rs2230774

This is a variant in the ROCK2 gene that changes a threonine to an asparagine.

▶

GWAS Catalog Trait Associations (1)

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

lymphocyte count

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.01

p 2.0e-13

N 394,642

Large GWAS

European

▶

ClinVar annotation

Benign★☆☆☆

2 submitters2 publications

not specified

View on ClinVar →

▶

Research that mentions this SNP (1)

▶

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

PubMed DOI Metascience Observatory

About ROCK2

The protein encoded by this gene is a serine/threonine kinase that regulates cytokinesis, smooth muscle contraction, the formation of actin stress fibers and focal adhesions, and the activation of the c-fos serum response element. This protein, which is an isozyme of ROCK1 is a target for the small GTPase Rho. [provided by RefSeq, Jul 2008]