rs4733781

This is a regulatory region variant variant in the ASAP1 gene.

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GWAS Catalog Trait Associations (1)

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

tuberculosis

Curtis J et al. “Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration.” Nature Genetics 47(5):523-527 (2015)

Allele A

OR —

p 4.0e-12

N 11,137

Large GWAS

multi-ancestry

About ASAP1

This gene encodes an ADP-ribosylation factor (ARF) GTPase-activating protein. The GTPase-activating activity is stimulated by phosphatidylinositol 4,5-biphosphate (PIP2), and is greater towards ARF1 and ARF5, and lesser for ARF6. This gene maybe involved in regulation of membrane trafficking and cytoskeleton remodeling. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

View all ASAP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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