rs113763611

This is a intron variant variant in the GALNT17 gene.

GWAS Catalog Trait Associations (1)

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

Lung Abscess, bronchopneumonia

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 4.34
p 2.0e-12
N 568,804
Major Consortium StudyLarge GWAS
multi-ancestry

About GALNT17

This gene encodes an N-acetylgalactosaminyltransferase. This gene is located centromeric to the common deleted region in Williams-Beuren syndrome (WBS), a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. This protein may play a role in membrane trafficking. [provided by RefSeq, Jan 2013]

View all GALNT17 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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