rs2075660

This is a regulatory region variant variant in the SIPA1 gene.

GWAS Catalog Trait Associations (1)

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

gut microbiome measurement, tobacco smoke exposure measurement

Stickley SA et al. Gene-by-environment interactions modulate the infant gut microbiota in asthma and atopy. The Journal of Allergy and Clinical Immunology 156(2):433-448 (2025)
Allele A
OR 1.65
p 4.0e-8
N 688
Small GWAS
multi-ancestry

About SIPA1

The product of this gene is a mitogen induced GTPase activating protein (GAP). It exhibits a specific GAP activity for Ras-related regulatory proteins Rap1 and Rap2, but not for Ran or other small GTPases. This protein may also hamper mitogen-induced cell cycle progression when abnormally or prematurely expressed. It is localized to the perinuclear region. Two alternatively spliced variants encoding the same isoform have been characterized to date. [provided by RefSeq, Jul 2008]

View all SIPA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…