rs272889

This variant is located in the SLC22A4 gene.

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GWAS Catalog Trait Associations (3)

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

metabolite measurement

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 0.22
p 1.0e-94
N 14,296
Large GWAS
European
Suhre K et al. “Human metabolic individuality in biomedical and pharmaceutical research.” Nature 477(7362):54-60 (2011)
Allele A
OR —
β 0.084
p 7.0e-16
N 2,820
Large GWAS
European

valine-to-isovalerylcarnitine ratio

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele A
OR —
β 0.039
p 3.0e-51
N 5,580
Large GWAS
European

uric acid measurement

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.01
p 2.0e-12
N 473,241
Large GWAS
multi-ancestry

About SLC22A4

Polyspecific organic cation transporters in the liver, kidney, intestine, and other organs are critical for elimination of many endogenous small organic cations as well as a wide array of drugs and environmental toxins. The encoded protein is an organic cation transporter and plasma integral membrane protein containing eleven putative transmembrane domains as well as a nucleotide-binding site motif. Transport by this protein is at least partially ATP-dependent. [provided by RefSeq, Jul 2008]

View all SLC22A4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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