rs9795522

This is a upstream gene variant variant 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.

uterine fibroid

Kim J et al. “Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.” Nature Communications 16(1):2273 (2025)

Allele A

OR 0.09

p 3.0e-9

N 253,542

Meta-analysisLarge GWAS

East Asian, Central Asian, South Asian

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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