rs4764039

This is a intron variant variant in the GRIN2B gene.

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GWAS Catalog Trait Associations (1)

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

primary dental caries

Borgio JF et al. “Exome array identifies functional exonic biomarkers for pediatric dental caries.” Computers in Biology and Medicine 141:105019 (2022)
Allele C
OR 0.06
p 2.0e-8
N 111
Small GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)

About GRIN2B

This gene encodes a member of the N-methyl-D-aspartate (NMDA) receptor family within the ionotropic glutamate receptor superfamily. The encoded protein is a subunit of the NMDA receptor ion channel which acts as an agonist binding site for glutamate. The NMDA receptors mediate a slow calcium-permeable component of excitatory synaptic transmission in the central nervous system. The NMDA receptors are heterotetramers of seven genetically encoded, differentially expressed subunits including NR1 (GRIN1), NR2 (GRIN2A, GRIN2B, GRIN2C, or GRIN2D) and NR3 (GRIN3A or GRIN3B). The early expression of this gene in development suggests a role in brain development, circuit formation, synaptic plasticity, and cellular migration and differentiation. Naturally occurring mutations within this gene are associated with neurodevelopmental disorders including autism spectrum disorder, attention deficit hyperactivity disorder, epilepsy, and schizophrenia. [provided by RefSeq, Aug 2017]

View all GRIN2B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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