rs17602729

This is a stop gained variant in the AMPD1 gene.

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GWAS Catalog Trait Associations (3)

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

glomerular filtration rate

Stanzick KJ et al. “Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals.” Nature Communications 12(1):4350 (2021)
Allele G
OR 0.00
p 2.0e-16
N 1,201,930
Large GWAS
multi-ancestry
Liu H et al. “Epigenomic and transcriptomic analyses define core cell types, genes and targetable mechanisms for kidney disease.” Nature Genetics 54(7):950-962 (2022)
Allele G
OR 7.36
p 2.0e-13
N 1,508,659
Large GWAS
multi-ancestry

serum creatinine amount

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-15
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 A
OR 0.02
p 2.0e-12
N 494,370
Large GWAS
multi-ancestry

level of alpha-actinin-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 A
OR 0.06
p 1.0e-13
N 47,745
Large GWAS
European
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ClinVar annotation

Pathogenic★☆☆☆
15 submitters10 publications

AMPD1-related disorder; Muscle AMP deaminase deficiency (MMDD); not specified

View on ClinVar →
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Research that mentions this SNP (2)

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Association of the matrix metalloproteinase 3 (MMP3) single nucleotide polymorphisms with tendinopathies: case-control study in high-level athletes
Case reportNina Briški et al.(2021)· International Orthopaedics

This is a Turkish-language personalized nutrigenetics and epigenetics coaching report for individual Mehmet Efe Yildirim (Report No. 1332, dated 2023-11-21). The report analyzes the individual's genetic polymorphisms related to nutritional metabolism, food sensitivities, detoxification pathways, and other health-related traits, providing personalized dietary and lifestyle recommendations based on cited scientific literature. This is a direct-to-consumer genetic test report, not a peer-reviewed research study.

Traits studied:Alcohol metabolismAnxiety and panic disorderCaffeine sensitivityCholine metabolismCircadian rhythmExercise performanceFolate metabolismFood allergiesGluten sensitivityHistamine sensitivityHomocysteinemiaInflammatory markersLactose intoleranceLiver healthMicrobiota metabolismNFE2L2 pathwayObesity and weight managementOmega-3 metabolismPhase I detoxificationPhase II glutathione transferasePlant sterols metabolismRiboflavin metabolismSelenium metabolismSleep qualityUGT metabolismVitamin A metabolismVitamin B12 metabolismVitamin B6 metabolismVitamin C metabolismVitamin D metabolismVitamin K metabolismZinc metabolism
PubMedDOIMetascience Observatory
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The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypes
AssociationN=2,555Ildus I. Ahmetov et al.(2009)· Human Genetics

This case-control study of 1,423 Russian athletes and 1,132 controls examined 15 metabolic gene polymorphisms associated with elite endurance athlete status. Ten 'endurance alleles' were identified: rs4253778 (PPARA), rs2016520 (PPARD), rs8192678 (PPARGC1A), rs7732671 (PPARGC1B), rs1937 (TFAM), rs660339 (UCP2), rs1800849 (UCP3), rs2010963 (VEGFA), NFATC4 rs2229309, and PPP3R1 promoter 5I. The proportion of subjects with ≥9 endurance alleles was significantly higher in elite endurance athletes versus controls (85.7% vs 37.8%, P=7.6×10⁻⁶). The number of endurance alleles positively correlated with slow-twitch muscle fiber proportion (r=0.50, P=4.0×10⁻⁴) and maximal oxygen consumption (r=0.46, P=7.0×10⁻⁴).

Traits studied:Elite endurance athlete statusMaximal oxygen consumption (VO2max)Slow-twitch muscle fiber proportion
PubMedDOIMetascience Observatory

About AMPD1

Adenosine monophosphate deaminase 1 catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine nucleotide cycle. Two other genes have been identified, AMPD2 and AMPD3, for the liver- and erythocyte-specific isoforms, respectively. Deficiency of the muscle-specific enzyme is apparently a common cause of exercise-induced myopathy and probably the most common cause of metabolic myopathy in the human. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

View all AMPD1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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