Jul 2008]

View all GPC5 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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