rs11532322

This variant is located in the MTRFR 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

Ripke S et al. “Genome-wide association analysis identifies 13 new risk loci for schizophrenia.” Nature Genetics 45(10):1150-9 (2013)

Allele A

OR 1.09

p 2.0e-8

N 32,143

Large GWAS

multi-ancestry

About MTRFR

This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

View all MTRFR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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