rs6741819

This is a regulatory region variant variant in the RNF144A gene.

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GWAS Catalog Trait Associations (1)

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

brain aneurysm

Hong EP et al. “Genomic Variations in Susceptibility to Intracranial Aneurysm in the Korean Population.” Journal of Clinical Medicine 8(2) (2019)

Allele C

OR 4.00

p 4.0e-14

N 546

Small GWAS

East Asian

About RNF144A

This gene encodes a member of a family of RING finger domain-containing E3 ubiquitin ligases that also includes parkin and parc. The expression of this gene is induced by DNA damage. The encoded protein interacts with the cytoplasmic DNA-dependent protein kinase, catalytic subunit (DNA-PKcs) and promotes its degradation through ubiquitination. The orthologous mouse protein has been shown to interact with a ubiquitin-conjugating enzyme involved in embryonic development. [provided by RefSeq, Mar 2017]

View all RNF144A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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