rs1042391

This is a variant in the GMPR gene that changes a phenylalanine to an isoleucine.

▶

GWAS Catalog Trait Associations (6)

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

erythrocyte volume

Thompson A et al. “Assessing the impact of alcohol consumption on the genetic contribution to mean corpuscular volume.” Human Molecular Genetics 30(21):2040-2051 (2021)
Allele T
OR 0.19
p 1.0e-65
N 362,595
Large GWAS
European

hemoglobin measurement

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)
Allele A
OR 0.02
p 3.0e-43
N 928,679
Large GWAS
multi-ancestry
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele A
OR 0.02
p 2.0e-28
N 563,946
Large GWAS
European
Timoteo VJ et al. “Common and ethnic-specific genetic determinants of hemoglobin concentration between Taiwanese Han Chinese and European Whites: findings from comparative two-stage genome-wide association studies.” The Journal of Nutritional Biochemistry 111:109126 (2023)
Allele A
OR —
β 0.023
p 3.0e-9
N 46,904
Large GWAS
European
Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.06
p 9.0e-18
N 38,200
Large GWAS
European

JT interval

Young WJ et al. “Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.” Nature Communications 13(1):5144 (2022)
Allele A
OR 0.03
p 1.0e-25
N 252,730
Large GWAS
European, African unspecified, Hispanic or Latin American, South East Asian, South Asian

erythrocyte attribute

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)
Allele A
OR 0.06
p 1.0e-11
N 30,485
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 T
OR 0.05
p 4.0e-56
N 583,935
Major Consortium StudyLarge GWAS
multi-ancestry
Chen MH et al. “Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations.” Cell 182(5):1198-1213.e14 (2020)
Allele T
OR 0.04
p 2.0e-70
N 491,553
Large GWAS
European
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.04
p 3.0e-56
N 408,112
Large GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.04
p 2.0e-13
N 135,482
Large GWAS
East Asian
▶

ClinVar annotation

Benign★☆☆☆
2 submitters1 publication

GMPR POLYMORPHISM

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Identification of common variant alleles of the human guanosine monophosphate reductase gene
FunctionalTatsuro Kondoh et al.(1991)· Human Genetics

This 1991 study identified four variant alleles in the human guanosine monophosphate reductase gene (GMPR) located on chromosome 6. The T-to-A substitution at position 766 (causing Phe256Ile amino acid change) was found in approximately 30% of chromosomes examined, while the silent C-to-T change at position 630 occurred in about 10% of samples. The wild-type allele has the structure T(42)-C(630)-G(700)-T(766).

DOIMetascience Observatory

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…