rs61750370

This is a variant in the GMPS gene that changes a tyrosine to an serine.

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GWAS Catalog Trait Associations (1)

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

blood metabolite level

Rhee EP et al. “An exome array study of the plasma metabolome.” Nature Communications 7:12360 (2016)

Allele C

OR 0.78

p 9.0e-10

N 2,076

Large GWAS

European

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ClinVar annotation

Benign★★★☆

2 submitters2 publications

View on ClinVar →

About GMPS

In the de novo synthesis of purine nucleotides, IMP is the branch point metabolite at which point the pathway diverges to the synthesis of either guanine or adenine nucleotides. In the guanine nucleotide pathway, there are 2 enzymes involved in converting IMP to GMP, namely IMP dehydrogenase (IMPD1), which catalyzes the oxidation of IMP to XMP, and GMP synthetase, which catalyzes the amination of XMP to GMP. [provided by RefSeq, Jul 2008]

View all GMPS variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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