rs645383

This is a intron variant variant in the AGO1 gene.

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GWAS Catalog Trait Associations (1)

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

schizophrenia

Trubetskoy V et al. “Mapping genomic loci implicates genes and synaptic biology in schizophrenia.” Nature 604(7906):502-508 (2022)
Allele C
OR 1.07
p 4.0e-10
N 175,799
Large GWAS
multi-ancestry

About AGO1

This gene encodes a member of the argonaute family of proteins, which associate with small RNAs and have important roles in RNA interference (RNAi) and RNA silencing. This protein binds to microRNAs (miRNAs) or small interfering RNAs (siRNAs) and represses translation of mRNAs that are complementary to them. It is also involved in transcriptional gene silencing (TGS) of promoter regions that are complementary to bound short antigene RNAs (agRNAs), as well as in the degradation of miRNA-bound mRNA targets. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A recent study showed this gene to be an authentic stop codon readthrough target, and that its mRNA could give rise to an additional C-terminally extended isoform by use of an alternative in-frame translation termination codon. [provided by RefSeq, Nov 2015]

View all AGO1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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