rs147556927
This is a synonymous variant in the GMPR2 gene — it does not change the protein's amino acid sequence.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of GMP reductase 2 in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele C
OR 0.45
p 6.0e-25
N 47,745
Large GWAS
European
chromosome, telomeric region length
Burren OS et al. “Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.” Nature Genetics 56(9):1832-1840 (2024)
Allele T
OR 0.09
p 1.0e-9
N 438,351
Major Consortium StudyLarge GWAS
European
About GMPR2
This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of guanosine monophosphate (GMP) to inosine monophosphate (IMP). The protein also functions in the re-utilization of free intracellular bases and purine nucleosides. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2017]
View all GMPR2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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