rs181253597

This is a intron variant variant in the GSG1L gene.

▶

GWAS Catalog Trait Associations (1)

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

level of apolipoprotein B receptor in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.22
p 1.0e-14
N 47,745
Large GWAS
European

About GSG1L

Predicted to be involved in regulation of postsynaptic neurotransmitter receptor internalization. Predicted to act upstream of or within several processes, including regulation of AMPA receptor activity; regulation of short-term neuronal synaptic plasticity; and transmission of nerve impulse. Predicted to be located in asymmetric synapse and membrane. Predicted to be active in Schaffer collateral - CA1 synapse; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2025]

View all GSG1L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…