rs117706710

This variant is located in the AMPD3 gene.

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GWAS Catalog Trait Associations (6)

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

HbA1c measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.11
p 6.0e-34
N 394,642
Large GWAS
European
Chen J et al. “The trans-ancestral genomic architecture of glycemic traits.” Nature Genetics 53(6):840-860 (2021)
Allele T
OR 0.05
p 5.0e-8
N 146,806
Large GWAS
European
Willems SM et al. “Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.” Wellcome Open Research 8:483 (2023)
Allele T
OR 0.04
p 2.0e-10
N 144,060
Large GWAS
multi-ancestry

reticulocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.11
p 2.0e-19
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.08
p 5.0e-16
N 394,642
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 T
OR 0.09
p 2.0e-15
N 408,112
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.07
p 8.0e-14
N 394,642
Large GWAS
European

hemoglobin measurement

Oskarsson GR et al. “Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.” Communications Biology 3(1):189 (2020)
Allele T
OR —
β 0.081
p 8.0e-15
N 684,122
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 0.08
p 1.0e-12
N 408,112
Large GWAS
European

high density lipoprotein cholesterol measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.06
p 5.0e-12
N 394,642
Large GWAS
European

hematocrit

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.07
p 1.0e-10
N 408,112
Large GWAS
European
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ClinVar annotation

Conflicting Classifications
5 submitters1 publication

not specified; not provided; Erythrocyte AMP deaminase deficiency; AMPD3-related disorder

View on ClinVar →

About AMPD3

This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythrocyte (E) isoforms, whereas other family members encode isoforms that predominate in muscle (M) and liver (L) cells. Mutations in this gene lead to the clinically asymptomatic, autosomal recessive condition erythrocyte AMP deaminase deficiency. Alternatively spliced transcript variants encoding different isoforms of this gene have been described. [provided by RefSeq, Jul 2008]

View all AMPD3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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