rs2433611

This is a intron variant variant in the GATM gene.

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GWAS Catalog Trait Associations (3)

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

serum creatinine amount

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele A
OR 0.05
p 2.0e-141
N 450,015
Large GWAS
multi-ancestry

serum homoarginine amount

Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele A
OR 0.34
p 1.0e-90
N 9,064
Large GWAS
multi-ancestry

urinary albumin to creatinine ratio

Teumer A et al. “Genome-wide association meta-analyses and fine-mapping elucidate pathways influencing albuminuria.” Nature Communications 10(1):4130 (2019)
Allele A
OR 0.02
p 9.0e-15
N 547,361
Large GWAS
European

About GATM

This gene encodes a mitochondrial enzyme that belongs to the amidinotransferase family. This enzyme is involved in creatine biosynthesis, whereby it catalyzes the transfer of a guanido group from L-arginine to glycine, resulting in guanidinoacetic acid, the immediate precursor of creatine. Mutations in this gene cause arginine:glycine amidinotransferase deficiency, an inborn error of creatine synthesis characterized by cognitive disability, language impairment, and behavioral disorders. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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