rs144723593

This is a upstream gene variant variant in the ZNF398 gene.

GWAS Catalog Trait Associations (1)

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

retinal degeneration

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 2.39
p 4.0e-12
N 630,606
Major Consortium StudyLarge GWAS
multi-ancestry

About ZNF398

This gene encodes a member of the Kruppel family of C2H2-type zinc-finger transcription factor proteins. The encoded protein acts as a transcriptional activator. Two transcript variants encoding distinct isoforms have been identified for this gene. Other transcript variants have been described, but their full length sequence has not been determined. [provided by RefSeq, Jul 2008]

View all ZNF398 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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