rs146771786

This is a protein-altering variant in the GMPR gene.

GWAS Catalog Trait Associations (8)

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

level of GMP reductase 1 in blood

Allele A
OR 1.80
p 6.0e-114
N 47,745
Large GWAS
European

mean corpuscular hemoglobin

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.42
p 4.0e-53
N 408,112
Large GWAS
European
Allele A
OR 0.33
p 1.0e-45
N 394,642
Large GWAS
European
Allele A
OR 0.37
p 2.0e-12
N 172,332
Large GWAS
European

reticulocyte amount

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.38
p 1.0e-40
N 408,112
Large GWAS
European
Allele A
OR 0.28
p 2.0e-31
N 394,642
Large GWAS
European

erythrocyte volume

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.35
p 4.0e-36
N 408,112
Large GWAS
European
Allele A
OR 0.28
p 3.0e-32
N 394,642
Large GWAS
European

reticulocyte count

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.34
p 1.0e-33
N 408,112
Large GWAS
European
Allele A
OR 0.26
p 5.0e-26
N 394,642
Large GWAS
European
Allele A
OR 0.34
p 1.0e-10
N 170,690
Large GWAS
European

mean corpuscular hemoglobin concentration

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.23
p 1.0e-19
N 408,112
Large GWAS
European

Red cell distribution width

Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.21
p 1.0e-14
N 408,112
Large GWAS
European
Allele A
OR 0.18
p 2.0e-13
N 394,642
Large GWAS
European

level of GMP reductase 2 in blood

Allele A
OR 0.59
p 2.0e-14
N 47,745
Large GWAS
European

About GMPR

This gene encodes an enzyme that catalyzes the irreversible and NADPH-dependent reductive deamination of GMP to IMP. The protein also functions in the re-utilization of free intracellular bases and purine nucleosides.[provided by RefSeq, Oct 2009]

View all GMPR variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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