rs181291048

This is a regulatory region variant variant in the SHISA9 gene.

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GWAS Catalog Trait Associations (1)

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

diabetic ketoacidosis

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 G

OR 4.27

p 4.0e-14

N 572,532

Major Consortium StudyLarge GWAS

multi-ancestry

About SHISA9

Predicted to enable PDZ domain binding activity. Predicted to be involved in regulation of postsynaptic neurotransmitter receptor activity and regulation of short-term neuronal synaptic plasticity. Predicted to act upstream of or within regulation of AMPA receptor activity. Predicted to be located in synapse. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in dendritic spine membrane; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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