rs4790395

This variant is located in the RAP1GAP2 gene.

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GWAS Catalog Trait Associations (1)

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

complement factor H-related protein 3 measurement

Cipriani V et al. “Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations.” American Journal of Human Genetics 108(8):1385-1400 (2021)

Allele T

OR 6.50

p 4.0e-8

N 252

Small GWAS

European

About RAP1GAP2

This gene encodes a GTPase-activating protein that activates the small guanine-nucleotide-binding protein Rap1 in platelets. The protein interacts with synaptotagmin-like protein 1 and Rab27 and regulates secretion of dense granules from platelets at sites of endothelial damage. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

View all RAP1GAP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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