rs75485498
This is a regulatory region variant variant in the RNF115 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.
Moyamoya disease
Jeon JP et al. “Genome-wide association study identifies novel susceptibilities to adult moyamoya disease.” Journal of Human Genetics 68(10):713-720 (2023)
Allele A
OR 30.22
p 1.0e-19
N 512
Small GWAS
East Asian
About RNF115
Enables ubiquitin protein ligase activity. Involved in negative regulation of signal transduction; protein ubiquitination; and ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway. Is active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Jul 2025]
View all RNF115 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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