rs34121654

This variant is located in the PYCR3 gene.

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GWAS Catalog Trait Associations (1)

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

X-23639 measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)

Allele T

OR 0.73

p 3.0e-23

N 6,136

Large GWAS

European

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ClinVar annotation

Likely Benign★☆☆☆

1 submitter

View on ClinVar →

About PYCR3

This gene encodes a protein that belongs to the pyrroline-5-carboxylate reductase family of enzymes. Members of this family catalyze the final step in proline biosynthesis, converting pyrroline-5-carboxylate to proline. Glutamate and ornithine are precursors in the synthesis of proline. The protein encoded by this gene is a cytoplasmic enzyme involved in the biosynthesis of proline from ornithine. [provided by RefSeq, Aug 2016]

View all PYCR3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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