rs12270374

This is a intron variant variant in the RRAS2 gene.

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GWAS Catalog Trait Associations (1)

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

hypertrophic cardiomyopathy

Tadros R et al. “Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.” Nature Genetics 57(3):530-538 (2025)

Allele C

OR 0.16

p 2.0e-14

N 28,106

Large GWAS

European, African unspecified, Hispanic or Latin American, East Asian, South Asian, NR

About RRAS2

This gene encodes a member of the R-Ras subfamily of Ras-like small GTPases. The encoded protein associates with the plasma membrane and may function as a signal transducer. This protein may play an important role in activating signal transduction pathways that control cell proliferation. Mutations in this gene are associated with the growth of certain tumors. Pseudogenes of this gene are found on chromosomes 1 and 2. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Apr 2010]

View all RRAS2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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