rs11033048

This is a regulatory region variant variant in the SLC1A2 gene.

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GWAS Catalog Trait Associations (2)

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

type 1 diabetes mellitus

Robertson CC et al. “Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes.” Nature Genetics 53(7):962-971 (2021)
Allele T
OR 1.09
p 2.0e-10
N 59,527
Large GWAS
multi-ancestry

About SLC1A2

This gene encodes a member of a family of solute transporter proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors. Improper regulation of this gene is thought to be associated with several neurological disorders. Alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2017]

View all SLC1A2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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