rs37371

This is a intron variant variant in the AGXT2 gene.

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GWAS Catalog Trait Associations (6)

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

3-aminoisobutyrate measurement

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele G
OR 0.94
p 5.0e-303
N 6,347
Large GWAS
multi-ancestry

X-24518 measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele G
OR 0.72
p 1.0e-149
N 4,817
Large GWAS
European

metabolite measurement

Schlosser P et al. “Genetic studies of paired metabolomes reveal enzymatic and transport processes at the interface of plasma and urine.” Nature Genetics 55(6):995-1008 (2023)
Allele G
OR 0.48
p 8.0e-42
N 4,776
Large GWAS
European

serum metabolite level

Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele A
OR 0.30
p 2.0e-26
N 3,926
Large GWAS
Hispanic or Latin American

serum homoarginine amount

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.17
p 2.0e-24
N 14,296
Large GWAS
European

metabolite measurement, Cognitive impairment

Granot-Hershkovitz E et al. “Genetic loci of beta-aminoisobutyric acid are associated with aging-related mild cognitive impairment.” Translational Psychiatry 13(1):140 (2023)
Allele G
OR 0.23
p 2.0e-15
N 3,890
Large GWAS
multi-ancestry

About AGXT2

The protein encoded by this gene is a class III pyridoxal-phosphate-dependent mitochondrial aminotransferase. It catalyzes the conversion of glyoxylate to glycine using L-alanine as the amino donor. It is an important regulator of methylarginines and is involved in the control of blood pressure in kidney. Polymorphisms in this gene affect methylarginine and beta-aminoisobutyrate metabolism, and are associated with carotid atherosclerosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

View all AGXT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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