rs117343774

This is a intron variant variant in the LAT2 gene.

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GWAS Catalog Trait Associations (1)

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

Moyamoya disease

Jeon JP et al. “Genome-wide association study identifies novel susceptibilities to adult moyamoya disease.” Journal of Human Genetics 68(10):713-720 (2023)

Allele G

OR 12.14

p 2.0e-10

N 512

Small GWAS

East Asian

About LAT2

This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]

View all LAT2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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