rs56379106

This is a variant in the NAT1 gene that changes a arginine to an tryptophan.

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GWAS Catalog Trait Associations (1)

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

N-acetyltaurine 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 T

OR 0.51

p 1.0e-16

N 14,296

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

not specified

View on ClinVar →

About NAT1

This gene is one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

View all NAT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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