rs191177039

This is a intron variant variant in the SLC6A1 gene.

GWAS Catalog Trait Associations (1)

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

Alzheimer disease

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 A
OR
β 3.559
p 9.0e-14
N 629,917
Major Consortium StudyLarge GWAS
multi-ancestry

About SLC6A1

The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]

View all SLC6A1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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