rs6670563

This is a regulatory region variant variant in the ARHGEF11 gene.

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GWAS Catalog Trait Associations (1)

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

Thrombocytopenia

Yang Z et al. “Genetic basis of pregnancy-associated decreased platelet counts and gestational thrombocytopenia.” Blood 143(15):1528-1538 (2024)

Allele T

OR 1.26

p 4.0e-46

N 96,432

Large GWAS

East Asian

About ARHGEF11

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

View all ARHGEF11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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