rs144071365

This is a intron variant variant in the SLC22A9 gene.

GWAS Catalog Trait Associations (1)

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

Abnormal erythrocyte morphology

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 2.34
p 4.0e-11
N 568,811
Major Consortium StudyLarge GWAS
multi-ancestry

About SLC22A9

Enables short-chain fatty acid transmembrane transporter activity and sodium-independent organic anion transmembrane transporter activity. Involved in hormone transport; short-chain fatty acid transmembrane transport; and sodium-independent organic anion transport. Located in basolateral plasma membrane. Implicated in Lynch syndrome and mismatch repair cancer syndrome. [provided by Alliance of Genome Resources, Jul 2025]

View all SLC22A9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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