rs2072757

This variant is located in the SLC19A2 gene.

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GWAS Catalog Trait Associations (1)

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

pyruvate measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele A

OR 0.02

p 7.0e-13

N 450,015

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

8 submitters2 publications

not specified; Thiamine-responsive megaloblastic anemia; Megaloblastic anemia, thiamine-responsive, with diabetes mellitus and sensorineural deafness; not provided

View on ClinVar →

About SLC19A2

This gene encodes the thiamin transporter protein. Mutations in this gene cause thiamin-responsive megaloblastic anemia syndrome (TRMA), which is an autosomal recessive disorder characterized by diabetes mellitus, megaloblastic anemia and sensorineural deafness. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

View all SLC19A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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