rs73237216

This is a intron variant variant in the MDGA2 gene.

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GWAS Catalog Trait Associations (1)

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

immunoglobulin G4-related sclerosing disease

Yan S et al. “Genome-wide association studies reveal new insights into the genetic basis of IgG4-related disease in the Chinese Han population.” Annals of the Rheumatic Diseases (2025)

Allele A

OR 5.41

p 4.0e-38

N 11,269

Large GWAS

East Asian

About MDGA2

Predicted to be involved in regulation of synapse organization and spinal cord motor neuron differentiation. Predicted to act upstream of or within several processes, including motor behavior; negative regulation of neuron apoptotic process; and neuron migration. Predicted to be located in extracellular region and plasma membrane. Predicted to be active in GABA-ergic synapse; glutamatergic synapse; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Jul 2025]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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