rs4936272

This is a regulatory region variant variant in the DRD2 gene.

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GWAS Catalog Trait Associations (2)

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

depressive disorder

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 T
OR 0.03
p 1.0e-12
N 599,361
Major Consortium StudyLarge GWAS
multi-ancestry

major depressive disorder

Giannakopoulou O et al. “The Genetic Architecture of Depression in Individuals of East Asian Ancestry: A Genome-Wide Association Study.” Jama Psychiatry 78(11):1258-1269 (2021)
Allele T
OR 0.01
p 8.0e-11
N 694,747
Large GWAS
multi-ancestry

About DRD2

This gene encodes the D2 subtype of the dopamine receptor. This G-protein coupled receptor inhibits adenylyl cyclase activity. A missense mutation in this gene causes myoclonus dystonia; other mutations have been associated with schizophrenia. Alternative splicing of this gene results in two transcript variants encoding different isoforms. A third variant has been described, but it has not been determined whether this form is normal or due to aberrant splicing. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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