rs1410127
This is a regulatory region variant variant in the OPHN1 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
coronary artery disease
Tcheandjieu C et al. “Large-scale genome-wide association study of coronary artery disease in genetically diverse populations.” Nature Medicine 28(8):1679-1692 (2022)
Allele T
OR 0.02
p 1.0e-9
N 1,077,578
Large GWAS
multi-ancestry
About OPHN1
This gene encodes a Rho-GTPase-activating protein that promotes GTP hydrolysis of Rho subfamily members. Rho proteins are important mediators of intracellular signal transduction, which affects cell migration and cell morphogenesis. Mutations in this gene are responsible for OPHN1-related X-linked cognitive disability with cerebellar hypoplasia and distinctive facial dysmorhphism. [provided by RefSeq, Jul 2008]
View all OPHN1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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