rs2232831

This is a regulatory region variant variant in the RASD1 gene.

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GWAS Catalog Trait Associations (1)

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

chronotype measurement

Jones SE et al. “Genome-wide association analyses of chronotype in 697,828 individuals provides insights into circadian rhythms.” Nature Communications 10(1):343 (2019)
Allele A
OR 0.02
p 2.0e-21
N 449,734
Large GWAS
European

About RASD1

This gene encodes a member of the Ras superfamily of small GTPases and is induced by dexamethasone. The encoded protein is an activator of G-protein signaling and acts as a direct nucleotide exchange factor for Gi-Go proteins. This protein interacts with the neuronal nitric oxide adaptor protein CAPON, and a nuclear adaptor protein FE65, which interacts with the Alzheimer's disease amyloid precursor protein. This gene may play a role in dexamethasone-induced alterations in cell morphology, growth and cell-extracellular matrix interactions. Epigenetic inactivation of this gene is closely correlated with resistance to dexamethasone in multiple myeloma cells. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2011]

View all RASD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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