rs7765828

This is a downstream gene variant variant in the GMPR gene.

GWAS Catalog Trait Associations (10)

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

erythrocyte volume

Allele G
OR
p 4.0e-152
N 696,882
Large GWAS
multi-ancestry
Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.05
p 6.0e-47
N 583,955
Major Consortium StudyLarge GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.05
p 1.0e-90
N 480,305
Large GWAS
multi-ancestry

mean corpuscular hemoglobin

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.06
p 3.0e-139
N 478,500
Large GWAS
multi-ancestry
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.04
p 4.0e-26
N 408,112
Large GWAS
European

level of GRB2-associated-binding protein 1 in blood serum

Allele G
OR 1.12
p 5.0e-47
N 196
Small GWAS
European

level of GMP reductase 2 in blood

Allele G
OR 0.08
p 1.0e-40
N 47,745
Large GWAS
European

erythrocyte count

Allele C
OR 0.02
p 4.0e-28
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.02
p 6.0e-17
N 503,987
Large GWAS
multi-ancestry

red blood cell density

Allele G
OR
p 6.0e-23
N 727,624
Large GWAS
multi-ancestry

erythrocyte attribute

Allele G
OR 0.07
p 2.0e-20
N 38,277
Large GWAS
European

immature reticulocyte measurement

Allele G
OR 0.06
p 4.0e-18
N 38,711
Large GWAS
European

QT interval

Allele G
OR 0.55
p 3.0e-10
N 71,061
Large GWAS
European

mean corpuscular hemoglobin concentration

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.06
p 7.0e-80
N 583,865
Major Consortium StudyLarge GWAS
multi-ancestry
Allele G
OR 0.06
p 1.0e-186
N 486,823
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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