rs2282502

This is a synonymous variant in the RHOD gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (1)

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

forced expiratory volume

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)
Allele C
OR 0.01
p 9.0e-15
N 373,397
Large GWAS
European
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Research that mentions this SNP (1)

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Investigation of the association between Rho/Rho-kinase gene polymorphisms and systemic sclerosis
AssociationN=641Yavuz Pehlivan et al.(2016)· Rheumatology International

A multicenter case-control study investigating the association between Rho/Rho-kinase gene polymorphisms and systemic sclerosis (SSc) in a Turkish population. The study of 339 SSc patients and 302 healthy controls identified significant associations with rs35996865 (ROCK1, p=0.0005), rs10178332 (ROCK2, p<0.001), rs2177268 (RhoA, p<0.001), and rs11102522 and rs11538960 (RhoC, p<0.001), suggesting these SNPs are important genetic risk factors for SSc development.

Traits studied:Cardiac involvementGastrointestinal system involvementPulmonary arterial hypertensionPulmonary involvementRaynaud's phenomenonRenal involvementSystemic sclerosis
PubMedDOIMetascience Observatory

About RHOD

Ras homolog, or Rho, proteins interact with protein kinases and may serve as targets for activated GTPase. They play a critical role in muscle differentiation. The protein encoded by this gene binds GTP and is a member of the small GTPase superfamily. It is involved in endosome dynamics and reorganization of the actin cytoskeleton, and it may coordinate membrane transport with the function of the cytoskeleton. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

View all RHOD variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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