rs721399

This is a downstream gene variant variant.

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GWAS Catalog Trait Associations (5)

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

4-acetamidobutanoate measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR —
β 0.029
p 4.0e-58
N 6,930
Large GWAS
European
Rhee EP et al. “Trans-ethnic genome-wide association study of blood metabolites in the Chronic Renal Insufficiency Cohort (CRIC) study.” Kidney International 101(4):814-823 (2022)
Allele T
OR 0.14
p 2.0e-10
N 687
Small GWAS
African American or Afro-Caribbean

apolipoprotein A 1 measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 1.0e-10
N 450,015
Large GWAS
multi-ancestry

concentration of medium HDL particles measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)
Allele T
OR 0.01
p 1.0e-10
N 450,015
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Impact of interactions of cigarette smoking with NAT2 polymorphisms on rheumatoid arthritis risk in African Americans
AssociationN=995Mikuls TR et al.(2012)· Arthritis &amp; Rheumatism

This case-control study examined gene-environment interactions between smoking and drug-metabolizing enzyme (DME) polymorphisms in rheumatoid arthritis (RA) risk among 727 African American RA cases and 268 controls. While no individual DME genotypes were significantly associated with RA, significant additive interactions were found between heavy smoking (≥10 pack-years) and NAT2 SNPs rs9987109 (P_add=0.000003) and rs1208 (P_add=0.00001), with attributable proportions ranging from 0.61-0.67. The NAT2 rs1208 haplotype was associated with a 4.15-fold increased RA risk in heavy smokers (p=0.005).

Traits studied:RA (anti-citrullinated protein antibody positive)Rheumatoid Arthritis
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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