rs111460093
This variant is located in the SLC28A1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
cytidine measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele C
OR 0.33
p 1.0e-20
N 8,809
Large GWAS
European
serum metabolite level
Feofanova EV et al. “A Genome-wide Association Study Discovers 46 Loci of the Human Metabolome in the Hispanic Community Health Study/Study of Latinos.” American Journal of Human Genetics 107(5):849-863 (2020)
Allele G
OR 0.38
p 1.0e-17
N 3,926
Large GWAS
multi-ancestry
pseudouridine measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele C
OR 0.22
p 5.0e-13
N 8,809
Large GWAS
European
▶ClinVar annotation
About SLC28A1
Enables azole transmembrane transporter activity; pyrimidine- and adenosine-specific:sodium symporter activity; and uridine transmembrane transporter activity. Involved in azole transmembrane transport and nucleoside transport. Located in apical plasma membrane; cytosol; and nuclear speck. [provided by Alliance of Genome Resources, Jul 2025]
View all SLC28A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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