rs1681859

This is a intron variant variant in the SLC2A1 gene.

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GWAS Catalog Trait Associations (1)

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

erythrocyte attribute

Akbari P et al. “A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.” Nature Communications 14(1):5023 (2023)

Allele A

OR 0.11

p 8.0e-30

N 30,485

Large GWAS

European

About SLC2A1

This gene encodes a major glucose transporter in the mammalian blood-brain barrier. The encoded protein is found primarily in the cell membrane and on the cell surface, where it can also function as a receptor for human T-cell leukemia virus (HTLV) I and II. Mutations in this gene have been found in a family with paroxysmal exertion-induced dyskinesia. [provided by RefSeq, Apr 2013]

View all SLC2A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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